rs4854727

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
A==0357 (10655/29806,GnomAD)
A==0351 (10231/29118,TOPMED)
A==0254 (1274/5008,1000G)
A==0346 (1333/3854,ALSPAC)
A==0376 (1393/3708,TWINSUK)
chr3:133539041 (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.133539041A>G
GRCh37.p13 chr 3NC_000003.11:g.133257885A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.357G=0.643
1000GenomesAmericanSub694A=0.270G=0.730
1000GenomesEast AsianSub1008A=0.133G=0.867
1000GenomesEuropeSub1006A=0.316G=0.684
1000GenomesGlobalStudy-wide5008A=0.254G=0.746
1000GenomesSouth AsianSub978A=0.170G=0.830
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.346G=0.654
The Genome Aggregation DatabaseAfricanSub8668A=0.370G=0.630
The Genome Aggregation DatabaseAmericanSub830A=0.230G=0.770
The Genome Aggregation DatabaseEast AsianSub1608A=0.124G=0.876
The Genome Aggregation DatabaseEuropeSub18398A=0.378G=0.622
The Genome Aggregation DatabaseGlobalStudy-wide29806A=0.357G=0.642
The Genome Aggregation DatabaseOtherSub302A=0.360G=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.351G=0.648
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.376G=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
rs48547278.08E-07alcohol consumption21665994

eQTL of rs4854727 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 rs4854727 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 )
chr3133254911133255817E067-2068
chr3133297382133297726E06739497
chr3133254911133255817E068-2068
chr3133254911133255817E069-2068
chr3133296654133296726E06938769
chr3133296755133296862E06938870
chr3133297034133297084E06939149
chr3133297382133297726E06939497
chr3133254911133255817E070-2068
chr3133297382133297726E07039497
chr3133297382133297726E07139497
chr3133289963133290140E07232078
chr3133297382133297726E07239497
chr3133296654133296726E07338769
chr3133296755133296862E07338870
chr3133297034133297084E07339149
chr3133297382133297726E07339497
chr3133254911133255817E074-2068
chr3133296654133296726E07438769
chr3133296755133296862E07438870
chr3133297034133297084E07439149
chr3133297382133297726E07439497
chr3133296755133296862E08138870
chr3133297034133297084E08139149
chr3133297382133297726E08139497
chr3133297382133297726E08239497










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133291220133294288E06733335
chr3133291220133294288E06833335
chr3133291220133294288E06933335
chr3133291220133294288E07033335
chr3133294433133294485E07036548
chr3133291220133294288E07133335
chr3133294433133294485E07136548
chr3133291220133294288E07233335
chr3133291220133294288E07333335
chr3133291220133294288E07433335
chr3133291220133294288E08233335
chr3133294433133294485E08236548