rs7452689

Homo sapiens
G>A / G>T
LOC105377916 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0143 (4286/29836,GnomAD)
T=0125 (3667/29118,TOPMED)
T=0230 (1151/5008,1000G)
T=0138 (530/3854,ALSPAC)
T=0141 (523/3708,TWINSUK)
chr6:103569094 (GRCh38.p7) (6q16.3)
AD
GWASdb2
1   publication(s)
See rs on genome
7 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.103569094G>A
GRCh38.p7 chr 6NC_000006.12:g.103569094G>T
GRCh37.p13 chr 6NC_000006.11:g.104016969G>A
GRCh37.p13 chr 6NC_000006.11:g.104016969G>T

Gene: LOC105377916, uncharacterized LOC105377916(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105377916 transcript variant X3XR_001743889.1:n.N/AIntron Variant
LOC105377916 transcript variant X1XR_942824.2:n.N/AGenic Downstream Transcript Variant
LOC105377916 transcript variant X2XR_942825.2:n.N/AGenic Downstream Transcript Variant
LOC105377916 transcript variant X4XR_942826.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.887T=0.113
1000GenomesAmericanSub694G=0.700T=0.300
1000GenomesEast AsianSub1008G=0.691T=0.309
1000GenomesEuropeSub1006G=0.848T=0.152
1000GenomesGlobalStudy-wide5008G=0.770T=0.230
1000GenomesSouth AsianSub978G=0.660T=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.862T=0.138
The Genome Aggregation DatabaseAfricanSub8708G=0.899T=0.101
The Genome Aggregation DatabaseAmericanSub828G=0.710T=0.290
The Genome Aggregation DatabaseEast AsianSub1592G=0.753T=0.247
The Genome Aggregation DatabaseEuropeSub18406G=0.851T=0.148
The Genome Aggregation DatabaseGlobalStudy-wide29836G=0.856T=0.143
The Genome Aggregation DatabaseOtherSub302G=0.860T=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.874T=0.125
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.859T=0.141
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
rs74526890.000901alcohol consumption (maxi-drinks)24277619

eQTL of rs7452689 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 rs7452689 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 )
chr66428097464281053E06840045
chr66428635364286524E07045424
chr66428635364286524E07145424
chr66426311964263520E08122190
chr66426394364264222E08123014
chr66428635364286524E08145424
chr66428684964286961E08145920




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr66428120864284581E06740279
chr66428120864284581E06840279
chr66428120864284581E06940279
chr66428120864284581E07040279
chr66428120864284581E07140279
chr66428120864284581E07240279
chr66428120864284581E07340279
chr66428120864284581E07440279
chr66428120864284581E08140279
chr66428120864284581E08240279