rs157113

Homo sapiens
T>C
LOC105376085 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0037 (1120/29932,GnomAD)
T==0035 (1046/29118,TOPMED)
T==0041 (203/5008,1000G)
T==0023 (88/3854,ALSPAC)
T==0025 (94/3708,TWINSUK)
chr9:73572623 (GRCh38.p7) (9q21.13)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.73572623T>C
GRCh37.p13 chr 9NC_000009.11:g.76187539T>C

Gene: LOC105376085, uncharacterized LOC105376085(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC105376085 transcriptXR_929943.2:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.071C=0.929
1000GenomesAmericanSub694T=0.020C=0.980
1000GenomesEast AsianSub1008T=0.004C=0.996
1000GenomesEuropeSub1006T=0.037C=0.963
1000GenomesGlobalStudy-wide5008T=0.041C=0.959
1000GenomesSouth AsianSub978T=0.050C=0.950
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.023C=0.977
The Genome Aggregation DatabaseAfricanSub8728T=0.058C=0.942
The Genome Aggregation DatabaseAmericanSub836T=0.030C=0.970
The Genome Aggregation DatabaseEast AsianSub1594T=0.009C=0.991
The Genome Aggregation DatabaseEuropeSub18472T=0.030C=0.969
The Genome Aggregation DatabaseGlobalStudy-wide29932T=0.037C=0.962
The Genome Aggregation DatabaseOtherSub302T=0.060C=0.940
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.035C=0.964
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.025C=0.975
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
rs1571130.00034alcohol dependence20201924

eQTL of rs157113 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 rs157113 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 )
chr97617996176180521E068-7018
chr97618062376181138E068-6401
chr97616382776163912E069-23627
chr97617996176180521E069-7018
chr97619256176192664E0705022
chr97619287476193002E0705335
chr97619349776193612E0705958
chr97619366976193807E0706130
chr97619382876193888E0706289
chr97617996176180521E071-7018
chr97618062376181138E071-6401
chr97618062376181138E072-6401
chr97618867976188784E0811140
chr97619256176192664E0815022
chr97618821176188507E082672
chr97619037376190745E0822834