rs4854723

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
A==0478 (14315/29928,GnomAD)
C=0476 (13865/29118,TOPMED)
A==0382 (1912/5008,1000G)
A==0395 (1524/3854,ALSPAC)
A==0421 (1562/3708,TWINSUK)
chr3:133535414 (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.133535414A>C
GRCh37.p13 chr 3NC_000003.11:g.133254258A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.753C=0.247
1000GenomesAmericanSub694A=0.340C=0.660
1000GenomesEast AsianSub1008A=0.132C=0.868
1000GenomesEuropeSub1006A=0.365C=0.635
1000GenomesGlobalStudy-wide5008A=0.382C=0.618
1000GenomesSouth AsianSub978A=0.190C=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.395C=0.605
The Genome Aggregation DatabaseAfricanSub8710A=0.705C=0.295
The Genome Aggregation DatabaseAmericanSub836A=0.290C=0.710
The Genome Aggregation DatabaseEast AsianSub1616A=0.123C=0.877
The Genome Aggregation DatabaseEuropeSub18464A=0.412C=0.588
The Genome Aggregation DatabaseGlobalStudy-wide29928A=0.478C=0.521
The Genome Aggregation DatabaseOtherSub302A=0.440C=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.523C=0.476
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.421C=0.579
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
rs48547232.78E-08alcohol consumption21665994

eQTL of rs4854723 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 rs4854723 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 )
chr3133254911133255817E067653
chr3133297382133297726E06743124
chr3133254911133255817E068653
chr3133254911133255817E069653
chr3133296654133296726E06942396
chr3133296755133296862E06942497
chr3133297034133297084E06942776
chr3133297382133297726E06943124
chr3133254911133255817E070653
chr3133297382133297726E07043124
chr3133297382133297726E07143124
chr3133289963133290140E07235705
chr3133297382133297726E07243124
chr3133296654133296726E07342396
chr3133296755133296862E07342497
chr3133297034133297084E07342776
chr3133297382133297726E07343124
chr3133254911133255817E074653
chr3133296654133296726E07442396
chr3133296755133296862E07442497
chr3133297034133297084E07442776
chr3133297382133297726E07443124
chr3133296755133296862E08142497
chr3133297034133297084E08142776
chr3133297382133297726E08143124
chr3133297382133297726E08243124










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133291220133294288E06736962
chr3133291220133294288E06836962
chr3133291220133294288E06936962
chr3133291220133294288E07036962
chr3133294433133294485E07040175
chr3133291220133294288E07136962
chr3133294433133294485E07140175
chr3133291220133294288E07236962
chr3133291220133294288E07336962
chr3133291220133294288E07436962
chr3133291220133294288E08236962
chr3133294433133294485E08240175