rs2969540

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0191 (5736/29974,GnomAD)
T=0240 (7013/29118,TOPMED)
T=0268 (1342/5008,1000G)
T=0080 (309/3854,ALSPAC)
T=0079 (293/3708,TWINSUK)
chr7:155109147 (GRCh38.p7) (7q36.2)
AD
GWASdb2
1   publication(s)
See rs on genome
35 Enhancers around
65 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.155109147C>T
GRCh37.p13 chr 7NC_000007.13:g.154900857C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.576T=0.424
1000GenomesAmericanSub694C=0.760T=0.240
1000GenomesEast AsianSub1008C=0.674T=0.326
1000GenomesEuropeSub1006C=0.912T=0.088
1000GenomesGlobalStudy-wide5008C=0.732T=0.268
1000GenomesSouth AsianSub978C=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.920T=0.080
The Genome Aggregation DatabaseAfricanSub8712C=0.631T=0.369
The Genome Aggregation DatabaseAmericanSub838C=0.780T=0.220
The Genome Aggregation DatabaseEast AsianSub1618C=0.627T=0.373
The Genome Aggregation DatabaseEuropeSub18504C=0.908T=0.091
The Genome Aggregation DatabaseGlobalStudy-wide29974C=0.808T=0.191
The Genome Aggregation DatabaseOtherSub302C=0.870T=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.759T=0.240
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.921T=0.079
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
rs29695400.000485alcohol dependence20201924

eQTL of rs2969540 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 rs2969540 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 )
chr7154900961154901229E069104
chr7154901284154901404E069427
chr7154899726154899879E070-978
chr7154899923154900154E070-703
chr7154900266154900316E070-541
chr7154900363154900413E070-444
chr7154899923154900154E071-703
chr7154900266154900316E071-541
chr7154900363154900413E071-444
chr7154900646154900696E071-161
chr7154900961154901229E071104
chr7154901284154901404E071427
chr7154900363154900413E072-444
chr7154900646154900696E072-161
chr7154900961154901229E072104
chr7154901284154901404E072427
chr7154853702154853885E081-46972
chr7154854214154854449E081-46408
chr7154855590154855652E081-45205
chr7154855854154856350E081-44507
chr7154865186154865226E081-35631
chr7154865392154865543E081-35314
chr7154899923154900154E081-703
chr7154900266154900316E081-541
chr7154900363154900413E081-444
chr7154900646154900696E081-161
chr7154900961154901229E081104
chr7154901284154901404E081427
chr7154913593154913801E08112736
chr7154899923154900154E082-703
chr7154900266154900316E082-541
chr7154900363154900413E082-444
chr7154900646154900696E082-161
chr7154900961154901229E082104
chr7154901284154901404E082427






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7154861587154862305E067-38552
chr7154862322154862480E067-38377
chr7154862560154862625E067-38232
chr7154862628154862692E067-38165
chr7154862788154862870E067-37987
chr7154863203154863364E067-37493
chr7154863795154863999E067-36858
chr7154861587154862305E068-38552
chr7154862322154862480E068-38377
chr7154862560154862625E068-38232
chr7154862628154862692E068-38165
chr7154862788154862870E068-37987
chr7154863203154863364E068-37493
chr7154863795154863999E068-36858
chr7154864066154864222E068-36635
chr7154864256154864424E068-36433
chr7154861587154862305E069-38552
chr7154862322154862480E069-38377
chr7154862560154862625E069-38232
chr7154862628154862692E069-38165
chr7154862788154862870E069-37987
chr7154863203154863364E069-37493
chr7154863795154863999E069-36858
chr7154864066154864222E069-36635
chr7154861587154862305E070-38552
chr7154862322154862480E070-38377
chr7154862560154862625E070-38232
chr7154862628154862692E070-38165
chr7154862788154862870E070-37987
chr7154861587154862305E071-38552
chr7154862322154862480E071-38377
chr7154862560154862625E071-38232
chr7154862628154862692E071-38165
chr7154862788154862870E071-37987
chr7154863203154863364E071-37493
chr7154863795154863999E071-36858
chr7154864066154864222E071-36635
chr7154864256154864424E071-36433
chr7154861587154862305E072-38552
chr7154862322154862480E072-38377
chr7154862560154862625E072-38232
chr7154862628154862692E072-38165
chr7154862788154862870E072-37987
chr7154863203154863364E072-37493
chr7154863795154863999E072-36858
chr7154864066154864222E072-36635
chr7154864256154864424E072-36433
chr7154861405154861459E073-39398
chr7154861587154862305E073-38552
chr7154862322154862480E073-38377
chr7154862560154862625E073-38232
chr7154862628154862692E073-38165
chr7154862788154862870E073-37987
chr7154863203154863364E073-37493
chr7154863795154863999E073-36858
chr7154864066154864222E073-36635
chr7154864256154864424E073-36433
chr7154861587154862305E082-38552
chr7154862322154862480E082-38377
chr7154862560154862625E082-38232
chr7154862628154862692E082-38165
chr7154862788154862870E082-37987
chr7154863203154863364E082-37493
chr7154863795154863999E082-36858
chr7154864066154864222E082-36635