rs860085

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
A==0150 (4505/29970,GnomAD)
A==0121 (3542/29118,TOPMED)
A==0206 (1030/5008,1000G)
A==0146 (562/3854,ALSPAC)
A==0151 (559/3708,TWINSUK)
chr5:5125220 (GRCh38.p7) (5p15.32)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
24 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.5125220A>C
GRCh37.p13 chr 5NC_000005.9:g.5125333A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.051C=0.949
1000GenomesAmericanSub694A=0.180C=0.820
1000GenomesEast AsianSub1008A=0.562C=0.438
1000GenomesEuropeSub1006A=0.157C=0.843
1000GenomesGlobalStudy-wide5008A=0.206C=0.794
1000GenomesSouth AsianSub978A=0.120C=0.880
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.146C=0.854
The Genome Aggregation DatabaseAfricanSub8724A=0.081C=0.919
The Genome Aggregation DatabaseAmericanSub838A=0.230C=0.770
The Genome Aggregation DatabaseEast AsianSub1620A=0.512C=0.488
The Genome Aggregation DatabaseEuropeSub18488A=0.146C=0.853
The Genome Aggregation DatabaseGlobalStudy-wide29970A=0.150C=0.849
The Genome Aggregation DatabaseOtherSub300A=0.210C=0.790
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.121C=0.878
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.151C=0.849
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs8600850.000103alcohol consumption23743675

eQTL of rs860085 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 rs860085 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 )
chr551423025142348E08216969
chr551423585142522E08217025

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr551397345141096E06714401
chr551411475141237E06715814
chr551412925141449E06715959
chr551414815141534E06716148
chr551397345141096E06814401
chr551411475141237E06815814
chr551412925141449E06815959
chr551414815141534E06816148
chr551394135139564E06914080
chr551397345141096E06914401
chr551411475141237E06915814
chr551412925141449E06915959
chr551397345141096E07114401
chr551412925141449E07115959
chr551414815141534E07116148
chr551397345141096E07214401
chr551411475141237E07215814
chr551412925141449E07215959
chr551397345141096E07314401
chr551411475141237E07415814
chr551412925141449E07415959
chr551412925141449E08115959
chr551414815141534E08116148
chr551397345141096E08214401