rs2071214

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

BIRC5 : Missense Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0064 (7775/121360,ExAC)
G==0049 (1495/29988,GnomAD)
G==0031 (927/29118,TOPMED)
A=0034 (444/13006,GO-ESP)
G==0071 (355/5008,1000G)
G==0057 (221/3854,ALSPAC)
G==0061 (226/3708,TWINSUK)

Position: chr17:78223510 (GRCh38.p7) (17q25.3)

Phenotype: AD

Dataset:

GWASCatalog | GWASdb2

Publications: 6 publication(s)

Genomic View: See rs on genome

Enhancer: 530 Enhancers around

Promoter: 50 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 17	NC_000017.11:g.78223510G>A
GRCh37.p13 chr 17	NC_000017.10:g.76219591G>A
BIRC5 RefSeqGene	NG_029069.1:g.14315G>A

Gene: BIRC5, baculoviral IAP repeat containing 5(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BIRC5 transcript variant 1	NM_001168.2:c.385G>A	E [GAG]> K [AAG]	Coding Sequence Variant
baculoviral IAP repeat-containing protein 5 isoform 1	NP_001159.2:p.Glu...NP_001159.2:p.Glu129Lys	E [Glu]> K [Lys]	Missense Variant
BIRC5 transcript variant 2	NM_001012270.1:c....NM_001012270.1:c.267G>A	R [CGG]> R [CGA]	Coding Sequence Variant
baculoviral IAP repeat-containing protein 5 isoform 2	NP_001012270.1:p....NP_001012270.1:p.Arg89=	R [Arg]> R [Arg]	Synonymous Variant
BIRC5 transcript variant 3	NM_001012271.1:c....NM_001012271.1:c.454G>A	E [GAG]> K [AAG]	Coding Sequence Variant
baculoviral IAP repeat-containing protein 5 isoform 3	NP_001012271.1:p....NP_001012271.1:p.Glu152Lys	E [Glu]> K [Lys]	Missense Variant
BIRC5 transcript variant X1	XR_934452.2:n.656G>A	G>A	Non Coding Transcript Variant
BIRC5 transcript variant X2	XR_243654.4:n.587G>A	G>A	Non Coding Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.002	A=0.998
1000Genomes	American	Sub	694	G=0.060	A=0.940
1000Genomes	East Asian	Sub	1008	G=0.227	A=0.773
1000Genomes	Europe	Sub	1006	G=0.047	A=0.953
1000Genomes	Global	Study-wide	5008	G=0.071	A=0.929
1000Genomes	South Asian	Sub	978	G=0.040	A=0.960
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.057	A=0.943
The Exome Aggregation Consortium	American	Sub	21982	G=0.048	A=0.951
The Exome Aggregation Consortium	Asian	Sub	25140	G=0.105	A=0.894
The Exome Aggregation Consortium	Europe	Sub	73332	G=0.054	A=0.945
The Exome Aggregation Consortium	Global	Study-wide	121360	G=0.064	A=0.935
The Exome Aggregation Consortium	Other	Sub	906	G=0.070	A=0.930
The Genome Aggregation Database	African	Sub	8732	G=0.010	A=0.990
The Genome Aggregation Database	American	Sub	838	G=0.070	A=0.930
The Genome Aggregation Database	East Asian	Sub	1616	G=0.212	A=0.788
The Genome Aggregation Database	Europe	Sub	18500	G=0.053	A=0.946
The Genome Aggregation Database	Global	Study-wide	29988	G=0.049	A=0.950
The Genome Aggregation Database	Other	Sub	302	G=0.050	A=0.950
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.031	A=0.968
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.061	A=0.939

PMID	Title	Author	Journal
27446775	Association Between a Polymorphism (rs2071214) in Baculoviral IAP Repeat Containing 5 Gene (BIRC5) and Ischemic Stroke in Korean Population.	Chon J	Ann Rehabil Med
25586992	Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer.	Kabisch M	Carcinogenesis
27423588	Association between missense SNP rs2071214 of BIRC5 gene and intracerebral hemorrhage in Korean population.	Park HJ	J Neurol Sci
27417569	Systematic review: genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases.	Bek S	Aliment Pharmacol Ther
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res
23942779	A genome-wide association study of behavioral disinhibition.	McGue M	Behav Genet

P-Value

SNP ID	p-value	Traits	Study
rs2071214	8.00E-06	alcohol dependence	23942779
rs2071214	0.000177	alcohol dependence	21314694

eQTL of rs2071214 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs2071214 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr17	76169941	76170056	E067	-49535
chr17	76170107	76172170	E067	-47421
chr17	76172221	76173217	E067	-46374
chr17	76176169	76176615	E067	-42976
chr17	76186815	76186870	E067	-32721
chr17	76186982	76187091	E067	-32500
chr17	76187155	76187209	E067	-32382
chr17	76187343	76187393	E067	-32198
chr17	76187421	76187487	E067	-32104
chr17	76188662	76189084	E067	-30507
chr17	76192854	76192898	E067	-26693
chr17	76192985	76193039	E067	-26552
chr17	76193201	76193293	E067	-26298
chr17	76193306	76193563	E067	-26028
chr17	76193622	76193750	E067	-25841
chr17	76193872	76193967	E067	-25624
chr17	76215589	76216209	E067	-3382
chr17	76219291	76219628	E067	0
chr17	76219684	76219737	E067	93
chr17	76220020	76220080	E067	429
chr17	76220221	76220302	E067	630
chr17	76220344	76220761	E067	753
chr17	76220802	76221014	E067	1211
chr17	76221191	76221264	E067	1600
chr17	76221456	76221585	E067	1865
chr17	76222257	76222609	E067	2666
chr17	76222673	76223428	E067	3082
chr17	76223453	76223582	E067	3862
chr17	76223664	76223904	E067	4073
chr17	76224167	76224221	E067	4576
chr17	76226484	76226682	E067	6893
chr17	76229674	76229730	E067	10083
chr17	76229893	76230010	E067	10302
chr17	76230077	76230127	E067	10486
chr17	76230129	76230179	E067	10538
chr17	76230270	76230354	E067	10679
chr17	76230390	76230440	E067	10799
chr17	76230466	76230526	E067	10875
chr17	76230725	76230801	E067	11134
chr17	76230917	76231006	E067	11326
chr17	76232834	76233026	E067	13243
chr17	76233035	76233116	E067	13444
chr17	76233236	76233286	E067	13645
chr17	76233348	76233836	E067	13757
chr17	76233868	76233926	E067	14277
chr17	76233981	76234053	E067	14390
chr17	76234079	76234178	E067	14488
chr17	76234217	76234375	E067	14626
chr17	76234403	76234496	E067	14812
chr17	76234549	76234613	E067	14958
chr17	76234666	76234823	E067	15075
chr17	76235067	76235319	E067	15476
chr17	76235452	76235516	E067	15861
chr17	76235577	76235739	E067	15986
chr17	76236186	76236271	E067	16595
chr17	76236284	76236338	E067	16693
chr17	76237364	76237517	E067	17773
chr17	76237536	76237995	E067	17945
chr17	76238000	76238081	E067	18409
chr17	76238097	76238400	E067	18506
chr17	76238420	76239104	E067	18829
chr17	76239460	76239500	E067	19869
chr17	76245791	76246093	E067	26200
chr17	76246124	76249564	E067	26533
chr17	76249569	76249658	E067	29978
chr17	76170107	76172170	E068	-47421
chr17	76172221	76173217	E068	-46374
chr17	76192854	76192898	E068	-26693
chr17	76192985	76193039	E068	-26552
chr17	76193201	76193293	E068	-26298
chr17	76193306	76193563	E068	-26028
chr17	76193622	76193750	E068	-25841
chr17	76219291	76219628	E068	0
chr17	76220020	76220080	E068	429
chr17	76220221	76220302	E068	630
chr17	76220344	76220761	E068	753
chr17	76220802	76221014	E068	1211
chr17	76221191	76221264	E068	1600
chr17	76221456	76221585	E068	1865
chr17	76222673	76223428	E068	3082
chr17	76223453	76223582	E068	3862
chr17	76223664	76223904	E068	4073
chr17	76224167	76224221	E068	4576
chr17	76224617	76225007	E068	5026
chr17	76229435	76229485	E068	9844
chr17	76229674	76229730	E068	10083
chr17	76229893	76230010	E068	10302
chr17	76230077	76230127	E068	10486
chr17	76230129	76230179	E068	10538
chr17	76230270	76230354	E068	10679
chr17	76230390	76230440	E068	10799
chr17	76230466	76230526	E068	10875
chr17	76230725	76230801	E068	11134
chr17	76230917	76231006	E068	11326
chr17	76232163	76232219	E068	12572
chr17	76232317	76232406	E068	12726
chr17	76232485	76232650	E068	12894
chr17	76232671	76232807	E068	13080
chr17	76232834	76233026	E068	13243
chr17	76233035	76233116	E068	13444
chr17	76233236	76233286	E068	13645
chr17	76233348	76233836	E068	13757
chr17	76233868	76233926	E068	14277
chr17	76233981	76234053	E068	14390
chr17	76234079	76234178	E068	14488
chr17	76234217	76234375	E068	14626
chr17	76234403	76234496	E068	14812
chr17	76234549	76234613	E068	14958
chr17	76234666	76234823	E068	15075
chr17	76235067	76235319	E068	15476
chr17	76235452	76235516	E068	15861
chr17	76235577	76235739	E068	15986
chr17	76235956	76235996	E068	16365
chr17	76236140	76236184	E068	16549
chr17	76236186	76236271	E068	16595
chr17	76236284	76236338	E068	16693
chr17	76236471	76236603	E068	16880
chr17	76236730	76236800	E068	17139
chr17	76237033	76237257	E068	17442
chr17	76237364	76237517	E068	17773
chr17	76237536	76237995	E068	17945
chr17	76238000	76238081	E068	18409
chr17	76238097	76238400	E068	18506
chr17	76238420	76239104	E068	18829
chr17	76245791	76246093	E068	26200
chr17	76169941	76170056	E069	-49535
chr17	76170107	76172170	E069	-47421
chr17	76172221	76173217	E069	-46374
chr17	76176709	76176821	E069	-42770
chr17	76186815	76186870	E069	-32721
chr17	76186982	76187091	E069	-32500
chr17	76187155	76187209	E069	-32382
chr17	76187343	76187393	E069	-32198
chr17	76187421	76187487	E069	-32104
chr17	76192337	76192391	E069	-27200
chr17	76192854	76192898	E069	-26693
chr17	76192985	76193039	E069	-26552
chr17	76193201	76193293	E069	-26298
chr17	76193306	76193563	E069	-26028
chr17	76193622	76193750	E069	-25841
chr17	76204062	76204184	E069	-15407
chr17	76204757	76204813	E069	-14778
chr17	76220020	76220080	E069	429
chr17	76220221	76220302	E069	630
chr17	76220344	76220761	E069	753
chr17	76220802	76221014	E069	1211
chr17	76221191	76221264	E069	1600
chr17	76221456	76221585	E069	1865
chr17	76222257	76222609	E069	2666
chr17	76222673	76223428	E069	3082
chr17	76223453	76223582	E069	3862
chr17	76223664	76223904	E069	4073
chr17	76224167	76224221	E069	4576
chr17	76224617	76225007	E069	5026
chr17	76229435	76229485	E069	9844
chr17	76229674	76229730	E069	10083
chr17	76229893	76230010	E069	10302
chr17	76230077	76230127	E069	10486
chr17	76230129	76230179	E069	10538
chr17	76230270	76230354	E069	10679
chr17	76230390	76230440	E069	10799
chr17	76230466	76230526	E069	10875
chr17	76230725	76230801	E069	11134
chr17	76230917	76231006	E069	11326
chr17	76231022	76231066	E069	11431
chr17	76231192	76231454	E069	11601
chr17	76231933	76232001	E069	12342
chr17	76232163	76232219	E069	12572
chr17	76232317	76232406	E069	12726
chr17	76232485	76232650	E069	12894
chr17	76232671	76232807	E069	13080
chr17	76232834	76233026	E069	13243
chr17	76233035	76233116	E069	13444
chr17	76233236	76233286	E069	13645
chr17	76233348	76233836	E069	13757
chr17	76233868	76233926	E069	14277
chr17	76233981	76234053	E069	14390
chr17	76234079	76234178	E069	14488
chr17	76234217	76234375	E069	14626
chr17	76234403	76234496	E069	14812
chr17	76234549	76234613	E069	14958
chr17	76234666	76234823	E069	15075
chr17	76235067	76235319	E069	15476
chr17	76235452	76235516	E069	15861
chr17	76235577	76235739	E069	15986
chr17	76235956	76235996	E069	16365
chr17	76236140	76236184	E069	16549
chr17	76236186	76236271	E069	16595
chr17	76236284	76236338	E069	16693
chr17	76236471	76236603	E069	16880
chr17	76236730	76236800	E069	17139
chr17	76237033	76237257	E069	17442
chr17	76237364	76237517	E069	17773
chr17	76237536	76237995	E069	17945
chr17	76238000	76238081	E069	18409
chr17	76238097	76238400	E069	18506
chr17	76238420	76239104	E069	18829
chr17	76244564	76244715	E069	24973
chr17	76244716	76244827	E069	25125
chr17	76245369	76245460	E069	25778
chr17	76245555	76245600	E069	25964
chr17	76245651	76245703	E069	26060
chr17	76245791	76246093	E069	26200
chr17	76246124	76249564	E069	26533
chr17	76249569	76249658	E069	29978
chr17	76180407	76181251	E070	-38340
chr17	76233236	76233286	E070	13645
chr17	76233348	76233836	E070	13757
chr17	76233868	76233926	E070	14277
chr17	76233981	76234053	E070	14390
chr17	76234079	76234178	E070	14488
chr17	76234217	76234375	E070	14626
chr17	76234403	76234496	E070	14812
chr17	76234549	76234613	E070	14958
chr17	76264246	76264433	E070	44655
chr17	76264469	76264703	E070	44878
chr17	76264798	76264858	E070	45207
chr17	76169941	76170056	E071	-49535
chr17	76170107	76172170	E071	-47421
chr17	76172221	76173217	E071	-46374
chr17	76180407	76181251	E071	-38340
chr17	76186815	76186870	E071	-32721
chr17	76190154	76190212	E071	-29379
chr17	76190577	76190696	E071	-28895
chr17	76192337	76192391	E071	-27200
chr17	76192985	76193039	E071	-26552
chr17	76193201	76193293	E071	-26298
chr17	76193306	76193563	E071	-26028
chr17	76193622	76193750	E071	-25841
chr17	76193872	76193967	E071	-25624
chr17	76215589	76216209	E071	-3382
chr17	76219291	76219628	E071	0
chr17	76219684	76219737	E071	93
chr17	76220020	76220080	E071	429
chr17	76220221	76220302	E071	630
chr17	76220344	76220761	E071	753
chr17	76220802	76221014	E071	1211
chr17	76221191	76221264	E071	1600
chr17	76221456	76221585	E071	1865
chr17	76221659	76221703	E071	2068
chr17	76222257	76222609	E071	2666
chr17	76222673	76223428	E071	3082
chr17	76223453	76223582	E071	3862
chr17	76223664	76223904	E071	4073
chr17	76224167	76224221	E071	4576
chr17	76224617	76225007	E071	5026
chr17	76229435	76229485	E071	9844
chr17	76229674	76229730	E071	10083
chr17	76229893	76230010	E071	10302
chr17	76230077	76230127	E071	10486
chr17	76230129	76230179	E071	10538
chr17	76230270	76230354	E071	10679
chr17	76230390	76230440	E071	10799
chr17	76230466	76230526	E071	10875
chr17	76230725	76230801	E071	11134
chr17	76230917	76231006	E071	11326
chr17	76231022	76231066	E071	11431
chr17	76231192	76231454	E071	11601
chr17	76231933	76232001	E071	12342
chr17	76232163	76232219	E071	12572
chr17	76232317	76232406	E071	12726
chr17	76232485	76232650	E071	12894
chr17	76232671	76232807	E071	13080
chr17	76232834	76233026	E071	13243
chr17	76233035	76233116	E071	13444
chr17	76233236	76233286	E071	13645
chr17	76233348	76233836	E071	13757
chr17	76233868	76233926	E071	14277
chr17	76233981	76234053	E071	14390
chr17	76234079	76234178	E071	14488
chr17	76234217	76234375	E071	14626
chr17	76234403	76234496	E071	14812
chr17	76234549	76234613	E071	14958
chr17	76234666	76234823	E071	15075
chr17	76235067	76235319	E071	15476
chr17	76235452	76235516	E071	15861
chr17	76235577	76235739	E071	15986
chr17	76235956	76235996	E071	16365
chr17	76236140	76236184	E071	16549
chr17	76236186	76236271	E071	16595
chr17	76236284	76236338	E071	16693
chr17	76236471	76236603	E071	16880
chr17	76236730	76236800	E071	17139
chr17	76237033	76237257	E071	17442
chr17	76237364	76237517	E071	17773
chr17	76237536	76237995	E071	17945
chr17	76238000	76238081	E071	18409
chr17	76238097	76238400	E071	18506
chr17	76238420	76239104	E071	18829
chr17	76244564	76244715	E071	24973
chr17	76244716	76244827	E071	25125
chr17	76244863	76245093	E071	25272
chr17	76245369	76245460	E071	25778
chr17	76245555	76245600	E071	25964
chr17	76245651	76245703	E071	26060
chr17	76245791	76246093	E071	26200
chr17	76246124	76249564	E071	26533
chr17	76249569	76249658	E071	29978
chr17	76253720	76255392	E071	34129
chr17	76169941	76170056	E072	-49535
chr17	76170107	76172170	E072	-47421
chr17	76172221	76173217	E072	-46374
chr17	76185185	76185281	E072	-34310
chr17	76185653	76185697	E072	-33894
chr17	76186982	76187091	E072	-32500
chr17	76187155	76187209	E072	-32382
chr17	76187343	76187393	E072	-32198
chr17	76187421	76187487	E072	-32104
chr17	76190154	76190212	E072	-29379
chr17	76190577	76190696	E072	-28895
chr17	76192337	76192391	E072	-27200
chr17	76192854	76192898	E072	-26693
chr17	76192985	76193039	E072	-26552
chr17	76193201	76193293	E072	-26298
chr17	76193306	76193563	E072	-26028
chr17	76196510	76196800	E072	-22791
chr17	76215589	76216209	E072	-3382
chr17	76219291	76219628	E072	0
chr17	76219684	76219737	E072	93
chr17	76220020	76220080	E072	429
chr17	76220221	76220302	E072	630
chr17	76220802	76221014	E072	1211
chr17	76221191	76221264	E072	1600
chr17	76221456	76221585	E072	1865
chr17	76222673	76223428	E072	3082
chr17	76223453	76223582	E072	3862
chr17	76223664	76223904	E072	4073
chr17	76224167	76224221	E072	4576
chr17	76224617	76225007	E072	5026
chr17	76229435	76229485	E072	9844
chr17	76229674	76229730	E072	10083
chr17	76229893	76230010	E072	10302
chr17	76230077	76230127	E072	10486
chr17	76230129	76230179	E072	10538
chr17	76230270	76230354	E072	10679
chr17	76230390	76230440	E072	10799
chr17	76230466	76230526	E072	10875
chr17	76230725	76230801	E072	11134
chr17	76230917	76231006	E072	11326
chr17	76231022	76231066	E072	11431
chr17	76231192	76231454	E072	11601
chr17	76231933	76232001	E072	12342
chr17	76232163	76232219	E072	12572
chr17	76232317	76232406	E072	12726
chr17	76232485	76232650	E072	12894
chr17	76232671	76232807	E072	13080
chr17	76232834	76233026	E072	13243
chr17	76233035	76233116	E072	13444
chr17	76233236	76233286	E072	13645
chr17	76233348	76233836	E072	13757
chr17	76233868	76233926	E072	14277
chr17	76234403	76234496	E072	14812
chr17	76234549	76234613	E072	14958
chr17	76234666	76234823	E072	15075
chr17	76235067	76235319	E072	15476
chr17	76235452	76235516	E072	15861
chr17	76235577	76235739	E072	15986
chr17	76235956	76235996	E072	16365
chr17	76236140	76236184	E072	16549
chr17	76236186	76236271	E072	16595
chr17	76236284	76236338	E072	16693
chr17	76236471	76236603	E072	16880
chr17	76236730	76236800	E072	17139
chr17	76237033	76237257	E072	17442
chr17	76237364	76237517	E072	17773
chr17	76237536	76237995	E072	17945
chr17	76238000	76238081	E072	18409
chr17	76238097	76238400	E072	18506
chr17	76238420	76239104	E072	18829
chr17	76246124	76249564	E072	26533
chr17	76249569	76249658	E072	29978
chr17	76169941	76170056	E073	-49535
chr17	76170107	76172170	E073	-47421
chr17	76172221	76173217	E073	-46374
chr17	76192337	76192391	E073	-27200
chr17	76192854	76192898	E073	-26693
chr17	76192985	76193039	E073	-26552
chr17	76193201	76193293	E073	-26298
chr17	76193306	76193563	E073	-26028
chr17	76218956	76219006	E073	-585
chr17	76219154	76219194	E073	-397
chr17	76219291	76219628	E073	0
chr17	76219684	76219737	E073	93
chr17	76220020	76220080	E073	429
chr17	76220802	76221014	E073	1211
chr17	76221191	76221264	E073	1600
chr17	76221456	76221585	E073	1865
chr17	76222673	76223428	E073	3082
chr17	76223453	76223582	E073	3862
chr17	76223664	76223904	E073	4073
chr17	76230270	76230354	E073	10679
chr17	76230390	76230440	E073	10799
chr17	76230466	76230526	E073	10875
chr17	76230725	76230801	E073	11134
chr17	76230917	76231006	E073	11326
chr17	76231022	76231066	E073	11431
chr17	76233236	76233286	E073	13645
chr17	76233348	76233836	E073	13757
chr17	76233868	76233926	E073	14277
chr17	76233981	76234053	E073	14390
chr17	76234079	76234178	E073	14488
chr17	76234217	76234375	E073	14626
chr17	76234403	76234496	E073	14812
chr17	76234549	76234613	E073	14958
chr17	76234666	76234823	E073	15075
chr17	76235067	76235319	E073	15476
chr17	76235452	76235516	E073	15861
chr17	76235577	76235739	E073	15986
chr17	76235956	76235996	E073	16365
chr17	76236140	76236184	E073	16549
chr17	76236186	76236271	E073	16595
chr17	76236284	76236338	E073	16693
chr17	76236471	76236603	E073	16880
chr17	76238097	76238400	E073	18506
chr17	76238420	76239104	E073	18829
chr17	76239460	76239500	E073	19869
chr17	76249569	76249658	E073	29978
chr17	76169941	76170056	E074	-49535
chr17	76170107	76172170	E074	-47421
chr17	76172221	76173217	E074	-46374
chr17	76181436	76181583	E074	-38008
chr17	76181677	76181735	E074	-37856
chr17	76185185	76185281	E074	-34310
chr17	76185653	76185697	E074	-33894
chr17	76187155	76187209	E074	-32382
chr17	76187343	76187393	E074	-32198
chr17	76187421	76187487	E074	-32104
chr17	76188662	76189084	E074	-30507
chr17	76192106	76192158	E074	-27433
chr17	76192337	76192391	E074	-27200
chr17	76192854	76192898	E074	-26693
chr17	76192985	76193039	E074	-26552
chr17	76193201	76193293	E074	-26298
chr17	76193306	76193563	E074	-26028
chr17	76193622	76193750	E074	-25841
chr17	76193872	76193967	E074	-25624
chr17	76194357	76194401	E074	-25190
chr17	76215589	76216209	E074	-3382
chr17	76219291	76219628	E074	0
chr17	76219684	76219737	E074	93
chr17	76220020	76220080	E074	429
chr17	76220221	76220302	E074	630
chr17	76220344	76220761	E074	753
chr17	76220802	76221014	E074	1211
chr17	76221191	76221264	E074	1600
chr17	76221456	76221585	E074	1865
chr17	76221659	76221703	E074	2068
chr17	76222257	76222609	E074	2666
chr17	76222673	76223428	E074	3082
chr17	76223453	76223582	E074	3862
chr17	76223664	76223904	E074	4073
chr17	76224167	76224221	E074	4576
chr17	76224617	76225007	E074	5026
chr17	76229435	76229485	E074	9844
chr17	76229674	76229730	E074	10083
chr17	76229893	76230010	E074	10302
chr17	76230077	76230127	E074	10486
chr17	76230129	76230179	E074	10538
chr17	76230270	76230354	E074	10679
chr17	76230390	76230440	E074	10799
chr17	76230466	76230526	E074	10875
chr17	76230725	76230801	E074	11134
chr17	76230917	76231006	E074	11326
chr17	76231022	76231066	E074	11431
chr17	76231192	76231454	E074	11601
chr17	76231933	76232001	E074	12342
chr17	76232163	76232219	E074	12572
chr17	76232317	76232406	E074	12726
chr17	76232485	76232650	E074	12894
chr17	76232671	76232807	E074	13080
chr17	76232834	76233026	E074	13243
chr17	76233035	76233116	E074	13444
chr17	76233236	76233286	E074	13645
chr17	76233348	76233836	E074	13757
chr17	76233868	76233926	E074	14277
chr17	76234403	76234496	E074	14812
chr17	76234549	76234613	E074	14958
chr17	76234666	76234823	E074	15075
chr17	76235452	76235516	E074	15861
chr17	76235577	76235739	E074	15986
chr17	76235956	76235996	E074	16365
chr17	76236140	76236184	E074	16549
chr17	76236186	76236271	E074	16595
chr17	76236284	76236338	E074	16693
chr17	76236471	76236603	E074	16880
chr17	76236730	76236800	E074	17139
chr17	76237033	76237257	E074	17442
chr17	76237364	76237517	E074	17773
chr17	76237536	76237995	E074	17945
chr17	76238000	76238081	E074	18409
chr17	76238097	76238400	E074	18506
chr17	76238420	76239104	E074	18829
chr17	76245369	76245460	E074	25778
chr17	76245555	76245600	E074	25964
chr17	76245651	76245703	E074	26060
chr17	76245791	76246093	E074	26200
chr17	76172221	76173217	E081	-46374
chr17	76219684	76219737	E081	93
chr17	76220020	76220080	E081	429
chr17	76220221	76220302	E081	630
chr17	76220344	76220761	E081	753
chr17	76220802	76221014	E081	1211
chr17	76221191	76221264	E081	1600
chr17	76221456	76221585	E081	1865
chr17	76221659	76221703	E081	2068
chr17	76224617	76225007	E081	5026
chr17	76230390	76230440	E081	10799
chr17	76230466	76230526	E081	10875
chr17	76230725	76230801	E081	11134
chr17	76233868	76233926	E081	14277
chr17	76233981	76234053	E081	14390
chr17	76234079	76234178	E081	14488
chr17	76234217	76234375	E081	14626
chr17	76234403	76234496	E081	14812
chr17	76234549	76234613	E081	14958
chr17	76234666	76234823	E081	15075
chr17	76249569	76249658	E081	29978
chr17	76264937	76267145	E081	45346
chr17	76170107	76172170	E082	-47421
chr17	76172221	76173217	E082	-46374
chr17	76186815	76186870	E082	-32721
chr17	76230466	76230526	E082	10875
chr17	76232671	76232807	E082	13080
chr17	76232834	76233026	E082	13243
chr17	76233035	76233116	E082	13444
chr17	76233236	76233286	E082	13645
chr17	76233348	76233836	E082	13757
chr17	76233868	76233926	E082	14277
chr17	76233981	76234053	E082	14390
chr17	76264937	76267145	E082	45346

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr17	76182312	76183834	E067	-35757
chr17	76183980	76184532	E067	-35059
chr17	76210001	76210934	E067	-8657
chr17	76227680	76228075	E067	8089
chr17	76228123	76228772	E067	8532
chr17	76249949	76250971	E067	30358
chr17	76182312	76183834	E068	-35757
chr17	76183980	76184532	E068	-35059
chr17	76210001	76210934	E068	-8657
chr17	76227680	76228075	E068	8089
chr17	76228123	76228772	E068	8532
chr17	76249949	76250971	E068	30358
chr17	76182312	76183834	E069	-35757
chr17	76183980	76184532	E069	-35059
chr17	76210001	76210934	E069	-8657
chr17	76227680	76228075	E069	8089
chr17	76228123	76228772	E069	8532
chr17	76249949	76250971	E069	30358
chr17	76182312	76183834	E070	-35757
chr17	76210001	76210934	E070	-8657
chr17	76211138	76211212	E070	-8379
chr17	76249949	76250971	E070	30358
chr17	76182312	76183834	E071	-35757
chr17	76183980	76184532	E071	-35059
chr17	76227680	76228075	E071	8089
chr17	76228123	76228772	E071	8532
chr17	76249949	76250971	E071	30358
chr17	76182312	76183834	E072	-35757
chr17	76183980	76184532	E072	-35059
chr17	76210001	76210934	E072	-8657
chr17	76227680	76228075	E072	8089
chr17	76228123	76228772	E072	8532
chr17	76249949	76250971	E072	30358
chr17	76182312	76183834	E073	-35757
chr17	76183980	76184532	E073	-35059
chr17	76227680	76228075	E073	8089
chr17	76228123	76228772	E073	8532
chr17	76249949	76250971	E073	30358
chr17	76182312	76183834	E074	-35757
chr17	76183980	76184532	E074	-35059
chr17	76210001	76210934	E074	-8657
chr17	76227680	76228075	E074	8089
chr17	76228123	76228772	E074	8532
chr17	76249949	76250971	E074	30358
chr17	76182312	76183834	E082	-35757
chr17	76183980	76184532	E082	-35059
chr17	76210001	76210934	E082	-8657
chr17	76211138	76211212	E082	-8379
chr17	76227680	76228075	E082	8089
chr17	76249949	76250971	E082	30358