rs4970698

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0141 (4243/29946,GnomAD)
T==0121 (3538/29118,TOPMED)
T==0073 (364/5008,1000G)
T==0208 (803/3854,ALSPAC)
T==0205 (760/3708,TWINSUK)
chr1:92507376 (GRCh38.p7) (1p22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.92507376T>C
GRCh37.p13 chr 1NC_000001.10:g.92972933T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.026C=0.974
1000GenomesAmericanSub694T=0.100C=0.900
1000GenomesEast AsianSub1008T=0.025C=0.975
1000GenomesEuropeSub1006T=0.193C=0.807
1000GenomesGlobalStudy-wide5008T=0.073C=0.927
1000GenomesSouth AsianSub978T=0.040C=0.960
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.208C=0.792
The Genome Aggregation DatabaseAfricanSub8720T=0.052C=0.948
The Genome Aggregation DatabaseAmericanSub834T=0.090C=0.910
The Genome Aggregation DatabaseEast AsianSub1622T=0.035C=0.965
The Genome Aggregation DatabaseEuropeSub18468T=0.196C=0.803
The Genome Aggregation DatabaseGlobalStudy-wide29946T=0.141C=0.858
The Genome Aggregation DatabaseOtherSub302T=0.090C=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.121C=0.878
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.205C=0.795
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs49706983.47E-05alcohol consumption23953852

eQTL of rs4970698 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:92972933EVI5ENSG00000067208.10T>C3.7726e-3-285028Hippocampus

meQTL of rs4970698 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 )
chr19301725693017506E07144323
chr19301725693017506E08244323


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr19295211692952373E067-20560
chr19295211692952373E068-20560
chr19295211692952373E069-20560
chr19295237592952837E069-20096
chr19295211692952373E071-20560
chr19295237592952837E071-20096
chr19295211692952373E072-20560
chr19294757092952045E073-20888
chr19295211692952373E073-20560
chr19295211692952373E074-20560
chr19295237592952837E074-20096