rs16882302

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

BACH2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0066 (1984/29966,GnomAD)
T=0052 (1518/29118,TOPMED)
T=0081 (408/5008,1000G)
T=0055 (212/3854,ALSPAC)
T=0065 (240/3708,TWINSUK)

Position: chr6:89964732 (GRCh38.p7) (6q15)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 314 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 6	NC_000006.12:g.89964732C>T
GRCh37.p13 chr 6	NC_000006.11:g.90674451C>T

Gene: BACH2, BTB domain and CNC homolog 2(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BACH2 transcript variant 2	NM_001170794.1:c.	N/A	Intron Variant
BACH2 transcript variant 1	NM_021813.3:c.	N/A	Intron Variant
BACH2 transcript variant X10	XM_005248758.4:c.	N/A	Intron Variant
BACH2 transcript variant X15	XM_005248759.4:c.	N/A	Intron Variant
BACH2 transcript variant X12	XM_011536039.2:c.	N/A	Intron Variant
BACH2 transcript variant X7	XM_011536040.2:c.	N/A	Intron Variant
BACH2 transcript variant X1	XM_017011156.1:c.	N/A	Intron Variant
BACH2 transcript variant X2	XM_017011157.1:c.	N/A	Intron Variant
BACH2 transcript variant X3	XM_017011158.1:c.	N/A	Intron Variant
BACH2 transcript variant X4	XM_017011159.1:c.	N/A	Intron Variant
BACH2 transcript variant X5	XM_017011160.1:c.	N/A	Intron Variant
BACH2 transcript variant X6	XM_017011161.1:c.	N/A	Intron Variant
BACH2 transcript variant X7	XM_017011162.1:c.	N/A	Intron Variant
BACH2 transcript variant X8	XM_017011163.1:c.	N/A	Intron Variant
BACH2 transcript variant X9	XM_017011164.1:c.	N/A	Intron Variant
BACH2 transcript variant X11	XM_017011165.1:c.	N/A	Intron Variant
BACH2 transcript variant X13	XM_017011166.1:c.	N/A	Intron Variant
BACH2 transcript variant X16	XM_017011167.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.959	T=0.041
1000Genomes	American	Sub	694	C=0.930	T=0.070
1000Genomes	East Asian	Sub	1008	C=0.794	T=0.206
1000Genomes	Europe	Sub	1006	C=0.942	T=0.058
1000Genomes	Global	Study-wide	5008	C=0.919	T=0.081
1000Genomes	South Asian	Sub	978	C=0.960	T=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.945	T=0.055
The Genome Aggregation Database	African	Sub	8724	C=0.947	T=0.053
The Genome Aggregation Database	American	Sub	838	C=0.930	T=0.070
The Genome Aggregation Database	East Asian	Sub	1616	C=0.787	T=0.213
The Genome Aggregation Database	Europe	Sub	18488	C=0.941	T=0.058
The Genome Aggregation Database	Global	Study-wide	29966	C=0.933	T=0.066
The Genome Aggregation Database	Other	Sub	300	C=0.910	T=0.090
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.947	T=0.052
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.935	T=0.065

PMID	Title	Author	Journal
20158304	A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.	Lind PA	Twin Res Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs16882302	2.28E-07	alcohol and nictotine co-dependence	20158304

eQTL of rs16882302 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 rs16882302 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 )
chr6	90637603	90637989	E067	-36462
chr6	90638006	90638108	E067	-36343
chr6	90650118	90650484	E067	-23967
chr6	90650485	90650555	E067	-23896
chr6	90650795	90651082	E067	-23369
chr6	90651152	90651356	E067	-23095
chr6	90651585	90651700	E067	-22751
chr6	90651750	90651928	E067	-22523
chr6	90652033	90652099	E067	-22352
chr6	90652280	90652320	E067	-22131
chr6	90658299	90658388	E067	-16063
chr6	90658761	90658889	E067	-15562
chr6	90658964	90659069	E067	-15382
chr6	90660803	90661227	E067	-13224
chr6	90661327	90661584	E067	-12867
chr6	90661864	90661994	E067	-12457
chr6	90662045	90662999	E067	-11452
chr6	90672050	90672147	E067	-2304
chr6	90675906	90676350	E067	1455
chr6	90687446	90688333	E067	12995
chr6	90688590	90688679	E067	14139
chr6	90688758	90688812	E067	14307
chr6	90688898	90688978	E067	14447
chr6	90689078	90689236	E067	14627
chr6	90696331	90696839	E067	21880
chr6	90707515	90707584	E067	33064
chr6	90707804	90708305	E067	33353
chr6	90708545	90708924	E067	34094
chr6	90708978	90709178	E067	34527
chr6	90637603	90637989	E068	-36462
chr6	90638006	90638108	E068	-36343
chr6	90638445	90638572	E068	-35879
chr6	90650118	90650484	E068	-23967
chr6	90650485	90650555	E068	-23896
chr6	90651585	90651700	E068	-22751
chr6	90651750	90651928	E068	-22523
chr6	90652033	90652099	E068	-22352
chr6	90652280	90652320	E068	-22131
chr6	90658761	90658889	E068	-15562
chr6	90658964	90659069	E068	-15382
chr6	90660803	90661227	E068	-13224
chr6	90661327	90661584	E068	-12867
chr6	90661864	90661994	E068	-12457
chr6	90662045	90662999	E068	-11452
chr6	90663286	90663527	E068	-10924
chr6	90680685	90681110	E068	6234
chr6	90687446	90688333	E068	12995
chr6	90688590	90688679	E068	14139
chr6	90688758	90688812	E068	14307
chr6	90688898	90688978	E068	14447
chr6	90689078	90689236	E068	14627
chr6	90694708	90696138	E068	20257
chr6	90696331	90696839	E068	21880
chr6	90696971	90697115	E068	22520
chr6	90699488	90699852	E068	25037
chr6	90707515	90707584	E068	33064
chr6	90707804	90708305	E068	33353
chr6	90708545	90708924	E068	34094
chr6	90708978	90709178	E068	34527
chr6	90637603	90637989	E069	-36462
chr6	90638006	90638108	E069	-36343
chr6	90650118	90650484	E069	-23967
chr6	90650485	90650555	E069	-23896
chr6	90651585	90651700	E069	-22751
chr6	90651750	90651928	E069	-22523
chr6	90652033	90652099	E069	-22352
chr6	90652280	90652320	E069	-22131
chr6	90658299	90658388	E069	-16063
chr6	90658761	90658889	E069	-15562
chr6	90658964	90659069	E069	-15382
chr6	90660803	90661227	E069	-13224
chr6	90661864	90661994	E069	-12457
chr6	90662045	90662999	E069	-11452
chr6	90675906	90676350	E069	1455
chr6	90676654	90676694	E069	2203
chr6	90680217	90680383	E069	5766
chr6	90680419	90680648	E069	5968
chr6	90680685	90681110	E069	6234
chr6	90687446	90688333	E069	12995
chr6	90688590	90688679	E069	14139
chr6	90688758	90688812	E069	14307
chr6	90688898	90688978	E069	14447
chr6	90696331	90696839	E069	21880
chr6	90696971	90697115	E069	22520
chr6	90708545	90708924	E069	34094
chr6	90708978	90709178	E069	34527
chr6	90650795	90651082	E070	-23369
chr6	90651152	90651356	E070	-23095
chr6	90651585	90651700	E070	-22751
chr6	90651750	90651928	E070	-22523
chr6	90652033	90652099	E070	-22352
chr6	90661327	90661584	E070	-12867
chr6	90661864	90661994	E070	-12457
chr6	90662045	90662999	E070	-11452
chr6	90663286	90663527	E070	-10924
chr6	90669892	90669981	E070	-4470
chr6	90672050	90672147	E070	-2304
chr6	90680217	90680383	E070	5766
chr6	90680419	90680648	E070	5968
chr6	90683866	90683917	E070	9415
chr6	90683926	90683987	E070	9475
chr6	90684231	90684326	E070	9780
chr6	90684376	90684468	E070	9925
chr6	90684570	90684991	E070	10119
chr6	90685014	90685298	E070	10563
chr6	90685379	90685447	E070	10928
chr6	90685628	90685672	E070	11177
chr6	90685914	90686114	E070	11463
chr6	90686193	90686268	E070	11742
chr6	90686511	90686561	E070	12060
chr6	90687185	90687316	E070	12734
chr6	90688590	90688679	E070	14139
chr6	90688758	90688812	E070	14307
chr6	90688898	90688978	E070	14447
chr6	90689078	90689236	E070	14627
chr6	90694708	90696138	E070	20257
chr6	90696331	90696839	E070	21880
chr6	90707804	90708305	E070	33353
chr6	90708545	90708924	E070	34094
chr6	90708978	90709178	E070	34527
chr6	90637603	90637989	E071	-36462
chr6	90638006	90638108	E071	-36343
chr6	90639369	90639541	E071	-34910
chr6	90639604	90639914	E071	-34537
chr6	90650118	90650484	E071	-23967
chr6	90650485	90650555	E071	-23896
chr6	90651585	90651700	E071	-22751
chr6	90651750	90651928	E071	-22523
chr6	90652033	90652099	E071	-22352
chr6	90652280	90652320	E071	-22131
chr6	90658761	90658889	E071	-15562
chr6	90658964	90659069	E071	-15382
chr6	90660803	90661227	E071	-13224
chr6	90662045	90662999	E071	-11452
chr6	90663286	90663527	E071	-10924
chr6	90663577	90663622	E071	-10829
chr6	90672050	90672147	E071	-2304
chr6	90675906	90676350	E071	1455
chr6	90680217	90680383	E071	5766
chr6	90680419	90680648	E071	5968
chr6	90680685	90681110	E071	6234
chr6	90687446	90688333	E071	12995
chr6	90688590	90688679	E071	14139
chr6	90688758	90688812	E071	14307
chr6	90688898	90688978	E071	14447
chr6	90689078	90689236	E071	14627
chr6	90696331	90696839	E071	21880
chr6	90707515	90707584	E071	33064
chr6	90707804	90708305	E071	33353
chr6	90637603	90637989	E072	-36462
chr6	90638006	90638108	E072	-36343
chr6	90650118	90650484	E072	-23967
chr6	90650485	90650555	E072	-23896
chr6	90651585	90651700	E072	-22751
chr6	90651750	90651928	E072	-22523
chr6	90652033	90652099	E072	-22352
chr6	90652280	90652320	E072	-22131
chr6	90658299	90658388	E072	-16063
chr6	90658761	90658889	E072	-15562
chr6	90658964	90659069	E072	-15382
chr6	90661864	90661994	E072	-12457
chr6	90662045	90662999	E072	-11452
chr6	90672050	90672147	E072	-2304
chr6	90675906	90676350	E072	1455
chr6	90676654	90676694	E072	2203
chr6	90680419	90680648	E072	5968
chr6	90680685	90681110	E072	6234
chr6	90687446	90688333	E072	12995
chr6	90696331	90696839	E072	21880
chr6	90696971	90697115	E072	22520
chr6	90699488	90699852	E072	25037
chr6	90699873	90699972	E072	25422
chr6	90707515	90707584	E072	33064
chr6	90707804	90708305	E072	33353
chr6	90708545	90708924	E072	34094
chr6	90708978	90709178	E072	34527
chr6	90709210	90709422	E072	34759
chr6	90709673	90709983	E072	35222
chr6	90710133	90710203	E072	35682
chr6	90710249	90710363	E072	35798
chr6	90711281	90711397	E072	36830
chr6	90639604	90639914	E073	-34537
chr6	90651585	90651700	E073	-22751
chr6	90651750	90651928	E073	-22523
chr6	90652033	90652099	E073	-22352
chr6	90652280	90652320	E073	-22131
chr6	90658299	90658388	E073	-16063
chr6	90658761	90658889	E073	-15562
chr6	90658964	90659069	E073	-15382
chr6	90659627	90659684	E073	-14767
chr6	90660214	90660260	E073	-14191
chr6	90660460	90660510	E073	-13941
chr6	90660803	90661227	E073	-13224
chr6	90661327	90661584	E073	-12867
chr6	90661864	90661994	E073	-12457
chr6	90662045	90662999	E073	-11452
chr6	90672050	90672147	E073	-2304
chr6	90675906	90676350	E073	1455
chr6	90680419	90680648	E073	5968
chr6	90680685	90681110	E073	6234
chr6	90687446	90688333	E073	12995
chr6	90688590	90688679	E073	14139
chr6	90694708	90696138	E073	20257
chr6	90696331	90696839	E073	21880
chr6	90696971	90697115	E073	22520
chr6	90708978	90709178	E073	34527
chr6	90718904	90719206	E073	44453
chr6	90637603	90637989	E074	-36462
chr6	90638006	90638108	E074	-36343
chr6	90650118	90650484	E074	-23967
chr6	90650485	90650555	E074	-23896
chr6	90651750	90651928	E074	-22523
chr6	90652033	90652099	E074	-22352
chr6	90652280	90652320	E074	-22131
chr6	90658761	90658889	E074	-15562
chr6	90658964	90659069	E074	-15382
chr6	90660803	90661227	E074	-13224
chr6	90661864	90661994	E074	-12457
chr6	90662045	90662999	E074	-11452
chr6	90675906	90676350	E074	1455
chr6	90680217	90680383	E074	5766
chr6	90680419	90680648	E074	5968
chr6	90680685	90681110	E074	6234
chr6	90687446	90688333	E074	12995
chr6	90688590	90688679	E074	14139
chr6	90688758	90688812	E074	14307
chr6	90688898	90688978	E074	14447
chr6	90689078	90689236	E074	14627
chr6	90694708	90696138	E074	20257
chr6	90696331	90696839	E074	21880
chr6	90696971	90697115	E074	22520
chr6	90708545	90708924	E074	34094
chr6	90708978	90709178	E074	34527
chr6	90718651	90718794	E074	44200
chr6	90650795	90651082	E081	-23369
chr6	90651152	90651356	E081	-23095
chr6	90651585	90651700	E081	-22751
chr6	90651750	90651928	E081	-22523
chr6	90652033	90652099	E081	-22352
chr6	90652280	90652320	E081	-22131
chr6	90661327	90661584	E081	-12867
chr6	90661864	90661994	E081	-12457
chr6	90662045	90662999	E081	-11452
chr6	90675906	90676350	E081	1455
chr6	90676654	90676694	E081	2203
chr6	90677209	90677258	E081	2758
chr6	90679310	90679384	E081	4859
chr6	90679449	90679722	E081	4998
chr6	90679910	90680056	E081	5459
chr6	90680217	90680383	E081	5766
chr6	90680419	90680648	E081	5968
chr6	90680685	90681110	E081	6234
chr6	90681639	90681739	E081	7188
chr6	90681984	90682054	E081	7533
chr6	90683249	90683317	E081	8798
chr6	90683866	90683917	E081	9415
chr6	90683926	90683987	E081	9475
chr6	90684231	90684326	E081	9780
chr6	90684376	90684468	E081	9925
chr6	90684570	90684991	E081	10119
chr6	90685014	90685298	E081	10563
chr6	90685379	90685447	E081	10928
chr6	90685628	90685672	E081	11177
chr6	90685914	90686114	E081	11463
chr6	90686193	90686268	E081	11742
chr6	90686511	90686561	E081	12060
chr6	90687185	90687316	E081	12734
chr6	90687446	90688333	E081	12995
chr6	90688590	90688679	E081	14139
chr6	90688758	90688812	E081	14307
chr6	90688898	90688978	E081	14447
chr6	90694708	90696138	E081	20257
chr6	90707515	90707584	E081	33064
chr6	90707804	90708305	E081	33353
chr6	90708545	90708924	E081	34094
chr6	90708978	90709178	E081	34527
chr6	90709210	90709422	E081	34759
chr6	90709673	90709983	E081	35222
chr6	90710133	90710203	E081	35682
chr6	90710249	90710363	E081	35798
chr6	90651585	90651700	E082	-22751
chr6	90651750	90651928	E082	-22523
chr6	90661327	90661584	E082	-12867
chr6	90661864	90661994	E082	-12457
chr6	90662045	90662999	E082	-11452
chr6	90679310	90679384	E082	4859
chr6	90679449	90679722	E082	4998
chr6	90679910	90680056	E082	5459
chr6	90680217	90680383	E082	5766
chr6	90680419	90680648	E082	5968
chr6	90680685	90681110	E082	6234
chr6	90683866	90683917	E082	9415
chr6	90683926	90683987	E082	9475
chr6	90684231	90684326	E082	9780
chr6	90684376	90684468	E082	9925
chr6	90684570	90684991	E082	10119
chr6	90685628	90685672	E082	11177
chr6	90685914	90686114	E082	11463
chr6	90686193	90686268	E082	11742
chr6	90686511	90686561	E082	12060
chr6	90687185	90687316	E082	12734
chr6	90687446	90688333	E082	12995
chr6	90688898	90688978	E082	14447
chr6	90689078	90689236	E082	14627
chr6	90694708	90696138	E082	20257
chr6	90696331	90696839	E082	21880
chr6	90707515	90707584	E082	33064
chr6	90707804	90708305	E082	33353
chr6	90708545	90708924	E082	34094
chr6	90708978	90709178	E082	34527
chr6	90709210	90709422	E082	34759
chr6	90709673	90709983	E082	35222
chr6	90710133	90710203	E082	35682
chr6	90710249	90710363	E082	35798