rs3811647

Homo sapiens
G>A
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0305 (9139/29906,GnomAD)
A=0297 (8672/29118,TOPMED)
A=0341 (1706/5008,1000G)
A=0333 (1285/3854,ALSPAC)
A=0336 (1246/3708,TWINSUK)
chr3:133765185 (GRCh38.p7) (3q22.1)
AD
GWASdb2
25   publication(s)
See rs on genome
67 Enhancers around
51 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133765185G>A
GRCh37.p13 chr 3NC_000003.11:g.133484029G>A
TF RefSeqGeneNG_013080.1:g.24053G>A

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
1000GenomesAfricanSub1322G=0.808A=0.192
1000GenomesAmericanSub694G=0.610A=0.390
1000GenomesEast AsianSub1008G=0.573A=0.427
1000GenomesEuropeSub1006G=0.652A=0.348
1000GenomesGlobalStudy-wide5008G=0.659A=0.341
1000GenomesSouth AsianSub978G=0.590A=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.667A=0.333
The Genome Aggregation DatabaseAfricanSub8698G=0.775A=0.225
The Genome Aggregation DatabaseAmericanSub834G=0.540A=0.460
The Genome Aggregation DatabaseEast AsianSub1612G=0.600A=0.400
The Genome Aggregation DatabaseEuropeSub18460G=0.671A=0.328
The Genome Aggregation DatabaseGlobalStudy-wide29906G=0.694A=0.305
The Genome Aggregation DatabaseOtherSub302G=0.740A=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.702A=0.297
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.664A=0.336
PMID Title Author Journal
24121126Pooled analysis of iron-related genes in Parkinson's disease: association with transferrin.Rhodes SLNeurobiol Dis
22232660Brain structure in healthy adults is related to serum transferrin and the H63D polymorphism in the HFE gene.Jahanshad NProc Natl Acad Sci U S A
21483845Genome-wide association study identifies genetic loci associated with iron deficiency.McLaren CEPLoS One
20095037Heritability of serum iron measures in the hemochromatosis and iron overload screening (HEIRS) family study.McLaren CEAm J Hematol
24391736The contribution of diet and genotype to iron status in women: a classical twin study.Fairweather-Tait SJPLoS One
25457201Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.de Tayrac MJ Hepatol
21208937Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.Pichler IHum Mol Genet
27730450Candidate gene studies of diabetic retinopathy in human.Priscakova PMol Biol Rep
19820699Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.Benyamin BNat Genet
21978626Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women.Blanco-Rojo RNutr Metab (Lond)
19673882A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.Constantine CCBr J Haematol
27437086Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.Eom SYToxicol Res
27255824Determinants of iron accumulation in the normal aging brain.Pirpamer LNeurobiol Aging
23996192Toenail iron, genetic determinants of iron status, and the risk of glioma.Anic GMCancer Causes Control
27332551Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry.Gichohi-Wainaina WNPLoS One
26582562Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver.Engelken JMol Biol Evol
22323359TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia.An PHum Mol Genet
25809685Common Variants and Haplotypes in the TF, TNF-alpha, and TMPRSS6 Genes Are Associated with Iron Status in a Female Black South African Population.Gichohi-Wainaina WNJ Nutr
23903878Prenatal methylmercury exposure and genetic predisposition to cognitive deficit at age 8 years.Julvez JEpidemiology
23092954SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.Meirelles ODEur J Hum Genet
22815867Genetic determinants for body iron store and type 2 diabetes risk in US men and women.He MPLoS One
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet
19084217Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.Benyamin BAm J Hum Genet
22761678Associations between single nucleotide polymorphisms in iron-related genes and iron status in multiethnic populations.McLaren CEPLoS One
24398642Maternal iron levels early in pregnancy are not associated with offspring IQ score at age 8, findings from a Mendelian randomization study.Lewis SJEur J Clin Nutr

P-Value

SNP ID p-value Traits Study
rs38116471E-35alcohol consumption (transferrin glycosylation)21665994

eQTL of rs3811647 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 rs3811647 in Fetal Brain

Probe ID Position Gene beta p-value
cg16414030chr3:133502952-0.1108991933413193.6917e-37
cg01448562chr3:133502909-0.0703522297899756.1128e-35
cg08048268chr3:133502702-0.1586090079907912.7334e-34
cg16275903chr3:133524006SRPRB0.06522249981324293.9039e-26
cg11941060chr3:133502564-0.07734362670626881.6658e-24
cg20276088chr3:133502917-0.04140932211115681.2545e-23
cg08439880chr3:133502540-0.08256063289830021.8353e-23

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 )
chr3133436424133436504E067-47525
chr3133461397133461916E067-22113
chr3133461945133462055E067-21974
chr3133464069133464119E067-19910
chr3133464448133464526E067-19503
chr3133482923133483028E067-1001
chr3133483054133483594E067-435
chr3133483998133484070E0670
chr3133436424133436504E068-47525
chr3133464069133464119E068-19910
chr3133482562133482616E068-1413
chr3133482923133483028E068-1001
chr3133483054133483594E068-435
chr3133436424133436504E069-47525
chr3133461397133461916E069-22113
chr3133461945133462055E069-21974
chr3133464069133464119E069-19910
chr3133473014133473073E069-10956
chr3133473315133473659E069-10370
chr3133476260133476458E069-7571
chr3133482562133482616E069-1413
chr3133482923133483028E069-1001
chr3133483054133483594E069-435
chr3133483998133484070E0690
chr3133484337133484387E069308
chr3133482923133483028E070-1001
chr3133483054133483594E070-435
chr3133436424133436504E071-47525
chr3133461397133461916E071-22113
chr3133461945133462055E071-21974
chr3133464069133464119E071-19910
chr3133473014133473073E071-10956
chr3133473315133473659E071-10370
chr3133482562133482616E071-1413
chr3133482923133483028E071-1001
chr3133483054133483594E071-435
chr3133483998133484070E0710
chr3133484337133484387E071308
chr3133461397133461916E072-22113
chr3133461945133462055E072-21974
chr3133464069133464119E072-19910
chr3133464448133464526E072-19503
chr3133473014133473073E072-10956
chr3133482923133483028E072-1001
chr3133483054133483594E072-435
chr3133483998133484070E0720
chr3133484337133484387E072308
chr3133436424133436504E073-47525
chr3133461397133461916E073-22113
chr3133461945133462055E073-21974
chr3133464448133464526E073-19503
chr3133482923133483028E073-1001
chr3133483054133483594E073-435
chr3133436424133436504E074-47525
chr3133461397133461916E074-22113
chr3133461945133462055E074-21974
chr3133464069133464119E074-19910
chr3133473014133473073E074-10956
chr3133473315133473659E074-10370
chr3133476260133476458E074-7571
chr3133482562133482616E074-1413
chr3133482923133483028E074-1001
chr3133483054133483594E074-435
chr3133483998133484070E0740
chr3133484337133484387E074308
chr3133526132133526214E08142103
chr3133464448133464526E082-19503










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-18877
chr3133465195133465439E067-18590
chr3133465691133465761E067-18268
chr3133468272133468322E067-15707
chr3133524082133525550E06740053
chr3133525588133525634E06741559
chr3133464975133465152E068-18877
chr3133465195133465439E068-18590
chr3133465691133465761E068-18268
chr3133468272133468322E068-15707
chr3133524082133525550E06840053
chr3133525588133525634E06841559
chr3133464975133465152E069-18877
chr3133465195133465439E069-18590
chr3133465691133465761E069-18268
chr3133468272133468322E069-15707
chr3133524082133525550E06940053
chr3133465195133465439E070-18590
chr3133524082133525550E07040053
chr3133525588133525634E07041559
chr3133464975133465152E071-18877
chr3133465195133465439E071-18590
chr3133465691133465761E071-18268
chr3133468272133468322E071-15707
chr3133524082133525550E07140053
chr3133525588133525634E07141559
chr3133464975133465152E072-18877
chr3133465195133465439E072-18590
chr3133465691133465761E072-18268
chr3133468272133468322E072-15707
chr3133524082133525550E07240053
chr3133525588133525634E07241559
chr3133464975133465152E073-18877
chr3133465195133465439E073-18590
chr3133465691133465761E073-18268
chr3133468272133468322E073-15707
chr3133524082133525550E07340053
chr3133525588133525634E07341559
chr3133464975133465152E074-18877
chr3133465195133465439E074-18590
chr3133465691133465761E074-18268
chr3133468272133468322E074-15707
chr3133524082133525550E07440053
chr3133525588133525634E07441559
chr3133464975133465152E081-18877
chr3133524082133525550E08140053
chr3133525588133525634E08141559
chr3133464975133465152E082-18877
chr3133465195133465439E082-18590
chr3133524082133525550E08240053
chr3133525588133525634E08241559