rs751442

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

KLF17 : 2KB Upstream Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0248 (7429/29880,GnomAD)
A==0230 (6709/29118,TOPMED)
A==0205 (1027/5008,1000G)
A==0274 (1056/3854,ALSPAC)
A==0290 (1074/3708,TWINSUK)

Position: chr1:44043879 (GRCh38.p7) (1p34.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 208 Enhancers around

Promoter: 9 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.44043879A>C
GRCh37.p13 chr 1	NC_000001.10:g.44509551A>C

Gene: KLF17, Kruppel-like factor 17(plus strand): 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
KLF17 transcript	NM_173484.3:c.	N/A	N/A
KLF17 transcript variant X1	XM_011540700.1:c.	N/A	Upstream Transcript Variant
KLF17 transcript variant X2	XM_005270465.3:c.	N/A	N/A
KLF17 transcript variant X3	XM_011540704.2:c.	N/A	N/A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.143	C=0.857
1000Genomes	American	Sub	694	A=0.170	C=0.830
1000Genomes	East Asian	Sub	1008	A=0.203	C=0.797
1000Genomes	Europe	Sub	1006	A=0.273	C=0.727
1000Genomes	Global	Study-wide	5008	A=0.205	C=0.795
1000Genomes	South Asian	Sub	978	A=0.240	C=0.760
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.274	C=0.726
The Genome Aggregation Database	African	Sub	8706	A=0.181	C=0.819
The Genome Aggregation Database	American	Sub	838	A=0.170	C=0.830
The Genome Aggregation Database	East Asian	Sub	1612	A=0.213	C=0.787
The Genome Aggregation Database	Europe	Sub	18424	A=0.285	C=0.714
The Genome Aggregation Database	Global	Study-wide	29880	A=0.248	C=0.751
The Genome Aggregation Database	Other	Sub	300	A=0.370	C=0.630
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.230	C=0.769
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.290	C=0.710

PMID	Title	Author	Journal
17158188	Novel genes identified in a high-density genome wide association study for nicotine dependence.	Bierut LJ	Hum Mol Genet

P-Value

SNP ID	p-value	Traits	Study
rs751442	0.000544	nicotine dependence	17158188

eQTL of rs751442 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 rs751442 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 )
chr1	44461994	44462167	E067	-47384
chr1	44476633	44477063	E067	-32488
chr1	44477192	44477324	E067	-32227
chr1	44477369	44477512	E067	-32039
chr1	44478030	44478327	E067	-31224
chr1	44479028	44479204	E067	-30347
chr1	44479243	44479320	E067	-30231
chr1	44479444	44479552	E067	-29999
chr1	44479704	44479888	E067	-29663
chr1	44480232	44480289	E067	-29262
chr1	44480312	44480362	E067	-29189
chr1	44480920	44480970	E067	-28581
chr1	44481661	44481800	E067	-27751
chr1	44485029	44485558	E067	-23993
chr1	44485799	44486015	E067	-23536
chr1	44486910	44487084	E067	-22467
chr1	44487620	44487696	E067	-21855
chr1	44501443	44501600	E067	-7951
chr1	44501610	44502002	E067	-7549
chr1	44502029	44502772	E067	-6779
chr1	44461994	44462167	E068	-47384
chr1	44462499	44462543	E068	-47008
chr1	44471307	44471900	E068	-37651
chr1	44476633	44477063	E068	-32488
chr1	44477192	44477324	E068	-32227
chr1	44477369	44477512	E068	-32039
chr1	44478030	44478327	E068	-31224
chr1	44479028	44479204	E068	-30347
chr1	44479243	44479320	E068	-30231
chr1	44479704	44479888	E068	-29663
chr1	44480232	44480289	E068	-29262
chr1	44480312	44480362	E068	-29189
chr1	44480920	44480970	E068	-28581
chr1	44485029	44485558	E068	-23993
chr1	44485799	44486015	E068	-23536
chr1	44486910	44487084	E068	-22467
chr1	44487620	44487696	E068	-21855
chr1	44501443	44501600	E068	-7951
chr1	44501610	44502002	E068	-7549
chr1	44502029	44502772	E068	-6779
chr1	44512922	44513100	E068	3371
chr1	44461395	44461449	E069	-48102
chr1	44461994	44462167	E069	-47384
chr1	44462499	44462543	E069	-47008
chr1	44464998	44465048	E069	-44503
chr1	44476633	44477063	E069	-32488
chr1	44477192	44477324	E069	-32227
chr1	44477369	44477512	E069	-32039
chr1	44478030	44478327	E069	-31224
chr1	44479028	44479204	E069	-30347
chr1	44479243	44479320	E069	-30231
chr1	44479444	44479552	E069	-29999
chr1	44479704	44479888	E069	-29663
chr1	44485029	44485558	E069	-23993
chr1	44485799	44486015	E069	-23536
chr1	44486910	44487084	E069	-22467
chr1	44487620	44487696	E069	-21855
chr1	44494886	44494937	E069	-14614
chr1	44501443	44501600	E069	-7951
chr1	44501610	44502002	E069	-7549
chr1	44502029	44502772	E069	-6779
chr1	44502825	44502927	E069	-6624
chr1	44502951	44503034	E069	-6517
chr1	44513276	44514241	E069	3725
chr1	44478030	44478327	E070	-31224
chr1	44479028	44479204	E070	-30347
chr1	44479243	44479320	E070	-30231
chr1	44479444	44479552	E070	-29999
chr1	44485029	44485558	E070	-23993
chr1	44485799	44486015	E070	-23536
chr1	44494886	44494937	E070	-14614
chr1	44501610	44502002	E070	-7549
chr1	44502029	44502772	E070	-6779
chr1	44502825	44502927	E070	-6624
chr1	44502951	44503034	E070	-6517
chr1	44503143	44503208	E070	-6343
chr1	44460528	44460842	E071	-48709
chr1	44461395	44461449	E071	-48102
chr1	44461994	44462167	E071	-47384
chr1	44462499	44462543	E071	-47008
chr1	44462935	44463280	E071	-46271
chr1	44463371	44463523	E071	-46028
chr1	44471307	44471900	E071	-37651
chr1	44476633	44477063	E071	-32488
chr1	44477192	44477324	E071	-32227
chr1	44477369	44477512	E071	-32039
chr1	44478030	44478327	E071	-31224
chr1	44479028	44479204	E071	-30347
chr1	44479243	44479320	E071	-30231
chr1	44479444	44479552	E071	-29999
chr1	44479704	44479888	E071	-29663
chr1	44480232	44480289	E071	-29262
chr1	44480312	44480362	E071	-29189
chr1	44480920	44480970	E071	-28581
chr1	44485029	44485558	E071	-23993
chr1	44485799	44486015	E071	-23536
chr1	44486910	44487084	E071	-22467
chr1	44487620	44487696	E071	-21855
chr1	44494886	44494937	E071	-14614
chr1	44497891	44498046	E071	-11505
chr1	44501443	44501600	E071	-7951
chr1	44501610	44502002	E071	-7549
chr1	44502029	44502772	E071	-6779
chr1	44502825	44502927	E071	-6624
chr1	44502951	44503034	E071	-6517
chr1	44513276	44514241	E071	3725
chr1	44514297	44514429	E071	4746
chr1	44461994	44462167	E072	-47384
chr1	44462499	44462543	E072	-47008
chr1	44471307	44471900	E072	-37651
chr1	44476633	44477063	E072	-32488
chr1	44477192	44477324	E072	-32227
chr1	44477369	44477512	E072	-32039
chr1	44478030	44478327	E072	-31224
chr1	44479028	44479204	E072	-30347
chr1	44479243	44479320	E072	-30231
chr1	44479444	44479552	E072	-29999
chr1	44480232	44480289	E072	-29262
chr1	44480312	44480362	E072	-29189
chr1	44480920	44480970	E072	-28581
chr1	44481661	44481800	E072	-27751
chr1	44485029	44485558	E072	-23993
chr1	44485799	44486015	E072	-23536
chr1	44486910	44487084	E072	-22467
chr1	44487620	44487696	E072	-21855
chr1	44501443	44501600	E072	-7951
chr1	44501610	44502002	E072	-7549
chr1	44502029	44502772	E072	-6779
chr1	44513276	44514241	E072	3725
chr1	44514297	44514429	E072	4746
chr1	44461994	44462167	E073	-47384
chr1	44462499	44462543	E073	-47008
chr1	44471307	44471900	E073	-37651
chr1	44476633	44477063	E073	-32488
chr1	44477192	44477324	E073	-32227
chr1	44477369	44477512	E073	-32039
chr1	44478030	44478327	E073	-31224
chr1	44479028	44479204	E073	-30347
chr1	44479243	44479320	E073	-30231
chr1	44479444	44479552	E073	-29999
chr1	44479704	44479888	E073	-29663
chr1	44480232	44480289	E073	-29262
chr1	44480312	44480362	E073	-29189
chr1	44480920	44480970	E073	-28581
chr1	44481661	44481800	E073	-27751
chr1	44485029	44485558	E073	-23993
chr1	44486910	44487084	E073	-22467
chr1	44487620	44487696	E073	-21855
chr1	44494886	44494937	E073	-14614
chr1	44499812	44499852	E073	-9699
chr1	44501443	44501600	E073	-7951
chr1	44501610	44502002	E073	-7549
chr1	44502029	44502772	E073	-6779
chr1	44513276	44514241	E073	3725
chr1	44461994	44462167	E074	-47384
chr1	44462499	44462543	E074	-47008
chr1	44462935	44463280	E074	-46271
chr1	44463371	44463523	E074	-46028
chr1	44463542	44463673	E074	-45878
chr1	44463925	44464016	E074	-45535
chr1	44464998	44465048	E074	-44503
chr1	44476633	44477063	E074	-32488
chr1	44477192	44477324	E074	-32227
chr1	44477369	44477512	E074	-32039
chr1	44478030	44478327	E074	-31224
chr1	44479243	44479320	E074	-30231
chr1	44479444	44479552	E074	-29999
chr1	44480920	44480970	E074	-28581
chr1	44485029	44485558	E074	-23993
chr1	44485799	44486015	E074	-23536
chr1	44486910	44487084	E074	-22467
chr1	44487620	44487696	E074	-21855
chr1	44494886	44494937	E074	-14614
chr1	44501443	44501600	E074	-7951
chr1	44501610	44502002	E074	-7549
chr1	44502029	44502772	E074	-6779
chr1	44502825	44502927	E074	-6624
chr1	44502951	44503034	E074	-6517
chr1	44503143	44503208	E074	-6343
chr1	44513276	44514241	E074	3725
chr1	44514297	44514429	E074	4746
chr1	44476633	44477063	E081	-32488
chr1	44477192	44477324	E081	-32227
chr1	44477369	44477512	E081	-32039
chr1	44478030	44478327	E081	-31224
chr1	44479028	44479204	E081	-30347
chr1	44479243	44479320	E081	-30231
chr1	44479444	44479552	E081	-29999
chr1	44479704	44479888	E081	-29663
chr1	44480232	44480289	E081	-29262
chr1	44480312	44480362	E081	-29189
chr1	44480920	44480970	E081	-28581
chr1	44481661	44481800	E081	-27751
chr1	44485799	44486015	E081	-23536
chr1	44494230	44494415	E081	-15136
chr1	44494886	44494937	E081	-14614
chr1	44501610	44502002	E081	-7549
chr1	44502029	44502772	E081	-6779
chr1	44513276	44514241	E081	3725
chr1	44478030	44478327	E082	-31224
chr1	44479028	44479204	E082	-30347
chr1	44479243	44479320	E082	-30231
chr1	44479444	44479552	E082	-29999
chr1	44479704	44479888	E082	-29663
chr1	44485029	44485558	E082	-23993
chr1	44485799	44486015	E082	-23536
chr1	44501610	44502002	E082	-7549
chr1	44502029	44502772	E082	-6779

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	44495208	44497696	E067	-11855
chr1	44495208	44497696	E068	-11855
chr1	44495208	44497696	E069	-11855
chr1	44495208	44497696	E070	-11855
chr1	44495208	44497696	E071	-11855
chr1	44495208	44497696	E072	-11855
chr1	44495208	44497696	E073	-11855
chr1	44495208	44497696	E074	-11855
chr1	44495208	44497696	E082	-11855