rs4525863

Homo sapiens
C>A
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0323 (9673/29896,GnomAD)
A=0319 (9309/29118,TOPMED)
A=0364 (1824/5008,1000G)
A=0321 (1236/3854,ALSPAC)
A=0305 (1132/3708,TWINSUK)
chr3:133717292 (GRCh38.p7) (3q22.1)
AD
GWASdb2
3   publication(s)
See rs on genome
74 Enhancers around
60 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133717292C>A
GRCh37.p13 chr 3NC_000003.11:g.133436136C>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
1000GenomesAfricanSub1322C=0.712A=0.288
1000GenomesAmericanSub694C=0.610A=0.390
1000GenomesEast AsianSub1008C=0.577A=0.423
1000GenomesEuropeSub1006C=0.678A=0.322
1000GenomesGlobalStudy-wide5008C=0.636A=0.364
1000GenomesSouth AsianSub978C=0.570A=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.679A=0.321
The Genome Aggregation DatabaseAfricanSub8696C=0.678A=0.322
The Genome Aggregation DatabaseAmericanSub838C=0.550A=0.450
The Genome Aggregation DatabaseEast AsianSub1602C=0.616A=0.384
The Genome Aggregation DatabaseEuropeSub18458C=0.685A=0.315
The Genome Aggregation DatabaseGlobalStudy-wide29896C=0.676A=0.323
The Genome Aggregation DatabaseOtherSub302C=0.780A=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.680A=0.319
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=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
22761678Associations between single nucleotide polymorphisms in iron-related genes and iron status in multiethnic populations.McLaren CEPLoS One

P-Value

SNP ID p-value Traits Study
rs45258633.99E-12alcohol consumption21665994

eQTL of rs4525863 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 rs4525863 in Fetal Brain

Probe ID Position Gene beta p-value
cg08048268chr3:133502702-0.1277476944877998.3478e-20
cg01448562chr3:133502909-0.05585136098758262.0999e-19
cg16414030chr3:133502952-0.08339524502334087.4171e-18
cg16275903chr3:133524006SRPRB0.05314615642747772.2643e-16
cg08439880chr3:133502540-0.06412757792680671.7248e-13
cg20276088chr3:133502917-0.03164738419298144.1226e-13
cg11941060chr3:133502564-0.05592084285211064.9832e-12

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 )
chr3133395447133395540E067-40596
chr3133431016133431089E067-5047
chr3133436424133436504E067288
chr3133461397133461916E06725261
chr3133461945133462055E06725809
chr3133464069133464119E06727933
chr3133464448133464526E06728312
chr3133482923133483028E06746787
chr3133483054133483594E06746918
chr3133483998133484070E06747862
chr3133436424133436504E068288
chr3133464069133464119E06827933
chr3133482562133482616E06846426
chr3133482923133483028E06846787
chr3133483054133483594E06846918
chr3133431016133431089E069-5047
chr3133436424133436504E069288
chr3133461397133461916E06925261
chr3133461945133462055E06925809
chr3133464069133464119E06927933
chr3133473014133473073E06936878
chr3133473315133473659E06937179
chr3133476260133476458E06940124
chr3133482562133482616E06946426
chr3133482923133483028E06946787
chr3133483054133483594E06946918
chr3133483998133484070E06947862
chr3133484337133484387E06948201
chr3133482923133483028E07046787
chr3133483054133483594E07046918
chr3133395447133395540E071-40596
chr3133395561133395628E071-40508
chr3133431016133431089E071-5047
chr3133436424133436504E071288
chr3133461397133461916E07125261
chr3133461945133462055E07125809
chr3133464069133464119E07127933
chr3133473014133473073E07136878
chr3133473315133473659E07137179
chr3133482562133482616E07146426
chr3133482923133483028E07146787
chr3133483054133483594E07146918
chr3133483998133484070E07147862
chr3133484337133484387E07148201
chr3133431016133431089E072-5047
chr3133461397133461916E07225261
chr3133461945133462055E07225809
chr3133464069133464119E07227933
chr3133464448133464526E07228312
chr3133473014133473073E07236878
chr3133482923133483028E07246787
chr3133483054133483594E07246918
chr3133483998133484070E07247862
chr3133484337133484387E07248201
chr3133436424133436504E073288
chr3133461397133461916E07325261
chr3133461945133462055E07325809
chr3133464448133464526E07328312
chr3133482923133483028E07346787
chr3133483054133483594E07346918
chr3133431016133431089E074-5047
chr3133436424133436504E074288
chr3133461397133461916E07425261
chr3133461945133462055E07425809
chr3133464069133464119E07427933
chr3133473014133473073E07436878
chr3133473315133473659E07437179
chr3133476260133476458E07440124
chr3133482562133482616E07446426
chr3133482923133483028E07446787
chr3133483054133483594E07446918
chr3133483998133484070E07447862
chr3133484337133484387E07448201
chr3133464448133464526E08228312









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133392888133393030E067-43106
chr3133393091133393483E067-42653
chr3133393533133393598E067-42538
chr3133393653133393755E067-42381
chr3133464975133465152E06728839
chr3133465195133465439E06729059
chr3133465691133465761E06729555
chr3133468272133468322E06732136
chr3133392888133393030E068-43106
chr3133393091133393483E068-42653
chr3133393533133393598E068-42538
chr3133393653133393755E068-42381
chr3133464975133465152E06828839
chr3133465195133465439E06829059
chr3133465691133465761E06829555
chr3133468272133468322E06832136
chr3133392888133393030E069-43106
chr3133393091133393483E069-42653
chr3133393533133393598E069-42538
chr3133393653133393755E069-42381
chr3133464975133465152E06928839
chr3133465195133465439E06929059
chr3133465691133465761E06929555
chr3133468272133468322E06932136
chr3133465195133465439E07029059
chr3133393091133393483E071-42653
chr3133393533133393598E071-42538
chr3133393653133393755E071-42381
chr3133464975133465152E07128839
chr3133465195133465439E07129059
chr3133465691133465761E07129555
chr3133468272133468322E07132136
chr3133392888133393030E072-43106
chr3133393091133393483E072-42653
chr3133393533133393598E072-42538
chr3133393653133393755E072-42381
chr3133464975133465152E07228839
chr3133465195133465439E07229059
chr3133465691133465761E07229555
chr3133468272133468322E07232136
chr3133392888133393030E073-43106
chr3133393091133393483E073-42653
chr3133393533133393598E073-42538
chr3133393653133393755E073-42381
chr3133464975133465152E07328839
chr3133465195133465439E07329059
chr3133465691133465761E07329555
chr3133468272133468322E07332136
chr3133393091133393483E074-42653
chr3133393533133393598E074-42538
chr3133393653133393755E074-42381
chr3133464975133465152E07428839
chr3133465195133465439E07429059
chr3133465691133465761E07429555
chr3133468272133468322E07432136
chr3133464975133465152E08128839
chr3133393091133393483E082-42653
chr3133393533133393598E082-42538
chr3133464975133465152E08228839
chr3133465195133465439E08229059