rs4854733

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
A==0397 (11875/29860,GnomAD)
A==0420 (12229/29118,TOPMED)
A==0311 (1556/5008,1000G)
A==0356 (1371/3854,ALSPAC)
A==0375 (1390/3708,TWINSUK)
chr3:133568221 (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.133568221A>G
GRCh37.p13 chr 3NC_000003.11:g.133287065A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.555G=0.445
1000GenomesAmericanSub694A=0.290G=0.710
1000GenomesEast AsianSub1008A=0.127G=0.873
1000GenomesEuropeSub1006A=0.332G=0.668
1000GenomesGlobalStudy-wide5008A=0.311G=0.689
1000GenomesSouth AsianSub978A=0.160G=0.840
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.356G=0.644
The Genome Aggregation DatabaseAfricanSub8678A=0.534G=0.466
The Genome Aggregation DatabaseAmericanSub838A=0.260G=0.740
The Genome Aggregation DatabaseEast AsianSub1606A=0.120G=0.880
The Genome Aggregation DatabaseEuropeSub18436A=0.364G=0.635
The Genome Aggregation DatabaseGlobalStudy-wide29860A=0.397G=0.602
The Genome Aggregation DatabaseOtherSub302A=0.350G=0.650
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.420G=0.580
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.375G=0.625
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
rs48547332.11E-08alcohol consumption21665994

eQTL of rs4854733 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 rs4854733 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 )
chr3133254911133255817E067-31248
chr3133297382133297726E06710317
chr3133254911133255817E068-31248
chr3133254911133255817E069-31248
chr3133296654133296726E0699589
chr3133296755133296862E0699690
chr3133297034133297084E0699969
chr3133297382133297726E06910317
chr3133254911133255817E070-31248
chr3133297382133297726E07010317
chr3133297382133297726E07110317
chr3133289963133290140E0722898
chr3133297382133297726E07210317
chr3133296654133296726E0739589
chr3133296755133296862E0739690
chr3133297034133297084E0739969
chr3133297382133297726E07310317
chr3133314061133314138E07326996
chr3133314324133314490E07327259
chr3133314501133314644E07327436
chr3133254911133255817E074-31248
chr3133296654133296726E0749589
chr3133296755133296862E0749690
chr3133297034133297084E0749969
chr3133297382133297726E07410317
chr3133296755133296862E0819690
chr3133297034133297084E0819969
chr3133297382133297726E08110317
chr3133297382133297726E08210317










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133291220133294288E0674155
chr3133291220133294288E0684155
chr3133291220133294288E0694155
chr3133291220133294288E0704155
chr3133294433133294485E0707368
chr3133291220133294288E0714155
chr3133294433133294485E0717368
chr3133291220133294288E0724155
chr3133291220133294288E0734155
chr3133291220133294288E0744155
chr3133291220133294288E0824155
chr3133294433133294485E0827368