rs1800277

Homo sapiens
C>T
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0075 (2257/29974,GnomAD)
T=0069 (2017/29118,TOPMED)
T=0081 (404/5008,1000G)
T=0046 (177/3854,ALSPAC)
T=0038 (141/3708,TWINSUK)
chr3:133747311 (GRCh38.p7) (3q22.1)
AD
GWASdb2
2   publication(s)
See rs on genome
71 Enhancers around
32 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133747311C>T
GRCh37.p13 chr 3NC_000003.11:g.133466155C>T
TF RefSeqGeneNG_013080.1:g.6179C>T

Gene: TF, transferrin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TF transcript variant 1NM_001063.3:c.N/AIntron Variant
TF transcript variant X1XM_017007089.1:c.N/AIntron Variant
TF transcript variant X2XM_017007090.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.893T=0.107
1000GenomesAmericanSub694C=0.950T=0.050
1000GenomesEast AsianSub1008C=0.947T=0.053
1000GenomesEuropeSub1006C=0.944T=0.056
1000GenomesGlobalStudy-wide5008C=0.919T=0.081
1000GenomesSouth AsianSub978C=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.954T=0.046
The Genome Aggregation DatabaseAfricanSub8728C=0.897T=0.103
The Genome Aggregation DatabaseAmericanSub838C=0.960T=0.040
The Genome Aggregation DatabaseEast AsianSub1618C=0.938T=0.062
The Genome Aggregation DatabaseEuropeSub18488C=0.934T=0.065
The Genome Aggregation DatabaseGlobalStudy-wide29974C=0.924T=0.075
The Genome Aggregation DatabaseOtherSub302C=0.940T=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.930T=0.069
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.962T=0.038
PMID Title Author Journal
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet
23386860Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.Pasquale LRFront Genet

P-Value

SNP ID p-value Traits Study
rs18002771.6E-14alcohol consumption21665994

eQTL of rs1800277 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 rs1800277 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 )
chr3133431016133431089E067-35066
chr3133436424133436504E067-29651
chr3133461397133461916E067-4239
chr3133461945133462055E067-4100
chr3133464069133464119E067-2036
chr3133464448133464526E067-1629
chr3133482923133483028E06716768
chr3133483054133483594E06716899
chr3133483998133484070E06717843
chr3133436424133436504E068-29651
chr3133464069133464119E068-2036
chr3133482562133482616E06816407
chr3133482923133483028E06816768
chr3133483054133483594E06816899
chr3133431016133431089E069-35066
chr3133436424133436504E069-29651
chr3133461397133461916E069-4239
chr3133461945133462055E069-4100
chr3133464069133464119E069-2036
chr3133473014133473073E0696859
chr3133473315133473659E0697160
chr3133476260133476458E06910105
chr3133482562133482616E06916407
chr3133482923133483028E06916768
chr3133483054133483594E06916899
chr3133483998133484070E06917843
chr3133484337133484387E06918182
chr3133482923133483028E07016768
chr3133483054133483594E07016899
chr3133431016133431089E071-35066
chr3133436424133436504E071-29651
chr3133461397133461916E071-4239
chr3133461945133462055E071-4100
chr3133464069133464119E071-2036
chr3133473014133473073E0716859
chr3133473315133473659E0717160
chr3133482562133482616E07116407
chr3133482923133483028E07116768
chr3133483054133483594E07116899
chr3133483998133484070E07117843
chr3133484337133484387E07118182
chr3133431016133431089E072-35066
chr3133461397133461916E072-4239
chr3133461945133462055E072-4100
chr3133464069133464119E072-2036
chr3133464448133464526E072-1629
chr3133473014133473073E0726859
chr3133482923133483028E07216768
chr3133483054133483594E07216899
chr3133483998133484070E07217843
chr3133484337133484387E07218182
chr3133436424133436504E073-29651
chr3133461397133461916E073-4239
chr3133461945133462055E073-4100
chr3133464448133464526E073-1629
chr3133482923133483028E07316768
chr3133483054133483594E07316899
chr3133431016133431089E074-35066
chr3133436424133436504E074-29651
chr3133461397133461916E074-4239
chr3133461945133462055E074-4100
chr3133464069133464119E074-2036
chr3133473014133473073E0746859
chr3133473315133473659E0747160
chr3133476260133476458E07410105
chr3133482562133482616E07416407
chr3133482923133483028E07416768
chr3133483054133483594E07416899
chr3133483998133484070E07417843
chr3133484337133484387E07418182
chr3133464448133464526E082-1629









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-1003
chr3133465195133465439E067-716
chr3133465691133465761E067-394
chr3133468272133468322E0672117
chr3133464975133465152E068-1003
chr3133465195133465439E068-716
chr3133465691133465761E068-394
chr3133468272133468322E0682117
chr3133464975133465152E069-1003
chr3133465195133465439E069-716
chr3133465691133465761E069-394
chr3133468272133468322E0692117
chr3133465195133465439E070-716
chr3133464975133465152E071-1003
chr3133465195133465439E071-716
chr3133465691133465761E071-394
chr3133468272133468322E0712117
chr3133464975133465152E072-1003
chr3133465195133465439E072-716
chr3133465691133465761E072-394
chr3133468272133468322E0722117
chr3133464975133465152E073-1003
chr3133465195133465439E073-716
chr3133465691133465761E073-394
chr3133468272133468322E0732117
chr3133464975133465152E074-1003
chr3133465195133465439E074-716
chr3133465691133465761E074-394
chr3133468272133468322E0742117
chr3133464975133465152E081-1003
chr3133464975133465152E082-1003
chr3133465195133465439E082-716