rs7919710

Homo sapiens
G>A
ACSL5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0354 (10623/29944,GnomAD)
A=0365 (10639/29118,TOPMED)
A=0359 (1799/5008,1000G)
A=0273 (1054/3854,ALSPAC)
A=0276 (1022/3708,TWINSUK)
chr10:112409794 (GRCh38.p7) (10q25.2)
AD
GWASdb2
1   publication(s)
See rs on genome
27 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.112409794G>A
GRCh37.p13 chr 10NC_000010.10:g.114169552G>A

Gene: ACSL5, acyl-CoA synthetase long-chain family member 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ACSL5 transcript variant 1NM_016234.3:c.N/AIntron Variant
ACSL5 transcript variant 2NM_203379.1:c.N/AIntron Variant
ACSL5 transcript variant 3NM_203380.1:c.N/AIntron Variant
ACSL5 transcript variant X1XM_017016324.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.491A=0.509
1000GenomesAmericanSub694G=0.710A=0.290
1000GenomesEast AsianSub1008G=0.675A=0.325
1000GenomesEuropeSub1006G=0.705A=0.295
1000GenomesGlobalStudy-wide5008G=0.641A=0.359
1000GenomesSouth AsianSub978G=0.690A=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.727A=0.273
The Genome Aggregation DatabaseAfricanSub8710G=0.528A=0.472
The Genome Aggregation DatabaseAmericanSub838G=0.780A=0.220
The Genome Aggregation DatabaseEast AsianSub1618G=0.651A=0.349
The Genome Aggregation DatabaseEuropeSub18476G=0.695A=0.304
The Genome Aggregation DatabaseGlobalStudy-wide29944G=0.645A=0.354
The Genome Aggregation DatabaseOtherSub302G=0.560A=0.440
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.634A=0.365
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.724A=0.276
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
rs79197100.000616alcohol consumption (maxi-drinks)24277619

eQTL of rs7919710 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr10:114169552RP11-324O2.6ENSG00000270599.1G>A6.1477e-4-10213Cerebellar_Hemisphere

meQTL of rs7919710 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 )
chr10114205161114205253E06735609
chr10114205322114205376E06735770
chr10114208687114208932E06739135
chr10114179943114180081E06910391
chr10114180168114180330E06910616
chr10114179551114179784E0709999
chr10114179791114179885E07010239
chr10114179943114180081E07010391
chr10114205161114205253E07035609
chr10114205322114205376E07035770
chr10114121664114122648E071-46904
chr10114205161114205253E07135609
chr10114205322114205376E07135770
chr10114208687114208932E07139135
chr10114179791114179885E07210239
chr10114179943114180081E07210391
chr10114205161114205253E07235609
chr10114205322114205376E07235770
chr10114179791114179885E07310239
chr10114179943114180081E07310391
chr10114205161114205253E07335609
chr10114205322114205376E07335770
chr10114205161114205253E07435609
chr10114205322114205376E07435770
chr10114208687114208932E07439135
chr10114205161114205253E08235609
chr10114205322114205376E08235770








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr10114135384114136707E067-32845
chr10114205717114207722E06736165
chr10114135384114136707E068-32845
chr10114205717114207722E06836165
chr10114135384114136707E069-32845
chr10114205717114207722E06936165
chr10114205717114207722E07036165
chr10114135384114136707E071-32845
chr10114205717114207722E07136165
chr10114135384114136707E072-32845
chr10114205717114207722E07236165
chr10114205717114207722E07336165
chr10114135384114136707E074-32845
chr10114205717114207722E07436165
chr10114205717114207722E08136165
chr10114205717114207722E08236165