rs2540087

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0306 (9162/29934,GnomAD)
A=0329 (9582/29116,TOPMED)
A=0377 (1890/5008,1000G)
A=0305 (1174/3854,ALSPAC)
A=0311 (1153/3708,TWINSUK)
chr2:59535459 (GRCh38.p7) (2p16.1)
AD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.59535459C>A
GRCh37.p13 chr 2NC_000002.11:g.59762594C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.651A=0.349
1000GenomesAmericanSub694C=0.600A=0.400
1000GenomesEast AsianSub1008C=0.483A=0.517
1000GenomesEuropeSub1006C=0.693A=0.307
1000GenomesGlobalStudy-wide5008C=0.623A=0.377
1000GenomesSouth AsianSub978C=0.670A=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.695A=0.305
The Genome Aggregation DatabaseAfricanSub8708C=0.674A=0.326
The Genome Aggregation DatabaseAmericanSub836C=0.580A=0.420
The Genome Aggregation DatabaseEast AsianSub1614C=0.476A=0.524
The Genome Aggregation DatabaseEuropeSub18474C=0.727A=0.272
The Genome Aggregation DatabaseGlobalStudy-wide29934C=0.693A=0.306
The Genome Aggregation DatabaseOtherSub302C=0.680A=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.670A=0.329
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.689A=0.311
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
rs25400875.34E-05alcohol consumption23743675

eQTL of rs2540087 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 rs2540087 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 )
chr25981223659812346E07049642
chr25979357059793733E08130976
chr25979377559794244E08131181
chr25979429459794429E08131700
chr25979448259795096E08131888
chr25979531859795414E08132724
chr25979556659795892E08132972
chr25979831859798751E08135724
chr25979946259799668E08136868
chr25979357059793733E08230976
chr25979377559794244E08231181
chr25979429459794429E08231700
chr25979448259795096E08231888
chr25979531859795414E08232724
chr25981223659812346E08249642