rs1454979

Homo sapiens
C>A / C>T
LOC105370431 : Genic Upstream Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0124 (3720/29910,GnomAD)
T=0144 (4202/29118,TOPMED)
T=0191 (955/5008,1000G)
T=0046 (176/3854,ALSPAC)
T=0042 (156/3708,TWINSUK)
chr14:30525364 (GRCh38.p7) (14q12)
AD
GWASdb2
1   publication(s)
See rs on genome
38 Enhancers around
25 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.30525364C>A
GRCh38.p7 chr 14NC_000014.9:g.30525364C>T
GRCh37.p13 chr 14NC_000014.8:g.30994570C>A
GRCh37.p13 chr 14NC_000014.8:g.30994570C>T

Gene: LOC105370431, uncharacterized LOC105370431(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370431 transcript variant X3XR_001750710.1:n.N/AGenic Upstream Transcript Variant
LOC112267868 transcript variant X1XR_943706.1:n.N/AGenic Upstream Transcript Variant
LOC112267868 transcript variant X2XR_943707.1:n.N/AGenic Upstream Transcript Variant
LOC105370431 transcript variant X4XR_943709.2:n.N/AGenic Upstream Transcript Variant
LOC112267868 transcript variant X4XR_943711.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.765T=0.235
1000GenomesAmericanSub694C=0.790T=0.210
1000GenomesEast AsianSub1008C=0.694T=0.306
1000GenomesEuropeSub1006C=0.937T=0.063
1000GenomesGlobalStudy-wide5008C=0.809T=0.191
1000GenomesSouth AsianSub978C=0.870T=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.954T=0.046
The Genome Aggregation DatabaseAfricanSub8716C=0.772T=0.228
The Genome Aggregation DatabaseAmericanSub838C=0.780T=0.220
The Genome Aggregation DatabaseEast AsianSub1604C=0.702T=0.298
The Genome Aggregation DatabaseEuropeSub18450C=0.942T=0.057
The Genome Aggregation DatabaseGlobalStudy-wide29910C=0.875T=0.124
The Genome Aggregation DatabaseOtherSub302C=0.960T=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.855T=0.144
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.958T=0.042
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
rs14549790.000285alcohol consumption (maxi-drinks)24277619

eQTL of rs1454979 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 rs1454979 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 )
chr149250224492502294E067776
chr149252403092524218E06722562
chr149252428192524367E06722813
chr149252440392524664E06722935
chr149250254492502626E0681076
chr149250277292502822E0681304
chr149250293092503019E0681462
chr149250316192503224E0681693
chr149250370792503835E0682239
chr149250773292507878E0696264
chr149250773292507878E0706264
chr149250224492502294E071776
chr149250236392502442E071895
chr149250254492502626E0711076
chr149250277292502822E0711304
chr149250293092503019E0711462
chr149250316192503224E0711693
chr149252403092524218E07122562
chr149252428192524367E07122813
chr149252440392524664E07122935
chr149252440392524664E07222935
chr149252497792525109E07223509
chr149250773292507878E0736264
chr149252403092524218E07322562
chr149252428192524367E07322813
chr149252440392524664E07322935
chr149252497792525109E07323509
chr149250773292507878E0746264
chr149252440392524664E07422935
chr149250370792503835E0812239
chr149250773292507878E0816264
chr149250224492502294E082776
chr149250236392502442E082895
chr149250254492502626E0821076
chr149250277292502822E0821304
chr149250293092503019E0821462
chr149250316192503224E0821693
chr149250773292507878E0826264










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr149250513792505373E0673669
chr149250545192507487E0673983
chr149250503192505085E0683563
chr149250513792505373E0683669
chr149250545192507487E0683983
chr149250513792505373E0693669
chr149250545192507487E0693983
chr149250503192505085E0703563
chr149250513792505373E0703669
chr149250545192507487E0703983
chr149250503192505085E0713563
chr149250513792505373E0713669
chr149250545192507487E0713983
chr149250503192505085E0723563
chr149250513792505373E0723669
chr149250545192507487E0723983
chr149250503192505085E0733563
chr149250513792505373E0733669
chr149250545192507487E0733983
chr149250513792505373E0743669
chr149250545192507487E0743983
chr149250503192505085E0813563
chr149250503192505085E0823563
chr149250513792505373E0823669
chr149250545192507487E0823983