rs56093216

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0301 (9027/29924,GnomAD)
C=0326 (9496/29116,TOPMED)
C=0371 (1859/5008,1000G)
C=0291 (1120/3854,ALSPAC)
C=0301 (1115/3708,TWINSUK)
chr2:59526837 (GRCh38.p7) (2p16.1)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.59526837T>C
GRCh37.p13 chr 2NC_000002.11:g.59753972T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.651C=0.349
1000GenomesAmericanSub694T=0.570C=0.430
1000GenomesEast AsianSub1008T=0.484C=0.516
1000GenomesEuropeSub1006T=0.710C=0.290
1000GenomesGlobalStudy-wide5008T=0.629C=0.371
1000GenomesSouth AsianSub978T=0.710C=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.709C=0.291
The Genome Aggregation DatabaseAfricanSub8706T=0.675C=0.325
The Genome Aggregation DatabaseAmericanSub836T=0.550C=0.450
The Genome Aggregation DatabaseEast AsianSub1614T=0.475C=0.525
The Genome Aggregation DatabaseEuropeSub18466T=0.735C=0.264
The Genome Aggregation DatabaseGlobalStudy-wide29924T=0.698C=0.301
The Genome Aggregation DatabaseOtherSub302T=0.700C=0.300
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.673C=0.326
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.699C=0.301
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
rs560932166.78E-05alcohol consumption23743675

eQTL of rs56093216 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 rs56093216 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 )
chr25979357059793733E08139598
chr25979377559794244E08139803
chr25979429459794429E08140322
chr25979448259795096E08140510
chr25979531859795414E08141346
chr25979556659795892E08141594
chr25979831859798751E08144346
chr25979946259799668E08145490
chr25979357059793733E08239598
chr25979377559794244E08239803
chr25979429459794429E08240322
chr25979448259795096E08240510
chr25979531859795414E08241346