rs12857116

Homo sapiens
T>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0118 (3548/29928,GnomAD)
G=0144 (4195/29116,TOPMED)
G=0148 (743/5008,1000G)
G=0061 (236/3854,ALSPAC)
G=0070 (260/3708,TWINSUK)
chr13:55220980 (GRCh38.p7) (13q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.55220980T>G
GRCh37.p13 chr 13NC_000013.10:g.55795115T>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.749G=0.251
1000GenomesAmericanSub694T=0.750G=0.250
1000GenomesEast AsianSub1008T=0.904G=0.096
1000GenomesEuropeSub1006T=0.950G=0.050
1000GenomesGlobalStudy-wide5008T=0.852G=0.148
1000GenomesSouth AsianSub978T=0.900G=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.939G=0.061
The Genome Aggregation DatabaseAfricanSub8714T=0.778G=0.222
The Genome Aggregation DatabaseAmericanSub836T=0.750G=0.250
The Genome Aggregation DatabaseEast AsianSub1604T=0.906G=0.094
The Genome Aggregation DatabaseEuropeSub18472T=0.932G=0.067
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.881G=0.118
The Genome Aggregation DatabaseOtherSub302T=0.970G=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.855G=0.144
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.930G=0.070
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs128571160.000761alcohol dependence20201924

eQTL of rs12857116 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 rs12857116 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 )
chr135578911155789268E070-5847
chr135579149355791643E070-3472