rs1278537

Homo sapiens
G>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0469 (14031/29872,GnomAD)
G==0454 (13219/29118,TOPMED)
T=0417 (2090/5008,1000G)
T=0460 (1774/3854,ALSPAC)
T=0472 (1752/3708,TWINSUK)
chr1:50416487 (GRCh38.p7) (1p32.3)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.50416487G>T
GRCh37.p13 chr 1NC_000001.10:g.50882159G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.341T=0.659
1000GenomesAmericanSub694G=0.660T=0.340
1000GenomesEast AsianSub1008G=0.840T=0.160
1000GenomesEuropeSub1006G=0.539T=0.461
1000GenomesGlobalStudy-wide5008G=0.583T=0.417
1000GenomesSouth AsianSub978G=0.630T=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.540T=0.460
The Genome Aggregation DatabaseAfricanSub8692G=0.354T=0.646
The Genome Aggregation DatabaseAmericanSub832G=0.700T=0.300
The Genome Aggregation DatabaseEast AsianSub1616G=0.812T=0.188
The Genome Aggregation DatabaseEuropeSub18430G=0.582T=0.417
The Genome Aggregation DatabaseGlobalStudy-wide29872G=0.530T=0.469
The Genome Aggregation DatabaseOtherSub302G=0.460T=0.540
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.454T=0.546
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.528T=0.472
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
rs12785370.00071alcohol dependence20201924

eQTL of rs1278537 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 rs1278537 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 )
chr15092737450927559E07145215
chr15083441250834602E072-47557
chr15092737450927559E07445215
chr15083441250834602E081-47557




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr15088800850889589E0675849
chr15088800850889589E0695849
chr15088424750884754E0702088
chr15088424750884754E0712088
chr15088800850889589E0725849
chr15088800850889589E0735849
chr15088800850889589E0745849
chr15088424750884754E0822088
chr15088800850889589E0825849