rs6603981

Homo sapiens
C>T
EVI5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0148 (4448/29958,GnomAD)
C==0133 (3889/29118,TOPMED)
C==0080 (401/5008,1000G)
C==0209 (805/3854,ALSPAC)
C==0206 (763/3708,TWINSUK)
chr1:92528250 (GRCh38.p7) (1p22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.92528250C>T
GRCh37.p13 chr 1NC_000001.10:g.92993807C>T

Gene: EVI5, ecotropic viral integration site 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EVI5 transcript variant 1NM_001308248.1:c.N/AIntron Variant
EVI5 transcript variant 2NM_005665.5:c.N/AIntron Variant
EVI5 transcript variant X1XM_017002269.1:c.N/AIntron Variant
EVI5 transcript variant X2XM_017002270.1:c.N/AIntron Variant
EVI5 transcript variant X3XM_017002271.1:c.N/AIntron Variant
EVI5 transcript variant X4XM_017002272.1:c.N/AIntron Variant
EVI5 transcript variant X5XM_017002273.1:c.N/AIntron Variant
EVI5 transcript variant X6XM_017002274.1:c.N/AIntron Variant
EVI5 transcript variant X7XM_017002275.1:c.N/AIntron Variant
EVI5 transcript variant X8XM_017002276.1:c.N/AIntron Variant
EVI5 transcript variant X10XM_017002277.1:c.N/AIntron Variant
EVI5 transcript variant X11XM_017002278.1:c.N/AIntron Variant
EVI5 transcript variant X12XM_017002279.1:c.N/AIntron Variant
EVI5 transcript variant X12XM_017002280.1:c.N/AIntron Variant
EVI5 transcript variant X13XM_017002281.1:c.N/AIntron Variant
EVI5 transcript variant X16XM_017002282.1:c.N/AIntron Variant
EVI5 transcript variant X17XM_017002283.1:c.N/AIntron Variant
EVI5 transcript variant X16XM_017002284.1:c.N/AIntron Variant
EVI5 transcript variant X17XM_017002285.1:c.N/AIntron Variant
EVI5 transcript variant X18XM_017002286.1:c.N/AIntron Variant
EVI5 transcript variant X19XM_017002287.1:c.N/AIntron Variant
EVI5 transcript variant X21XM_017002288.1:c.N/AIntron Variant
EVI5 transcript variant X22XR_001737401.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.051T=0.949
1000GenomesAmericanSub694C=0.110T=0.890
1000GenomesEast AsianSub1008C=0.025T=0.975
1000GenomesEuropeSub1006C=0.193T=0.807
1000GenomesGlobalStudy-wide5008C=0.080T=0.920
1000GenomesSouth AsianSub978C=0.040T=0.960
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.209T=0.791
The Genome Aggregation DatabaseAfricanSub8732C=0.075T=0.925
The Genome Aggregation DatabaseAmericanSub838C=0.090T=0.910
The Genome Aggregation DatabaseEast AsianSub1620C=0.035T=0.965
The Genome Aggregation DatabaseEuropeSub18466C=0.196T=0.803
The Genome Aggregation DatabaseGlobalStudy-wide29958C=0.148T=0.851
The Genome Aggregation DatabaseOtherSub302C=0.090T=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.133T=0.866
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.206T=0.794
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs66039815.2E-05alcohol consumption23953852

eQTL of rs6603981 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:92993807EVI5ENSG00000067208.10C>T3.7726e-3-264154Hippocampus

meQTL of rs6603981 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 )
chr19304293393043029E06949126
chr19304316693043387E06949359
chr19301725693017506E07123449
chr19301725693017506E08223449



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr19295211692952373E067-41434
chr19295211692952373E068-41434
chr19295211692952373E069-41434
chr19295237592952837E069-40970
chr19295211692952373E071-41434
chr19295237592952837E071-40970
chr19295211692952373E072-41434
chr19294757092952045E073-41762
chr19295211692952373E073-41434
chr19295211692952373E074-41434
chr19295237592952837E074-40970