rs7312976

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0206 (6118/29652,GnomAD)
C=0237 (6919/29118,TOPMED)
C=0164 (819/5008,1000G)
C=0174 (671/3854,ALSPAC)
C=0182 (675/3708,TWINSUK)
chr12:69442845 (GRCh38.p7) (12q15)
CD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.69442845T>C
GRCh37.p13 chr 12NC_000012.11:g.69836625T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.620C=0.380
1000GenomesAmericanSub694T=0.880C=0.120
1000GenomesEast AsianSub1008T=0.999C=0.001
1000GenomesEuropeSub1006T=0.829C=0.171
1000GenomesGlobalStudy-wide5008T=0.836C=0.164
1000GenomesSouth AsianSub978T=0.930C=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.826C=0.174
The Genome Aggregation DatabaseAfricanSub8596T=0.672C=0.328
The Genome Aggregation DatabaseAmericanSub830T=0.880C=0.120
The Genome Aggregation DatabaseEast AsianSub1618T=0.999C=0.001
The Genome Aggregation DatabaseEuropeSub18308T=0.827C=0.172
The Genome Aggregation DatabaseGlobalStudy-wide29652T=0.793C=0.206
The Genome Aggregation DatabaseOtherSub300T=0.850C=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.762C=0.237
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.818C=0.182
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs73129760.0000144cocaine dependence(ALL)23958962
rs73129760.0000577cocaine dependence(EA)23958962

eQTL of rs7312976 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 rs7312976 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 )
chr126982481369825510E067-11115
chr126982553769825875E067-10750
chr126983107669831126E067-5499
chr126983126569831390E067-5235
chr126983140669831491E067-5134
chr126985312869853614E06716503
chr126985384169853891E06717216
chr126985418169854294E06717556
chr126986594969866018E06729324
chr126986634769866397E06729722
chr126986679269866852E06730167
chr126986828269868573E06731657
chr126986874169868791E06732116
chr126986891669869653E06732291
chr126987646369876525E06739838
chr126987693469876988E06740309
chr126987714369877197E06740518
chr126987763969877772E06741014
chr126988596669886010E06749341
chr126988604669886126E06749421
chr126982553769825875E068-10750
chr126982952569829633E068-6992
chr126982970569829789E068-6836
chr126983012569830175E068-6450
chr126983107669831126E068-5499
chr126983126569831390E068-5235
chr126983140669831491E068-5134
chr126983164069831807E068-4818
chr126983197869832028E068-4597
chr126985312869853614E06816503
chr126985384169853891E06817216
chr126985418169854294E06817556
chr126986679269866852E06830167
chr126986744369867607E06830818
chr126986828269868573E06831657
chr126986874169868791E06832116
chr126987646369876525E06839838
chr126987693469876988E06840309
chr126987714369877197E06840518
chr126987810169878310E06841476
chr126987833569878448E06841710
chr126987846069878575E06841835
chr126988450469884773E06847879
chr126988479269885007E06848167
chr126980932069810516E069-26109
chr126982481369825510E069-11115
chr126985312869853614E06916503
chr126985384169853891E06917216
chr126985418169854294E06917556
chr126986594969866018E06929324
chr126986634769866397E06929722
chr126986744369867607E06930818
chr126986801569868088E06931390
chr126986828269868573E06931657
chr126986874169868791E06932116
chr126987846069878575E06941835
chr126988596669886010E06949341
chr126988604669886126E06949421
chr126986594969866018E07029324
chr126986634769866397E07029722
chr126986679269866852E07030167
chr126986801569868088E07031390
chr126986828269868573E07031657
chr126986874169868791E07032116
chr126986891669869653E07032291
chr126986986369869931E07033238
chr126986996469870025E07033339
chr126980932069810516E071-26109
chr126982320969823259E071-13366
chr126982337069823492E071-13133
chr126982481369825510E071-11115
chr126982553769825875E071-10750
chr126982952569829633E071-6992
chr126982970569829789E071-6836
chr126983012569830175E071-6450
chr126983107669831126E071-5499
chr126985312869853614E07116503
chr126985384169853891E07117216
chr126985418169854294E07117556
chr126986038869860476E07123763
chr126986060769861091E07123982
chr126986111269861166E07124487
chr126986634769866397E07129722
chr126986679269866852E07130167
chr126986744369867607E07130818
chr126986801569868088E07131390
chr126986828269868573E07131657
chr126986874169868791E07132116
chr126987290069873000E07136275
chr126987385369873907E07137228
chr126987391169873961E07137286
chr126988435669884410E07147731
chr126982209669822705E072-13920
chr126982481369825510E072-11115
chr126982553769825875E072-10750
chr126983140669831491E072-5134
chr126983164069831807E072-4818
chr126985312869853614E07216503
chr126985384169853891E07217216
chr126985418169854294E07217556
chr126986594969866018E07229324
chr126986634769866397E07229722
chr126986679269866852E07230167
chr126986744369867607E07230818
chr126987714369877197E07240518
chr126988479269885007E07248167
chr126988508969885250E07248464
chr126988596669886010E07249341
chr126988604669886126E07249421
chr126980932069810516E073-26109
chr126982939369829443E073-7182
chr126982952569829633E073-6992
chr126982970569829789E073-6836
chr126983107669831126E073-5499
chr126986594969866018E07329324
chr126986634769866397E07329722
chr126986679269866852E07330167
chr126986744369867607E07330818
chr126986801569868088E07331390
chr126986828269868573E07331657
chr126987004269870487E07333417
chr126980932069810516E074-26109
chr126982553769825875E074-10750
chr126983140669831491E074-5134
chr126985312869853614E07416503
chr126985384169853891E07417216
chr126985418169854294E07417556
chr126985574969855798E07419124
chr126985621969856297E07419594
chr126986594969866018E07429324
chr126986634769866397E07429722
chr126986679269866852E07430167
chr126987646369876525E07439838
chr126987693469876988E07440309
chr126987714369877197E07440518
chr126986594969866018E08129324
chr126986801569868088E08131390
chr126986828269868573E08131657
chr126986679269866852E08230167
chr126986744369867607E08230818
chr126986801569868088E08231390
chr126986828269868573E08231657
chr126986874169868791E08232116
chr126986891669869653E08232291
chr126986986369869931E08233238
chr126986996469870025E08233339
chr126987004269870487E08233417










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr126986365769865044E06727032
chr126986505469865162E06728429
chr126986365769865044E06827032
chr126986505469865162E06828429
chr126986365769865044E06927032
chr126986505469865162E06928429
chr126986365769865044E07027032
chr126986505469865162E07028429
chr126986365769865044E07127032
chr126986505469865162E07128429
chr126986365769865044E07227032
chr126986505469865162E07228429
chr126986365769865044E07327032
chr126986505469865162E07328429
chr126986365769865044E07427032
chr126986505469865162E07428429
chr126986365769865044E08127032
chr126986505469865162E08128429
chr126986365769865044E08227032
chr126986505469865162E08228429