rs4694155

Homo sapiens
T>G
COX18 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0457 (13669/29900,GnomAD)
G=0450 (13103/29118,TOPMED)
G=0455 (2281/5008,1000G)
G=0419 (1616/3854,ALSPAC)
G=0421 (1562/3708,TWINSUK)
chr4:73065809 (GRCh38.p7) (4q13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
18 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.73065809T>G
GRCh37.p13 chr 4NC_000004.11:g.73931526T>G

Gene: COX18, COX18 cytochrome c oxidase assembly factor(minus strand)

Molecule type Change Amino acid[Codon] SO Term
COX18 transcript variant 1NM_001297732.1:c.N/AIntron Variant
COX18 transcript variant 3NM_001297733.1:c.N/AIntron Variant
COX18 transcript variant 4NM_001300729.1:c.N/AIntron Variant
COX18 transcript variant 2NM_173827.3:c.N/AIntron Variant
COX18 transcript variant X1XM_005265680.4:c.N/AIntron Variant
COX18 transcript variant X4XM_011531878.2:c.N/AIntron Variant
COX18 transcript variant X2XM_017008045.1:c.N/AIntron Variant
COX18 transcript variant X3XR_001741209.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.508G=0.492
1000GenomesAmericanSub694T=0.450G=0.550
1000GenomesEast AsianSub1008T=0.520G=0.480
1000GenomesEuropeSub1006T=0.577G=0.423
1000GenomesGlobalStudy-wide5008T=0.545G=0.455
1000GenomesSouth AsianSub978T=0.650G=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.581G=0.419
The Genome Aggregation DatabaseAfricanSub8698T=0.533G=0.467
The Genome Aggregation DatabaseAmericanSub836T=0.470G=0.530
The Genome Aggregation DatabaseEast AsianSub1602T=0.491G=0.509
The Genome Aggregation DatabaseEuropeSub18462T=0.553G=0.446
The Genome Aggregation DatabaseGlobalStudy-wide29900T=0.542G=0.457
The Genome Aggregation DatabaseOtherSub302T=0.640G=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.550G=0.450
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.579G=0.421
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs46941550.000526alcohol dependence20201924

eQTL of rs4694155 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 rs4694155 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 )
chr47392062473920668E067-10858
chr47392100973921308E067-10218
chr47393274773933131E0671221
chr47396386973964024E06732343
chr47392100973921308E068-10218
chr47392062473920668E069-10858
chr47396386973964024E06932343
chr47392062473920668E071-10858
chr47394677373946847E07115247
chr47392062473920668E072-10858
chr47392100973921308E072-10218
chr47394677373946847E07215247
chr47396386973964024E07232343
chr47391984773920023E074-11503
chr47392062473920668E074-10858
chr47392100973921308E074-10218
chr47396386973964024E07432343
chr47393274773933131E0821221







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr47393372273936329E0672196
chr47393372273936329E0682196
chr47393372273936329E0692196
chr47393372273936329E0702196
chr47393372273936329E0712196
chr47393372273936329E0722196
chr47393372273936329E0732196
chr47393372273936329E0742196
chr47393372273936329E0822196