rs16960370

Homo sapiens
A>G
LOC105370765 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0456 (13661/29924,GnomAD)
G=0417 (12167/29118,TOPMED)
G=0429 (2149/5008,1000G)
G=0496 (1912/3854,ALSPAC)
A==0492 (1824/3708,TWINSUK)
chr15:35103523 (GRCh38.p7) (15q14)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.35103523A>G
GRCh37.p13 chr 15NC_000015.9:g.35395724A>G

Gene: LOC105370765, uncharacterized LOC105370765(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC105370765 transcriptXR_932103.2:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.684G=0.316
1000GenomesAmericanSub694A=0.550G=0.450
1000GenomesEast AsianSub1008A=0.602G=0.398
1000GenomesEuropeSub1006A=0.471G=0.529
1000GenomesGlobalStudy-wide5008A=0.571G=0.429
1000GenomesSouth AsianSub978A=0.500G=0.500
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.504G=0.496
The Genome Aggregation DatabaseAfricanSub8712A=0.666G=0.334
The Genome Aggregation DatabaseAmericanSub836A=0.560G=0.440
The Genome Aggregation DatabaseEast AsianSub1620A=0.585G=0.415
The Genome Aggregation DatabaseEuropeSub18456A=0.481G=0.519
The Genome Aggregation DatabaseGlobalStudy-wide29924A=0.543G=0.456
The Genome Aggregation DatabaseOtherSub300A=0.570G=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.582G=0.417
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.492G=0.508
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs169603700.000917alcohol consumption (maxi-drinks)24277619

eQTL of rs16960370 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 rs16960370 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 )
chr153541119435411451E06815470
chr153541176535411846E06816041
chr153541189835412072E06816174
chr153543474235434840E06839018
chr153543486635435227E06839142
chr153543739735437445E06941673
chr153543747135437749E06941747
chr153543777235437856E06942048
chr153540747835407646E07011754
chr153540776635408144E07012042
chr153540950435409554E07013780
chr153536115935361588E071-34136
chr153536190435361948E071-33776
chr153543747135437749E07141747
chr153543777235437856E07142048
chr153544008935440206E07144365




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr153537075235371116E072-24608