rs2011946

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0463 (13864/29920,GnomAD)
A=0400 (11664/29118,TOPMED)
A=0244 (1223/5008,1000G)
C==0263 (1012/3854,ALSPAC)
C==0278 (1029/3708,TWINSUK)
chr2:136060046 (GRCh38.p7) (2q21.3)
AD
GWASdb2
4   publication(s)
See rs on genome
128 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.136060046C>A
GRCh37.p13 chr 2NC_000002.11:g.136817616C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.875A=0.125
1000GenomesAmericanSub694C=0.700A=0.300
1000GenomesEast AsianSub1008C=0.890A=0.110
1000GenomesEuropeSub1006C=0.447A=0.553
1000GenomesGlobalStudy-wide5008C=0.756A=0.244
1000GenomesSouth AsianSub978C=0.810A=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.263A=0.737
The Genome Aggregation DatabaseAfricanSub8718C=0.797A=0.203
The Genome Aggregation DatabaseAmericanSub836C=0.700A=0.300
The Genome Aggregation DatabaseEast AsianSub1612C=0.881A=0.119
The Genome Aggregation DatabaseEuropeSub18452C=0.372A=0.627
The Genome Aggregation DatabaseGlobalStudy-wide29920C=0.536A=0.463
The Genome Aggregation DatabaseOtherSub302C=0.750A=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.599A=0.400
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.278A=0.722
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res
20015952European lactase persistence genotype shows evidence of association with increase in body mass index.Kettunen JHum Mol Genet
24931982GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database.Leslie RBioinformatics
20202923A genome-wide association study of alcohol dependence.Bierut LJProc Natl Acad Sci U S A

P-Value

SNP ID p-value Traits Study
rs20119460.00000415alcohol dependence20202923
rs20119460.0000673alcohol dependence21703634

eQTL of rs2011946 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:136817616MCM6ENSG00000076003.4C>A7.0272e-6183620Cerebellum

meQTL of rs2011946 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 )
chr2136770065136770129E067-47487
chr2136770975136771080E067-46536
chr2136771350136771413E067-46203
chr2136771522136771951E067-45665
chr2136772034136772302E067-45314
chr2136778490136778716E067-38900
chr2136782316136782505E067-35111
chr2136806468136807174E067-10442
chr2136807561136807801E067-9815
chr2136826478136826675E0678862
chr2136827078136827118E0679462
chr2136771350136771413E068-46203
chr2136771522136771951E068-45665
chr2136776893136777265E068-40351
chr2136777280136777673E068-39943
chr2136778490136778716E068-38900
chr2136780636136780856E068-36760
chr2136781147136781328E068-36288
chr2136783896136783986E068-33630
chr2136787911136788015E068-29601
chr2136788016136788872E068-28744
chr2136789474136789632E068-27984
chr2136806468136807174E068-10442
chr2136807561136807801E068-9815
chr2136808128136808411E068-9205
chr2136771522136771951E069-45665
chr2136776893136777265E069-40351
chr2136777280136777673E069-39943
chr2136778205136778245E069-39371
chr2136778490136778716E069-38900
chr2136779071136779414E069-38202
chr2136779500136779582E069-38034
chr2136782316136782505E069-35111
chr2136783896136783986E069-33630
chr2136788016136788872E069-28744
chr2136806468136807174E069-10442
chr2136807561136807801E069-9815
chr2136823010136823304E0695394
chr2136823409136823459E0695793
chr2136825566136826416E0697950
chr2136826478136826675E0698862
chr2136817850136818408E070234
chr2136822271136822604E0704655
chr2136822833136822878E0705217
chr2136823010136823304E0705394
chr2136823409136823459E0705793
chr2136823604136823740E0705988
chr2136825166136825211E0707550
chr2136825246136825342E0707630
chr2136826478136826675E0708862
chr2136827078136827118E0709462
chr2136827516136827594E0709900
chr2136851348136851407E07033732
chr2136864737136864815E07047121
chr2136864874136865226E07047258
chr2136771522136771951E071-45665
chr2136772034136772302E071-45314
chr2136777280136777673E071-39943
chr2136778205136778245E071-39371
chr2136778490136778716E071-38900
chr2136779071136779414E071-38202
chr2136782316136782505E071-35111
chr2136783896136783986E071-33630
chr2136784672136784751E071-32865
chr2136787911136788015E071-29601
chr2136788016136788872E071-28744
chr2136806468136807174E071-10442
chr2136807561136807801E071-9815
chr2136808128136808411E071-9205
chr2136822271136822604E0714655
chr2136822833136822878E0715217
chr2136823010136823304E0715394
chr2136827078136827118E0719462
chr2136839267136839573E07121651
chr2136839896136839970E07122280
chr2136778205136778245E072-39371
chr2136778490136778716E072-38900
chr2136779071136779414E072-38202
chr2136779500136779582E072-38034
chr2136780387136780604E072-37012
chr2136782316136782505E072-35111
chr2136788016136788872E072-28744
chr2136789474136789632E072-27984
chr2136806468136807174E072-10442
chr2136807561136807801E072-9815
chr2136823010136823304E0725394
chr2136823409136823459E0725793
chr2136823604136823740E0725988
chr2136825166136825211E0727550
chr2136825246136825342E0727630
chr2136825566136826416E0727950
chr2136826478136826675E0728862
chr2136827078136827118E0729462
chr2136839267136839573E07221651
chr2136771522136771951E073-45665
chr2136772034136772302E073-45314
chr2136789474136789632E073-27984
chr2136770467136770585E074-47031
chr2136771522136771951E074-45665
chr2136772034136772302E074-45314
chr2136777280136777673E074-39943
chr2136778205136778245E074-39371
chr2136778490136778716E074-38900
chr2136779071136779414E074-38202
chr2136779500136779582E074-38034
chr2136788016136788872E074-28744
chr2136789474136789632E074-27984
chr2136806468136807174E074-10442
chr2136807561136807801E074-9815
chr2136823010136823304E0745394
chr2136825566136826416E0747950
chr2136826478136826675E0748862
chr2136839267136839573E07421651
chr2136772034136772302E081-45314
chr2136783896136783986E081-33630
chr2136784476136784526E081-33090
chr2136784672136784751E081-32865
chr2136784945136785024E081-32592
chr2136785047136785156E081-32460
chr2136823604136823740E0815988
chr2136825166136825211E0817550
chr2136825246136825342E0817630
chr2136825566136826416E0817950
chr2136771350136771413E082-46203
chr2136771522136771951E082-45665
chr2136772034136772302E082-45314
chr2136782316136782505E082-35111
chr2136825566136826416E0827950