rs4017074

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0298 (8917/29862,GnomAD)
T==0258 (7535/29118,TOPMED)
T==0192 (963/5008,1000G)
T==0346 (1332/3854,ALSPAC)
T==0376 (1394/3708,TWINSUK)
chr3:133541583 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
26 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133541583T>C
GRCh37.p13 chr 3NC_000003.11:g.133260427T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.132C=0.868
1000GenomesAmericanSub694T=0.250C=0.750
1000GenomesEast AsianSub1008T=0.132C=0.868
1000GenomesEuropeSub1006T=0.316C=0.684
1000GenomesGlobalStudy-wide5008T=0.192C=0.808
1000GenomesSouth AsianSub978T=0.170C=0.830
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.346C=0.654
The Genome Aggregation DatabaseAfricanSub8696T=0.171C=0.829
The Genome Aggregation DatabaseAmericanSub838T=0.210C=0.790
The Genome Aggregation DatabaseEast AsianSub1612T=0.121C=0.879
The Genome Aggregation DatabaseEuropeSub18414T=0.377C=0.622
The Genome Aggregation DatabaseGlobalStudy-wide29862T=0.298C=0.701
The Genome Aggregation DatabaseOtherSub302T=0.360C=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.258C=0.741
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.376C=0.624
PMID Title Author Journal
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs40170747.76E-07alcohol consumption21665994

eQTL of rs4017074 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs4017074 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 )
chr3133254911133255817E067-4610
chr3133297382133297726E06736955
chr3133254911133255817E068-4610
chr3133254911133255817E069-4610
chr3133296654133296726E06936227
chr3133296755133296862E06936328
chr3133297034133297084E06936607
chr3133297382133297726E06936955
chr3133254911133255817E070-4610
chr3133297382133297726E07036955
chr3133297382133297726E07136955
chr3133289963133290140E07229536
chr3133297382133297726E07236955
chr3133296654133296726E07336227
chr3133296755133296862E07336328
chr3133297034133297084E07336607
chr3133297382133297726E07336955
chr3133254911133255817E074-4610
chr3133296654133296726E07436227
chr3133296755133296862E07436328
chr3133297034133297084E07436607
chr3133297382133297726E07436955
chr3133296755133296862E08136328
chr3133297034133297084E08136607
chr3133297382133297726E08136955
chr3133297382133297726E08236955










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133291220133294288E06730793
chr3133291220133294288E06830793
chr3133291220133294288E06930793
chr3133291220133294288E07030793
chr3133294433133294485E07034006
chr3133291220133294288E07130793
chr3133294433133294485E07134006
chr3133291220133294288E07230793
chr3133291220133294288E07330793
chr3133291220133294288E07430793
chr3133291220133294288E08230793
chr3133294433133294485E08234006