rs1440620

Homo sapiens
T>C
LOC105372911 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0297 (8889/29922,GnomAD)
C=0235 (6868/29116,TOPMED)
C=0273 (1368/5008,1000G)
C=0345 (1330/3854,ALSPAC)
C=0343 (1270/3708,TWINSUK)
chr1:214088007 (GRCh38.p7) (1q32.3)
AD
GWASdb2
1   publication(s)
See rs on genome
24 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.214088007T>C
GRCh37.p13 chr 1NC_000001.10:g.214261350T>C

Gene: LOC105372911, uncharacterized LOC105372911(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105372911 transcriptXR_922584.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.915C=0.085
1000GenomesAmericanSub694T=0.750C=0.250
1000GenomesEast AsianSub1008T=0.613C=0.387
1000GenomesEuropeSub1006T=0.662C=0.338
1000GenomesGlobalStudy-wide5008T=0.727C=0.273
1000GenomesSouth AsianSub978T=0.640C=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.655C=0.345
The Genome Aggregation DatabaseAfricanSub8726T=0.872C=0.128
The Genome Aggregation DatabaseAmericanSub836T=0.690C=0.310
The Genome Aggregation DatabaseEast AsianSub1616T=0.611C=0.389
The Genome Aggregation DatabaseEuropeSub18446T=0.632C=0.368
The Genome Aggregation DatabaseGlobalStudy-wide29922T=0.702C=0.297
The Genome Aggregation DatabaseOtherSub298T=0.660C=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.764C=0.235
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.657C=0.343
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
rs14406200.000998alcohol dependence24277619

eQTL of rs1440620 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 rs1440620 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 )
chr1214250074214250334E067-11016
chr1214250355214250495E067-10855
chr1214281159214281713E06819809
chr1214213098214213198E069-48152
chr1214250074214250334E069-11016
chr1214250355214250495E069-10855
chr1214249277214249317E070-12033
chr1214249426214249480E070-11870
chr1214249596214249645E070-11705
chr1214250074214250334E070-11016
chr1214281159214281713E07019809
chr1214283700214283876E07022350
chr1214283978214284197E07022628
chr1214284304214284778E07022954
chr1214284844214284894E07023494
chr1214284989214285458E07023639
chr1214281159214281713E07119809
chr1214296402214297012E07135052
chr1214249596214249645E072-11705
chr1214250074214250334E072-11016
chr1214296402214297012E07235052
chr1214249426214249480E081-11870
chr1214249596214249645E081-11705
chr1214250074214250334E081-11016







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1214280751214280805E06819401
chr1214280828214281113E06819478
chr1214280751214280805E07219401
chr1214280828214281113E07219478
chr1214280751214280805E07419401
chr1214280828214281113E07419478