rs13375139

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0269 (8049/29918,GnomAD)
T=0298 (8677/29118,TOPMED)
T=0372 (1861/5008,1000G)
T=0189 (729/3854,ALSPAC)
T=0176 (654/3708,TWINSUK)
chr1:30218866 (GRCh38.p7) (1p35.2)
AD
GWASdb2
1   publication(s)
See rs on genome
21 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.30218866C>T
GRCh37.p13 chr 1NC_000001.10:g.30691713C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.561T=0.439
1000GenomesAmericanSub694C=0.590T=0.410
1000GenomesEast AsianSub1008C=0.566T=0.434
1000GenomesEuropeSub1006C=0.816T=0.184
1000GenomesGlobalStudy-wide5008C=0.628T=0.372
1000GenomesSouth AsianSub978C=0.620T=0.380
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.811T=0.189
The Genome Aggregation DatabaseAfricanSub8712C=0.593T=0.407
The Genome Aggregation DatabaseAmericanSub838C=0.640T=0.360
The Genome Aggregation DatabaseEast AsianSub1606C=0.627T=0.373
The Genome Aggregation DatabaseEuropeSub18460C=0.808T=0.191
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.731T=0.269
The Genome Aggregation DatabaseOtherSub302C=0.770T=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.702T=0.298
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.824T=0.176
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
rs133751396.94E-05alcohol consumption23743675

eQTL of rs13375139 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 rs13375139 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 )
chr13072340830723558E07031695
chr13072363930723689E07031926
chr13072375030723812E07032037
chr13072421130724605E07032498
chr13070680030706898E07115087
chr13070696630707302E07115253
chr13064455330644603E081-47110
chr13064476030645077E081-46636
chr13064537130645425E081-46288
chr13072340830723558E08131695
chr13072363930723689E08131926
chr13072375030723812E08132037
chr13072421130724605E08132498
chr13072468930724743E08132976
chr13072824530728406E08136532
chr13072854230728916E08136829
chr13072993330729983E08138220
chr13072340830723558E08231695
chr13072363930723689E08231926
chr13072375030723812E08232037
chr13072421130724605E08232498