rs1886682

Homo sapiens
A>G / A>T
EVI5 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0147 (4428/29942,GnomAD)
A==0132 (3863/29118,TOPMED)
A==0080 (401/5008,1000G)
A==0209 (805/3854,ALSPAC)
A==0206 (763/3708,TWINSUK)
chr1:92511718 (GRCh38.p7) (1p22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
12 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.92511718A>G
GRCh38.p7 chr 1NC_000001.11:g.92511718A>T
GRCh37.p13 chr 1NC_000001.10:g.92977275A>G
GRCh37.p13 chr 1NC_000001.10:g.92977275A>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/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
1000GenomesAfricanSub1322A=0.049G=0.951
1000GenomesAmericanSub694A=0.110G=0.890
1000GenomesEast AsianSub1008A=0.027G=0.973
1000GenomesEuropeSub1006A=0.193G=0.807
1000GenomesGlobalStudy-wide5008A=0.080G=0.920
1000GenomesSouth AsianSub978A=0.040G=0.960
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.209G=0.791
The Genome Aggregation DatabaseAfricanSub8722A=0.073G=0.927
The Genome Aggregation DatabaseAmericanSub838A=0.090G=0.910
The Genome Aggregation DatabaseEast AsianSub1620A=0.035G=0.965
The Genome Aggregation DatabaseEuropeSub18460A=0.196G=0.803
The Genome Aggregation DatabaseGlobalStudy-wide29942A=0.147G=0.852
The Genome Aggregation DatabaseOtherSub302A=0.090G=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.132G=0.867
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.206G=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
rs18866823.09E-05alcohol consumption23953852

eQTL of rs1886682 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:92977275EVI5ENSG00000067208.10A>G3.7726e-3-280686Hippocampus

meQTL of rs1886682 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 )
chr18269153882692114E068-5978
chr18265193782652007E070-46085
chr18266335982663560E070-34532
chr18268003382681879E070-16213
chr18269153882692114E070-5978
chr18269105382691517E071-6575
chr18269153882692114E071-5978
chr18266335982663560E081-34532
chr18266457782664727E081-33365
chr18266472982664837E081-33255
chr18268003382681879E081-16213
chr18267715682677421E082-20671