rs12487817

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0080 (2410/29934,GnomAD)
C=0091 (2657/29118,TOPMED)
C=0160 (803/5008,1000G)
C=0010 (39/3854,ALSPAC)
C=0013 (47/3708,TWINSUK)
chr3:50525135 (GRCh38.p7) (3p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
94 Enhancers around
49 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.50525135T>C
GRCh37.p13 chr 3NC_000003.11:g.50562566T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.807C=0.193
1000GenomesAmericanSub694T=0.760C=0.240
1000GenomesEast AsianSub1008T=0.657C=0.343
1000GenomesEuropeSub1006T=0.990C=0.010
1000GenomesGlobalStudy-wide5008T=0.840C=0.160
1000GenomesSouth AsianSub978T=0.970C=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.990C=0.010
The Genome Aggregation DatabaseAfricanSub8706T=0.845C=0.155
The Genome Aggregation DatabaseAmericanSub838T=0.640C=0.360
The Genome Aggregation DatabaseEast AsianSub1618T=0.677C=0.323
The Genome Aggregation DatabaseEuropeSub18470T=0.987C=0.012
The Genome Aggregation DatabaseGlobalStudy-wide29934T=0.919C=0.080
The Genome Aggregation DatabaseOtherSub302T=0.990C=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.908C=0.091
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.987C=0.013
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs124878170.000433alcohol dependence20201924

eQTL of rs12487817 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 rs12487817 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 )
chr35060330850603382E06740742
chr35060343550603485E06740869
chr35060369450603771E06741128
chr35060383150603871E06741265
chr35053336650533462E068-29104
chr35055290950554395E068-8171
chr35055922350559312E068-3254
chr35057499750575150E06812431
chr35057697550577084E06814409
chr35057709150577622E06814525
chr35058656650586645E06824000
chr35058677250586841E06824206
chr35058693750586997E06824371
chr35060383150603871E06841265
chr35060392850604027E06841362
chr35060392850604027E06941362
chr35060806750608227E06945501
chr35051876350518828E070-43738
chr35052007550520125E070-42441
chr35052221150522271E070-40295
chr35053617950536316E070-26250
chr35053747150537532E070-25034
chr35053785050537926E070-24640
chr35053808550538139E070-24427
chr35055107350551113E070-11453
chr35055290950554395E070-8171
chr35055594050556184E070-6382
chr35055668250556828E070-5738
chr35055922350559312E070-3254
chr35056252150562576E0700
chr35056283650563057E070270
chr35056310850563231E070542
chr35056337050563932E070804
chr35056733650567723E0704770
chr35057093250571013E0708366
chr35057137650571561E0708810
chr35057697550577084E07014409
chr35058693750586997E07024371
chr35060806750608227E07045501
chr35060825150608301E07045685
chr35055290950554395E071-8171
chr35060392850604027E07141362
chr35060806750608227E07145501
chr35060825150608301E07145685
chr35060834250608488E07145776
chr35060946350610006E07146897
chr35055488250554936E072-7630
chr35057438650574536E07211820
chr35057499750575150E07212431
chr35057438650574536E07311820
chr35060806750608227E07345501
chr35060825150608301E07345685
chr35060834250608488E07345776
chr35060392850604027E07441362
chr35060806750608227E07445501
chr35051876350518828E081-43738
chr35053336650533462E081-29104
chr35053369350533773E081-28793
chr35055290950554395E081-8171
chr35055457750554663E081-7903
chr35055488250554936E081-7630
chr35055502750555144E081-7422
chr35055522950555472E081-7094
chr35055571050555828E081-6738
chr35055594050556184E081-6382
chr35055668250556828E081-5738
chr35055689350557337E081-5229
chr35055827750558472E081-4094
chr35056283650563057E081270
chr35056310850563231E081542
chr35056337050563932E081804
chr35056733650567723E0814770
chr35056809850568424E0815532
chr35057093250571013E0818366
chr35057137650571561E0818810
chr35060392850604027E08141362
chr35060806750608227E08145501
chr35053336650533462E082-29104
chr35053369350533773E082-28793
chr35055220850552258E082-10308
chr35055290950554395E082-8171
chr35055457750554663E082-7903
chr35055488250554936E082-7630
chr35055502750555144E082-7422
chr35055522950555472E082-7094
chr35055571050555828E082-6738
chr35055594050556184E082-6382
chr35055668250556828E082-5738
chr35055689350557337E082-5229
chr35056733650567723E0824770
chr35056809850568424E0825532
chr35060136350601573E08238797
chr35060392850604027E08241362
chr35060806750608227E08245501










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35054017350540500E067-22066
chr35054050850540721E067-21845
chr35054085850541815E067-20751
chr35060599450606144E06743428
chr35060619050607443E06743624
chr35060755750607762E06744991
chr35054017350540500E068-22066
chr35054050850540721E068-21845
chr35054085850541815E068-20751
chr35060599450606144E06843428
chr35060619050607443E06843624
chr35060755750607762E06844991
chr35054017350540500E069-22066
chr35054050850540721E069-21845
chr35054085850541815E069-20751
chr35060599450606144E06943428
chr35060619050607443E06943624
chr35060755750607762E06944991
chr35054050850540721E070-21845
chr35054085850541815E070-20751
chr35060599450606144E07043428
chr35060619050607443E07043624
chr35060755750607762E07044991
chr35054050850540721E071-21845
chr35054085850541815E071-20751
chr35060599450606144E07143428
chr35060619050607443E07143624
chr35060755750607762E07144991
chr35054017350540500E072-22066
chr35054050850540721E072-21845
chr35054085850541815E072-20751
chr35060599450606144E07243428
chr35060619050607443E07243624
chr35060755750607762E07244991
chr35054017350540500E073-22066
chr35054050850540721E073-21845
chr35054085850541815E073-20751
chr35060619050607443E07343624
chr35060755750607762E07344991
chr35054017350540500E074-22066
chr35060599450606144E07443428
chr35060619050607443E07443624
chr35060755750607762E07444991
chr35060619050607443E08143624
chr35060755750607762E08144991
chr35054085850541815E082-20751
chr35060599450606144E08243428
chr35060619050607443E08243624
chr35060755750607762E08244991