rs4699710

Homo sapiens
C>T
ADH4 : Intron Variant
LOC100507053 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0256 (7660/29922,GnomAD)
C==0243 (7087/29118,TOPMED)
C==0153 (766/5008,1000G)
C==0305 (1174/3854,ALSPAC)
C==0314 (1165/3708,TWINSUK)
chr4:99130668 (GRCh38.p7) (4q23)
AD
GWASCatalog
2   publication(s)
See rs on genome
7 Enhancers around
37 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.99130668C>T
GRCh37.p13 chr 4NC_000004.11:g.100051819C>T

Gene: ADH4, alcohol dehydrogenase 4 (class II), pi polypeptide(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ADH4 transcript variant 3NM_000670.4:c.N/AIntron Variant
ADH4 transcript variant 1NM_001306171.1:c.N/AIntron Variant
ADH4 transcript variant 2NM_001306172.1:c.N/AIntron Variant
ADH4 transcript variant X1XM_017007713.1:c.N/AIntron Variant
ADH4 transcript variant X2XM_017007714.1:c.N/AIntron Variant
ADH4 transcript variant X3XM_017007715.1:c.N/AIntron Variant

Gene: LOC100507053, uncharacterized LOC100507053(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC100507053 transcriptNR_037884.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.139T=0.861
1000GenomesAmericanSub694C=0.230T=0.770
1000GenomesEast AsianSub1008C=0.002T=0.998
1000GenomesEuropeSub1006C=0.303T=0.697
1000GenomesGlobalStudy-wide5008C=0.153T=0.847
1000GenomesSouth AsianSub978C=0.120T=0.880
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.305T=0.695
The Genome Aggregation DatabaseAfricanSub8718C=0.175T=0.825
The Genome Aggregation DatabaseAmericanSub838C=0.250T=0.750
The Genome Aggregation DatabaseEast AsianSub1620C=0.002T=0.998
The Genome Aggregation DatabaseEuropeSub18444C=0.315T=0.684
The Genome Aggregation DatabaseGlobalStudy-wide29922C=0.256T=0.744
The Genome Aggregation DatabaseOtherSub302C=0.310T=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.243T=0.756
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.314T=0.686
PMID Title Author Journal
24166409Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.Gelernter JMol Psychiatry
21940907Joint effects of alcohol consumption and polymorphisms in alcohol and oxidative stress metabolism genes on risk of head and neck cancer.Hakenewerth AMCancer Epidemiol Biomarkers Prev

P-Value

SNP ID p-value Traits Study
rs46997106E-06alcohol dependence24166409

eQTL of rs4699710 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 rs4699710 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 )
chr4100006643100006704E070-45115
chr4100006873100006947E070-44872
chr4100012091100012363E071-39456
chr4100006873100006947E081-44872
chr4100007948100008019E081-43800
chr4100006643100006704E082-45115
chr4100006873100006947E082-44872




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4100008829100008950E067-42869
chr4100009042100010625E067-41194
chr4100010636100011572E067-40247
chr4100008829100008950E068-42869
chr4100009042100010625E068-41194
chr4100010636100011572E068-40247
chr4100008645100008721E069-43098
chr4100008829100008950E069-42869
chr4100009042100010625E069-41194
chr4100010636100011572E069-40247
chr4100008158100008256E070-43563
chr4100008370100008613E070-43206
chr4100008645100008721E070-43098
chr4100008829100008950E070-42869
chr4100009042100010625E070-41194
chr4100010636100011572E070-40247
chr4100009042100010625E071-41194
chr4100010636100011572E071-40247
chr4100008829100008950E072-42869
chr4100009042100010625E072-41194
chr4100010636100011572E072-40247
chr4100008829100008950E073-42869
chr4100009042100010625E073-41194
chr4100010636100011572E073-40247
chr4100009042100010625E074-41194
chr4100010636100011572E074-40247
chr4100008645100008721E081-43098
chr4100008829100008950E081-42869
chr4100009042100010625E081-41194
chr4100010636100011572E081-40247
chr4100007472100007769E082-44050
chr4100008158100008256E082-43563
chr4100008370100008613E082-43206
chr4100008645100008721E082-43098
chr4100008829100008950E082-42869
chr4100009042100010625E082-41194
chr4100010636100011572E082-40247