rs4970712

Homo sapiens
A>C
EVI5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0148 (4458/29968,GnomAD)
A==0133 (3888/29118,TOPMED)
A==0080 (401/5008,1000G)
A==0209 (805/3854,ALSPAC)
A==0206 (762/3708,TWINSUK)
chr1:92527990 (GRCh38.p7) (1p22.1)
AD
GWASdb2
2   publication(s)
See rs on genome
4 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.92527990A>C
GRCh37.p13 chr 1NC_000001.10:g.92993547A>C

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
1000GenomesAfricanSub1322A=0.051C=0.949
1000GenomesAmericanSub694A=0.110C=0.890
1000GenomesEast AsianSub1008A=0.025C=0.975
1000GenomesEuropeSub1006A=0.193C=0.807
1000GenomesGlobalStudy-wide5008A=0.080C=0.920
1000GenomesSouth AsianSub978A=0.040C=0.960
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.209C=0.791
The Genome Aggregation DatabaseAfricanSub8724A=0.075C=0.925
The Genome Aggregation DatabaseAmericanSub836A=0.090C=0.910
The Genome Aggregation DatabaseEast AsianSub1622A=0.035C=0.965
The Genome Aggregation DatabaseEuropeSub18484A=0.197C=0.803
The Genome Aggregation DatabaseGlobalStudy-wide29968A=0.148C=0.851
The Genome Aggregation DatabaseOtherSub302A=0.090C=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.133C=0.866
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.206C=0.794
PMID Title Author Journal
20087403Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis.Alcina AEur J Hum Genet
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs49707124.9E-05alcohol consumption23953852

eQTL of rs4970712 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:92993547EVI5ENSG00000067208.10A>C3.7726e-3-264414Hippocampus

meQTL of rs4970712 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 )
chr19304293393043029E06949386
chr19304316693043387E06949619
chr19301725693017506E07123709
chr19301725693017506E08223709



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr19295211692952373E067-41174
chr19295211692952373E068-41174
chr19295211692952373E069-41174
chr19295237592952837E069-40710
chr19295211692952373E071-41174
chr19295237592952837E071-40710
chr19295211692952373E072-41174
chr19294757092952045E073-41502
chr19295211692952373E073-41174
chr19295211692952373E074-41174
chr19295237592952837E074-40710