rs8177178

Homo sapiens
G>A
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0332 (9952/29922,GnomAD)
A=0333 (9706/29118,TOPMED)
A=0370 (1853/5008,1000G)
A=0320 (1232/3854,ALSPAC)
A=0305 (1132/3708,TWINSUK)
chr3:133744428 (GRCh38.p7) (3q22.1)
AD
GWASdb2
4   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.133744428G>A
GRCh37.p13 chr 3NC_000003.11:g.133463272G>A
TF RefSeqGeneNG_013080.1:g.3296G>A

Gene: TF, transferrin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TF transcript variant 1NM_001063.3:c.N/AGenic Upstream Transcript 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=0.679A=0.321
1000GenomesAmericanSub694G=0.600A=0.400
1000GenomesEast AsianSub1008G=0.579A=0.421
1000GenomesEuropeSub1006G=0.679A=0.321
1000GenomesGlobalStudy-wide5008G=0.630A=0.370
1000GenomesSouth AsianSub978G=0.590A=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.680A=0.320
The Genome Aggregation DatabaseAfricanSub8706G=0.648A=0.352
The Genome Aggregation DatabaseAmericanSub838G=0.550A=0.450
The Genome Aggregation DatabaseEast AsianSub1618G=0.611A=0.389
The Genome Aggregation DatabaseEuropeSub18458G=0.685A=0.314
The Genome Aggregation DatabaseGlobalStudy-wide29922G=0.667A=0.332
The Genome Aggregation DatabaseOtherSub302G=0.780A=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.666A=0.333
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.695A=0.305
PMID Title Author Journal
19673882A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.Constantine CCBr J Haematol
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet
23089144An association of transferrin gene polymorphism and serum transferrin levels with age-related macular degeneration.Wysokinski DExp Eye Res
25097799Developments in Ocular Genetics: 2013 Annual Review.Aboobakar IFAsia Pac J Ophthalmol (Phila)

P-Value

SNP ID p-value Traits Study
rs81771784.02E-12alcohol consumption21665994

eQTL of rs8177178 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 rs8177178 in Fetal Brain

Probe ID Position Gene beta p-value
cg08048268chr3:133502702-0.1204908481099446.9020e-18
cg01448562chr3:133502909-0.05272641628186011.4158e-17
cg16414030chr3:133502952-0.07766252479906559.8827e-16
cg16275903chr3:133524006SRPRB0.05007241082211237.5914e-15
cg08439880chr3:133502540-0.06074513384996311.9325e-12
cg20276088chr3:133502917-0.03007477175266923.5207e-12
cg11941060chr3:133502564-0.05232166249309857.4788e-11

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr3133431016133431089E067-32183
chr3133436424133436504E067-26768
chr3133461397133461916E067-1356
chr3133461945133462055E067-1217
chr3133464069133464119E067797
chr3133464448133464526E0671176
chr3133482923133483028E06719651
chr3133483054133483594E06719782
chr3133483998133484070E06720726
chr3133436424133436504E068-26768
chr3133464069133464119E068797
chr3133482562133482616E06819290
chr3133482923133483028E06819651
chr3133483054133483594E06819782
chr3133431016133431089E069-32183
chr3133436424133436504E069-26768
chr3133461397133461916E069-1356
chr3133461945133462055E069-1217
chr3133464069133464119E069797
chr3133473014133473073E0699742
chr3133473315133473659E06910043
chr3133476260133476458E06912988
chr3133482562133482616E06919290
chr3133482923133483028E06919651
chr3133483054133483594E06919782
chr3133483998133484070E06920726
chr3133484337133484387E06921065
chr3133482923133483028E07019651
chr3133483054133483594E07019782
chr3133431016133431089E071-32183
chr3133436424133436504E071-26768
chr3133461397133461916E071-1356
chr3133461945133462055E071-1217
chr3133464069133464119E071797
chr3133473014133473073E0719742
chr3133473315133473659E07110043
chr3133482562133482616E07119290
chr3133482923133483028E07119651
chr3133483054133483594E07119782
chr3133483998133484070E07120726
chr3133484337133484387E07121065
chr3133431016133431089E072-32183
chr3133461397133461916E072-1356
chr3133461945133462055E072-1217
chr3133464069133464119E072797
chr3133464448133464526E0721176
chr3133473014133473073E0729742
chr3133482923133483028E07219651
chr3133483054133483594E07219782
chr3133483998133484070E07220726
chr3133484337133484387E07221065
chr3133436424133436504E073-26768
chr3133461397133461916E073-1356
chr3133461945133462055E073-1217
chr3133464448133464526E0731176
chr3133482923133483028E07319651
chr3133483054133483594E07319782
chr3133431016133431089E074-32183
chr3133436424133436504E074-26768
chr3133461397133461916E074-1356
chr3133461945133462055E074-1217
chr3133464069133464119E074797
chr3133473014133473073E0749742
chr3133473315133473659E07410043
chr3133476260133476458E07412988
chr3133482562133482616E07419290
chr3133482923133483028E07419651
chr3133483054133483594E07419782
chr3133483998133484070E07420726
chr3133484337133484387E07421065
chr3133464448133464526E0821176









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E0671703
chr3133465195133465439E0671923
chr3133465691133465761E0672419
chr3133468272133468322E0675000
chr3133464975133465152E0681703
chr3133465195133465439E0681923
chr3133465691133465761E0682419
chr3133468272133468322E0685000
chr3133464975133465152E0691703
chr3133465195133465439E0691923
chr3133465691133465761E0692419
chr3133468272133468322E0695000
chr3133465195133465439E0701923
chr3133464975133465152E0711703
chr3133465195133465439E0711923
chr3133465691133465761E0712419
chr3133468272133468322E0715000
chr3133464975133465152E0721703
chr3133465195133465439E0721923
chr3133465691133465761E0722419
chr3133468272133468322E0725000
chr3133464975133465152E0731703
chr3133465195133465439E0731923
chr3133465691133465761E0732419
chr3133468272133468322E0735000
chr3133464975133465152E0741703
chr3133465195133465439E0741923
chr3133465691133465761E0742419
chr3133468272133468322E0745000
chr3133464975133465152E0811703
chr3133464975133465152E0821703
chr3133465195133465439E0821923