SNP Detail Info-rs6603979

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.92513797A>G
GRCh37.p13 chr 1	NC_000001.10:g.92979354A>G

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

Molecule type	Change	Amino acid[Codon]	SO Term
EVI5 transcript variant 1	NM_001308248.1:c....NM_001308248.1:c.2325T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform 1	NP_001295177.1:p....NP_001295177.1:p.Gly775=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant 2	NM_005665.5:c.229...NM_005665.5:c.2292T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform 2	NP_005656.4:p.Gly...NP_005656.4:p.Gly764=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X16	XM_017002282.1:c.	N/A	3 Prime UTR Variant
EVI5 transcript variant X17	XM_017002283.1:c.	N/A	3 Prime UTR Variant
EVI5 transcript variant X17	XM_017002285.1:c.	N/A	3 Prime UTR Variant
EVI5 transcript variant X1	XM_017002269.1:c....XM_017002269.1:c.2652T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X1	XP_016857758.1:p....XP_016857758.1:p.Gly884=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X2	XM_017002270.1:c....XM_017002270.1:c.2643T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X2	XP_016857759.1:p....XP_016857759.1:p.Gly881=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X3	XM_017002271.1:c....XM_017002271.1:c.2571T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X3	XP_016857760.1:p....XP_016857760.1:p.Gly857=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X4	XM_017002272.1:c....XM_017002272.1:c.2553T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X4	XP_016857761.1:p....XP_016857761.1:p.Gly851=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X5	XM_017002273.1:c....XM_017002273.1:c.2520T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X5	XP_016857762.1:p....XP_016857762.1:p.Gly840=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X6	XM_017002274.1:c....XM_017002274.1:c.2520T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X5	XP_016857763.1:p....XP_016857763.1:p.Gly840=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X7	XM_017002275.1:c....XM_017002275.1:c.2520T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X5	XP_016857764.1:p....XP_016857764.1:p.Gly840=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X8	XM_017002276.1:c....XM_017002276.1:c.2439T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X7	XP_016857765.1:p....XP_016857765.1:p.Gly813=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X10	XM_017002277.1:c....XM_017002277.1:c.2424T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X8	XP_016857766.1:p....XP_016857766.1:p.Gly808=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X11	XM_017002278.1:c....XM_017002278.1:c.2406T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X9	XP_016857767.1:p....XP_016857767.1:p.Gly802=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X12	XM_017002279.1:c....XM_017002279.1:c.2385T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X10	XP_016857768.1:p....XP_016857768.1:p.Gly795=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X12	XM_017002280.1:c....XM_017002280.1:c.2340T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X10	XP_016857769.1:p....XP_016857769.1:p.Gly780=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X13	XM_017002281.1:c....XM_017002281.1:c.2316T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X12	XP_016857770.1:p....XP_016857770.1:p.Gly772=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X16	XM_017002284.1:c....XM_017002284.1:c.2193T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X16	XP_016857773.1:p....XP_016857773.1:p.Gly731=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X18	XM_017002286.1:c....XM_017002286.1:c.2028T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X17	XP_016857775.1:p....XP_016857775.1:p.Gly676=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X19	XM_017002287.1:c....XM_017002287.1:c.2028T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X17	XP_016857776.1:p....XP_016857776.1:p.Gly676=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X21	XM_017002288.1:c....XM_017002288.1:c.2028T>C	G [GGT]> G [GGC]	Coding Sequence Variant
ecotropic viral integration site 5 protein homolog isoform X17	XP_016857777.1:p....XP_016857777.1:p.Gly676=	G [Gly]> G [Gly]	Synonymous Variant
EVI5 transcript variant X22	XR_001737401.1:n.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.049	G=0.951
1000Genomes	American	Sub	694	A=0.110	G=0.890
1000Genomes	East Asian	Sub	1008	A=0.025	G=0.975
1000Genomes	Europe	Sub	1006	A=0.193	G=0.807
1000Genomes	Global	Study-wide	5008	A=0.080	G=0.920
1000Genomes	South Asian	Sub	978	A=0.040	G=0.960
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.207	G=0.793
The Exome Aggregation Consortium	American	Sub	21972	A=0.076	G=0.923
The Exome Aggregation Consortium	Asian	Sub	25162	A=0.045	G=0.954
The Exome Aggregation Consortium	Europe	Sub	73326	A=0.204	G=0.795
The Exome Aggregation Consortium	Global	Study-wide	121368	A=0.148	G=0.851
The Exome Aggregation Consortium	Other	Sub	908	A=0.140	G=0.860
The Genome Aggregation Database	African	Sub	8678	A=0.072	G=0.928
The Genome Aggregation Database	American	Sub	836	A=0.090	G=0.910
The Genome Aggregation Database	East Asian	Sub	1618	A=0.035	G=0.965
The Genome Aggregation Database	Europe	Sub	18346	A=0.194	G=0.805
The Genome Aggregation Database	Global	Study-wide	29780	A=0.146	G=0.853
The Genome Aggregation Database	Other	Sub	302	A=0.090	G=0.910
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.132	G=0.867
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.204	G=0.796

PMID	Title	Author	Journal
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res

P-Value

SNP ID	p-value	Traits	Study
rs6603979	4E-05	alcohol consumption	23953852

eQTL of rs6603979 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:92979354	EVI5	ENSG00000067208.10	A>G	3.7726e-3	-278607	Hippocampus

meQTL of rs6603979 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	93017256	93017506	E071	37902
chr1	93017256	93017506	E082	37902

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	92952116	92952373	E067	-26981
chr1	92952116	92952373	E068	-26981
chr1	92952116	92952373	E069	-26981
chr1	92952375	92952837	E069	-26517
chr1	92952116	92952373	E071	-26981
chr1	92952375	92952837	E071	-26517
chr1	92952116	92952373	E072	-26981
chr1	92947570	92952045	E073	-27309
chr1	92952116	92952373	E073	-26981
chr1	92952116	92952373	E074	-26981
chr1	92952375	92952837	E074	-26517

rs6603979

Genomic Coordinates

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

Population Frequency

P-Value

eQTL of rs6603979 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs6603979 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)