rs2540096

Homo sapiens
T>A / T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0305 (9133/29938,GnomAD)
C=0329 (9585/29116,TOPMED)
C=0376 (1881/5008,1000G)
C=0300 (1155/3854,ALSPAC)
C=0305 (1131/3708,TWINSUK)
chr2:59529719 (GRCh38.p7) (2p16.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.59529719T>A
GRCh38.p7 chr 2NC_000002.12:g.59529719T>C
GRCh37.p13 chr 2NC_000002.11:g.59756854T>A
GRCh37.p13 chr 2NC_000002.11:g.59756854T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.655C=0.345
1000GenomesAmericanSub694T=0.560C=0.440
1000GenomesEast AsianSub1008T=0.477C=0.523
1000GenomesEuropeSub1006T=0.700C=0.300
1000GenomesGlobalStudy-wide5008T=0.624C=0.376
1000GenomesSouth AsianSub978T=0.700C=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.700C=0.300
The Genome Aggregation DatabaseAfricanSub8718T=0.677C=0.323
The Genome Aggregation DatabaseAmericanSub836T=0.540C=0.460
The Genome Aggregation DatabaseEast AsianSub1620T=0.466C=0.534
The Genome Aggregation DatabaseEuropeSub18466T=0.730C=0.269
The Genome Aggregation DatabaseGlobalStudy-wide29938T=0.694C=0.305
The Genome Aggregation DatabaseOtherSub298T=0.700C=0.300
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.670C=0.329
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.695C=0.305
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
rs25400965.01E-05alcohol consumption23743675

eQTL of rs2540096 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 rs2540096 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.