rs4078050

Homo sapiens
G>A / G>C / G>T
LOC105379006 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0184 (5522/29938,GnomAD)
A=0223 (6506/29118,TOPMED)
A=0260 (1301/5008,1000G)
A=0053 (206/3854,ALSPAC)
A=0059 (217/3708,TWINSUK)
chr5:67640322 (GRCh38.p7) (5q13.1)
AD
GWASdb2
1   publication(s)
See rs on genome
30 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.67640322G>A
GRCh38.p7 chr 5NC_000005.10:g.67640322G>C
GRCh38.p7 chr 5NC_000005.10:g.67640322G>T
GRCh37.p13 chr 5NC_000005.9:g.66936150G>A
GRCh37.p13 chr 5NC_000005.9:g.66936150G>C
GRCh37.p13 chr 5NC_000005.9:g.66936150G>T

Gene: LOC105379006, uncharacterized LOC105379006(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105379006 transcript variant X3XR_001742690.1:n.N/AIntron Variant
LOC105379006 transcript variant X1XR_948388.2:n.N/AIntron Variant
LOC105379006 transcript variant X2XR_948389.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.541A=0.459
1000GenomesAmericanSub694G=0.830A=0.170
1000GenomesEast AsianSub1008G=0.577A=0.423
1000GenomesEuropeSub1006G=0.945A=0.055
1000GenomesGlobalStudy-wide5008G=0.740A=0.260
1000GenomesSouth AsianSub978G=0.900A=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.947A=0.053
The Genome Aggregation DatabaseAfricanSub8682G=0.595A=0.405
The Genome Aggregation DatabaseAmericanSub838G=0.850A=0.150
The Genome Aggregation DatabaseEast AsianSub1610G=0.568A=0.432
The Genome Aggregation DatabaseEuropeSub18506G=0.936A=0.063
The Genome Aggregation DatabaseGlobalStudy-wide29938G=0.815A=0.184
The Genome Aggregation DatabaseOtherSub302G=0.950A=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.776A=0.223
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.941A=0.059
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
rs40780500.000494alcohol dependence24277619

eQTL of rs4078050 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 rs4078050 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 )
chr5149341446149341886E06719700
chr5149341446149341886E06819700
chr5149341945149342022E06820199
chr5149342083149342123E06820337
chr5149341945149342022E06920199
chr5149342083149342123E06920337
chr5149342249149342330E06920503
chr5149310105149310439E070-11307
chr5149310477149310568E070-11178
chr5149316356149316518E070-5228
chr5149316549149316629E070-5117
chr5149316634149316691E070-5055
chr5149316738149316795E070-4951
chr5149316841149316885E070-4861
chr5149317034149317118E070-4628
chr5149317217149318259E070-3487
chr5149320972149321183E071-563
chr5149341446149341886E07119700
chr5149341446149341886E07219700
chr5149341446149341886E07419700
chr5149309637149310058E081-11688
chr5149316356149316518E081-5228
chr5149316549149316629E081-5117
chr5149317217149318259E081-3487
chr5149338854149339599E08117108
chr5149341945149342022E08120199
chr5149309637149310058E082-11688
chr5149341446149341886E08219700
chr5149341945149342022E08220199
chr5149342083149342123E08220337









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5149339733149340946E06717987
chr5149339733149340946E06817987
chr5149339733149340946E06917987
chr5149339733149340946E07017987
chr5149339733149340946E07117987
chr5149339733149340946E07217987
chr5149339733149340946E07317987
chr5149339733149340946E07417987
chr5149339733149340946E08117987
chr5149339733149340946E08217987