rs7614812

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
C==0387 (11596/29960,GnomAD)
C==0379 (11054/29118,TOPMED)
C==0271 (1356/5008,1000G)
C==0402 (1548/3854,ALSPAC)
C==0427 (1585/3708,TWINSUK)
chr3:133545407 (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.133545407C>A
GRCh37.p13 chr 3NC_000003.11:g.133264251C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.355A=0.645
1000GenomesAmericanSub694C=0.310A=0.690
1000GenomesEast AsianSub1008C=0.133A=0.867
1000GenomesEuropeSub1006C=0.368A=0.632
1000GenomesGlobalStudy-wide5008C=0.271A=0.729
1000GenomesSouth AsianSub978C=0.170A=0.830
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.402A=0.598
The Genome Aggregation DatabaseAfricanSub8718C=0.380A=0.620
The Genome Aggregation DatabaseAmericanSub836C=0.260A=0.740
The Genome Aggregation DatabaseEast AsianSub1622C=0.125A=0.875
The Genome Aggregation DatabaseEuropeSub18482C=0.418A=0.581
The Genome Aggregation DatabaseGlobalStudy-wide29960C=0.387A=0.613
The Genome Aggregation DatabaseOtherSub302C=0.430A=0.570
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.379A=0.620
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.427A=0.573
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
rs76148121.26E-08alcohol consumption21665994

eQTL of rs7614812 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 rs7614812 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 )
chr3133254911133255817E067-8434
chr3133297382133297726E06733131
chr3133254911133255817E068-8434
chr3133254911133255817E069-8434
chr3133296654133296726E06932403
chr3133296755133296862E06932504
chr3133297034133297084E06932783
chr3133297382133297726E06933131
chr3133254911133255817E070-8434
chr3133297382133297726E07033131
chr3133297382133297726E07133131
chr3133289963133290140E07225712
chr3133297382133297726E07233131
chr3133296654133296726E07332403
chr3133296755133296862E07332504
chr3133297034133297084E07332783
chr3133297382133297726E07333131
chr3133314061133314138E07349810
chr3133254911133255817E074-8434
chr3133296654133296726E07432403
chr3133296755133296862E07432504
chr3133297034133297084E07432783
chr3133297382133297726E07433131
chr3133296755133296862E08132504
chr3133297034133297084E08132783
chr3133297382133297726E08133131
chr3133297382133297726E08233131










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133291220133294288E06726969
chr3133291220133294288E06826969
chr3133291220133294288E06926969
chr3133291220133294288E07026969
chr3133294433133294485E07030182
chr3133291220133294288E07126969
chr3133294433133294485E07130182
chr3133291220133294288E07226969
chr3133291220133294288E07326969
chr3133291220133294288E07426969
chr3133291220133294288E08226969
chr3133294433133294485E08230182