rs4742378

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0359 (10728/29868,GnomAD)
T=0342 (9969/29118,TOPMED)
T=0452 (2264/5008,1000G)
T=0372 (1434/3854,ALSPAC)
T=0382 (1418/3708,TWINSUK)
chr9:7578222 (GRCh38.p7) (9p24.1)
AD
GWASdb2
1   publication(s)
See rs on genome
63 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.7578222C>T
GRCh37.p13 chr 9NC_000009.11:g.7578222C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.744T=0.256
1000GenomesAmericanSub694C=0.520T=0.480
1000GenomesEast AsianSub1008C=0.297T=0.703
1000GenomesEuropeSub1006C=0.628T=0.372
1000GenomesGlobalStudy-wide5008C=0.548T=0.452
1000GenomesSouth AsianSub978C=0.480T=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.628T=0.372
The Genome Aggregation DatabaseAfricanSub8682C=0.729T=0.271
The Genome Aggregation DatabaseAmericanSub832C=0.480T=0.520
The Genome Aggregation DatabaseEast AsianSub1592C=0.321T=0.679
The Genome Aggregation DatabaseEuropeSub18460C=0.634T=0.365
The Genome Aggregation DatabaseGlobalStudy-wide29868C=0.640T=0.359
The Genome Aggregation DatabaseOtherSub302C=0.640T=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.657T=0.342
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.618T=0.382
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
rs47423780.000414alcohol dependence24277619

eQTL of rs4742378 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 rs4742378 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 )
chr975430847543203E067-35019
chr975602737560323E067-17899
chr975604857560535E067-17687
chr975606927560760E067-17462
chr975607967561313E067-16909
chr975613387561436E067-16786
chr975614577562013E067-16209
chr975621037562231E067-15991
chr975422017542636E068-35586
chr975426457543079E068-35143
chr975430847543203E068-35019
chr975435667543645E068-34577
chr975606927560760E068-17462
chr975607967561313E068-16909
chr975613387561436E068-16786
chr975614577562013E068-16209
chr975422017542636E069-35586
chr975426457543079E069-35143
chr975430847543203E069-35019
chr975435667543645E069-34577
chr975607967561313E069-16909
chr975613387561436E069-16786
chr975614577562013E069-16209
chr975492037549589E070-28633
chr975422017542636E071-35586
chr975430847543203E071-35019
chr975435667543645E071-34577
chr975602737560323E071-17899
chr975604857560535E071-17687
chr975606927560760E071-17462
chr975607967561313E071-16909
chr975613387561436E071-16786
chr975614577562013E071-16209
chr975430847543203E072-35019
chr975435667543645E072-34577
chr975606927560760E072-17462
chr975613387561436E072-16786
chr975614577562013E072-16209
chr975621037562231E072-15991
chr975422017542636E074-35586
chr975435667543645E074-34577
chr975606927560760E074-17462
chr975607967561313E074-16909
chr975613387561436E074-16786
chr975614577562013E074-16209
chr975443777544484E081-33738
chr975448157544893E081-33329
chr975450207545070E081-33152
chr975453837545830E081-32392
chr975458847546032E081-32190
chr975461127546601E081-31621
chr975468567547080E081-31142
chr975789537579003E081731
chr975790537579194E081831
chr975792337579296E0811011
chr975793947579705E0811172
chr975799827580100E0811760
chr975801507580286E0811928
chr975805767580685E0812354
chr975448157544893E082-33329
chr975450207545070E082-33152
chr975453837545830E082-32392
chr975458847546032E082-32190









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr976068647606944E06828642