rs10782922

Homo sapiens
G>A
EVI5 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0147 (4420/29952,GnomAD)
G==0130 (3805/29118,TOPMED)
G==0080 (399/5008,1000G)
G==0209 (804/3854,ALSPAC)
G==0206 (764/3708,TWINSUK)
chr1:92509038 (GRCh38.p7) (1p22.1)
AD
GWASdb2
2   publication(s)
See rs on genome
2 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.92509038G>A
GRCh37.p13 chr 1NC_000001.10:g.92974595G>A

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/A3 Prime UTR Variant
EVI5 transcript variant 2NM_005665.5:c.N/A3 Prime UTR Variant
EVI5 transcript variant X4XM_017002272.1:c.N/A3 Prime UTR Variant
EVI5 transcript variant X1XM_017002269.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X2XM_017002270.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X3XM_017002271.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X5XM_017002273.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X6XM_017002274.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X7XM_017002275.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X8XM_017002276.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X10XM_017002277.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X11XM_017002278.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X12XM_017002279.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X12XM_017002280.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X13XM_017002281.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X16XM_017002282.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X17XM_017002283.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X16XM_017002284.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X17XM_017002285.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X18XM_017002286.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X19XM_017002287.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X21XM_017002288.1:c.N/AGenic Downstream Transcript Variant
EVI5 transcript variant X22XR_001737401.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.049A=0.951
1000GenomesAmericanSub694G=0.110A=0.890
1000GenomesEast AsianSub1008G=0.025A=0.975
1000GenomesEuropeSub1006G=0.193A=0.807
1000GenomesGlobalStudy-wide5008G=0.080A=0.920
1000GenomesSouth AsianSub978G=0.040A=0.960
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.209A=0.791
The Genome Aggregation DatabaseAfricanSub8724G=0.073A=0.927
The Genome Aggregation DatabaseAmericanSub838G=0.090A=0.910
The Genome Aggregation DatabaseEast AsianSub1622G=0.035A=0.965
The Genome Aggregation DatabaseEuropeSub18466G=0.196A=0.803
The Genome Aggregation DatabaseGlobalStudy-wide29952G=0.147A=0.852
The Genome Aggregation DatabaseOtherSub302G=0.090A=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.130A=0.869
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.206A=0.794
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res
20075157A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia.Khandanpour CBlood

P-Value

SNP ID p-value Traits Study
rs107829223.03E-05alcohol consumption23953852

eQTL of rs10782922 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:92974595EVI5ENSG00000067208.10G>A3.7726e-3-283366Hippocampus

meQTL of rs10782922 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 )
chr19301725693017506E07142661
chr19301725693017506E08242661


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr19295211692952373E067-22222
chr19295211692952373E068-22222
chr19295211692952373E069-22222
chr19295237592952837E069-21758
chr19295211692952373E071-22222
chr19295237592952837E071-21758
chr19295211692952373E072-22222
chr19294757092952045E073-22550
chr19295211692952373E073-22222
chr19295211692952373E074-22222
chr19295237592952837E074-21758