rs1444600

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0424 (12701/29958,GnomAD)
C==0460 (13396/29118,TOPMED)
C==0342 (1711/5008,1000G)
C==0357 (1376/3854,ALSPAC)
C==0376 (1396/3708,TWINSUK)
chr3:133569662 (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.133569662C>T
GRCh37.p13 chr 3NC_000003.11:g.133288506C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.665T=0.335
1000GenomesAmericanSub694C=0.300T=0.700
1000GenomesEast AsianSub1008C=0.130T=0.870
1000GenomesEuropeSub1006C=0.334T=0.666
1000GenomesGlobalStudy-wide5008C=0.342T=0.658
1000GenomesSouth AsianSub978C=0.160T=0.840
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.357T=0.643
The Genome Aggregation DatabaseAfricanSub8708C=0.621T=0.379
The Genome Aggregation DatabaseAmericanSub838C=0.280T=0.720
The Genome Aggregation DatabaseEast AsianSub1620C=0.119T=0.881
The Genome Aggregation DatabaseEuropeSub18490C=0.365T=0.634
The Genome Aggregation DatabaseGlobalStudy-wide29958C=0.424T=0.576
The Genome Aggregation DatabaseOtherSub302C=0.360T=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.460T=0.539
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.376T=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
rs14446006.62E-08alcohol consumption21665994

eQTL of rs1444600 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 rs1444600 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 )
chr3133254911133255817E067-32689
chr3133297382133297726E0678876
chr3133254911133255817E068-32689
chr3133254911133255817E069-32689
chr3133296654133296726E0698148
chr3133296755133296862E0698249
chr3133297034133297084E0698528
chr3133297382133297726E0698876
chr3133254911133255817E070-32689
chr3133297382133297726E0708876
chr3133297382133297726E0718876
chr3133289963133290140E0721457
chr3133297382133297726E0728876
chr3133296654133296726E0738148
chr3133296755133296862E0738249
chr3133297034133297084E0738528
chr3133297382133297726E0738876
chr3133314061133314138E07325555
chr3133314324133314490E07325818
chr3133314501133314644E07325995
chr3133254911133255817E074-32689
chr3133296654133296726E0748148
chr3133296755133296862E0748249
chr3133297034133297084E0748528
chr3133297382133297726E0748876
chr3133296755133296862E0818249
chr3133297034133297084E0818528
chr3133297382133297726E0818876
chr3133297382133297726E0828876










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133291220133294288E0672714
chr3133291220133294288E0682714
chr3133291220133294288E0692714
chr3133291220133294288E0702714
chr3133294433133294485E0705927
chr3133291220133294288E0712714
chr3133294433133294485E0715927
chr3133291220133294288E0722714
chr3133291220133294288E0732714
chr3133291220133294288E0742714
chr3133291220133294288E0822714
chr3133294433133294485E0825927