rs872134

Homo sapiens
G>T
None
Check p-value
SNV (Single Nucleotide Variation)
G==0424 (12549/29564,GnomAD)
G==0442 (12872/29118,TOPMED)
G==0326 (1631/5008,1000G)
G==0402 (1548/3854,ALSPAC)
G==0429 (1592/3708,TWINSUK)
chr3:133546688 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133546688G>T
GRCh37.p13 chr 3NC_000003.11:g.133265532G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.534T=0.466
1000GenomesAmericanSub694G=0.340T=0.660
1000GenomesEast AsianSub1008G=0.132T=0.868
1000GenomesEuropeSub1006G=0.371T=0.629
1000GenomesGlobalStudy-wide5008G=0.326T=0.674
1000GenomesSouth AsianSub978G=0.190T=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.402T=0.598
The Genome Aggregation DatabaseAfricanSub8600G=0.501T=0.499
The Genome Aggregation DatabaseAmericanSub832G=0.280T=0.720
The Genome Aggregation DatabaseEast AsianSub1606G=0.125T=0.875
The Genome Aggregation DatabaseEuropeSub18230G=0.420T=0.579
The Genome Aggregation DatabaseGlobalStudy-wide29564G=0.424T=0.575
The Genome Aggregation DatabaseOtherSub296G=0.480T=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.442T=0.557
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.429T=0.571
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
rs8721341.27E-08alcohol consumption21665994

eQTL of rs872134 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 rs872134 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 )
chr3133254911133255817E067-9715
chr3133297382133297726E06731850
chr3133254911133255817E068-9715
chr3133254911133255817E069-9715
chr3133296654133296726E06931122
chr3133296755133296862E06931223
chr3133297034133297084E06931502
chr3133297382133297726E06931850
chr3133254911133255817E070-9715
chr3133297382133297726E07031850
chr3133297382133297726E07131850
chr3133289963133290140E07224431
chr3133297382133297726E07231850
chr3133296654133296726E07331122
chr3133296755133296862E07331223
chr3133297034133297084E07331502
chr3133297382133297726E07331850
chr3133314061133314138E07348529
chr3133314324133314490E07348792
chr3133314501133314644E07348969
chr3133254911133255817E074-9715
chr3133296654133296726E07431122
chr3133296755133296862E07431223
chr3133297034133297084E07431502
chr3133297382133297726E07431850
chr3133296755133296862E08131223
chr3133297034133297084E08131502
chr3133297382133297726E08131850
chr3133297382133297726E08231850










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133291220133294288E06725688
chr3133291220133294288E06825688
chr3133291220133294288E06925688
chr3133291220133294288E07025688
chr3133294433133294485E07028901
chr3133291220133294288E07125688
chr3133294433133294485E07128901
chr3133291220133294288E07225688
chr3133291220133294288E07325688
chr3133291220133294288E07425688
chr3133291220133294288E08225688
chr3133294433133294485E08228901