rs10864971

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0278 (8327/29942,GnomAD)
T=0261 (7605/29116,TOPMED)
T=0287 (1435/5008,1000G)
T=0361 (1392/3854,ALSPAC)
T=0355 (1318/3708,TWINSUK)
chr2:118243076 (GRCh38.p7) (2q14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.118243076C>T
GRCh37.p13 chr 2NC_000002.11:g.119000652C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.909T=0.091
1000GenomesAmericanSub694C=0.730T=0.270
1000GenomesEast AsianSub1008C=0.598T=0.402
1000GenomesEuropeSub1006C=0.664T=0.336
1000GenomesGlobalStudy-wide5008C=0.713T=0.287
1000GenomesSouth AsianSub978C=0.610T=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.639T=0.361
The Genome Aggregation DatabaseAfricanSub8718C=0.878T=0.122
The Genome Aggregation DatabaseAmericanSub838C=0.780T=0.220
The Genome Aggregation DatabaseEast AsianSub1614C=0.615T=0.385
The Genome Aggregation DatabaseEuropeSub18472C=0.656T=0.343
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.721T=0.278
The Genome Aggregation DatabaseOtherSub300C=0.620T=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.738T=0.261
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.645T=0.355
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs108649718.6E-05alcoholism (heaviness of drinking)21529783

eQTL of rs10864971 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 rs10864971 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 )
chr2118979589118979982E070-20670
chr2118980026118980148E070-20504
chr2118980252118980323E070-20329
chr2118980356118980492E070-20160
chr2118980497118980659E070-19993
chr2119021169119021248E07020517
chr2119021959119022083E07021307
chr2118979403118979503E071-21149
chr2119028022119028095E08127370



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2118982167118982404E082-18248