rs2692695

Homo sapiens
A>G
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0442 (13241/29902,GnomAD)
A==0434 (12654/29118,TOPMED)
A==0459 (2299/5008,1000G)
A==0412 (1589/3854,ALSPAC)
A==0409 (1515/3708,TWINSUK)
chr3:133766610 (GRCh38.p7) (3q22.1)
AD
GWASdb2
3   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.133766610A>G
GRCh37.p13 chr 3NC_000003.11:g.133485454A>G
TF RefSeqGeneNG_013080.1:g.25478A>G

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
1000GenomesAfricanSub1322A=0.508G=0.492
1000GenomesAmericanSub694A=0.430G=0.570
1000GenomesEast AsianSub1008A=0.504G=0.496
1000GenomesEuropeSub1006A=0.391G=0.609
1000GenomesGlobalStudy-wide5008A=0.459G=0.541
1000GenomesSouth AsianSub978A=0.440G=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.412G=0.588
The Genome Aggregation DatabaseAfricanSub8696A=0.497G=0.503
The Genome Aggregation DatabaseAmericanSub838A=0.390G=0.610
The Genome Aggregation DatabaseEast AsianSub1604A=0.542G=0.458
The Genome Aggregation DatabaseEuropeSub18464A=0.410G=0.590
The Genome Aggregation DatabaseGlobalStudy-wide29902A=0.442G=0.557
The Genome Aggregation DatabaseOtherSub300A=0.510G=0.490
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.434G=0.565
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.409G=0.591
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
20215856Genetic association of angiogenesis- and hypoxia-related gene polymorphisms with osteonecrosis of the femoral head.Hong JMExp Mol Med

P-Value

SNP ID p-value Traits Study
rs26926954.7E-29alcohol consumption21665994

eQTL of rs2692695 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 rs2692695 in Fetal Brain

Probe ID Position Gene beta p-value
cg08048268chr3:1335027020.09926052816402944.5034e-11
cg16275903chr3:133524006SRPRB-0.04427574276384638.2022e-11
cg01448562chr3:1335029090.03971537851805443.6301e-9
cg16414030chr3:1335029520.06052668501284026.4866e-9

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 )
chr3133436424133436504E067-48950
chr3133461397133461916E067-23538
chr3133461945133462055E067-23399
chr3133464069133464119E067-21335
chr3133464448133464526E067-20928
chr3133482923133483028E067-2426
chr3133483054133483594E067-1860
chr3133483998133484070E067-1384
chr3133436424133436504E068-48950
chr3133464069133464119E068-21335
chr3133482562133482616E068-2838
chr3133482923133483028E068-2426
chr3133483054133483594E068-1860
chr3133436424133436504E069-48950
chr3133461397133461916E069-23538
chr3133461945133462055E069-23399
chr3133464069133464119E069-21335
chr3133473014133473073E069-12381
chr3133473315133473659E069-11795
chr3133476260133476458E069-8996
chr3133482562133482616E069-2838
chr3133482923133483028E069-2426
chr3133483054133483594E069-1860
chr3133483998133484070E069-1384
chr3133484337133484387E069-1067
chr3133482923133483028E070-2426
chr3133483054133483594E070-1860
chr3133436424133436504E071-48950
chr3133461397133461916E071-23538
chr3133461945133462055E071-23399
chr3133464069133464119E071-21335
chr3133473014133473073E071-12381
chr3133473315133473659E071-11795
chr3133482562133482616E071-2838
chr3133482923133483028E071-2426
chr3133483054133483594E071-1860
chr3133483998133484070E071-1384
chr3133484337133484387E071-1067
chr3133461397133461916E072-23538
chr3133461945133462055E072-23399
chr3133464069133464119E072-21335
chr3133464448133464526E072-20928
chr3133473014133473073E072-12381
chr3133482923133483028E072-2426
chr3133483054133483594E072-1860
chr3133483998133484070E072-1384
chr3133484337133484387E072-1067
chr3133436424133436504E073-48950
chr3133461397133461916E073-23538
chr3133461945133462055E073-23399
chr3133464448133464526E073-20928
chr3133482923133483028E073-2426
chr3133483054133483594E073-1860
chr3133436424133436504E074-48950
chr3133461397133461916E074-23538
chr3133461945133462055E074-23399
chr3133464069133464119E074-21335
chr3133473014133473073E074-12381
chr3133473315133473659E074-11795
chr3133476260133476458E074-8996
chr3133482562133482616E074-2838
chr3133482923133483028E074-2426
chr3133483054133483594E074-1860
chr3133483998133484070E074-1384
chr3133484337133484387E074-1067
chr3133526132133526214E08140678
chr3133464448133464526E082-20928










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-20302
chr3133465195133465439E067-20015
chr3133465691133465761E067-19693
chr3133468272133468322E067-17132
chr3133524082133525550E06738628
chr3133525588133525634E06740134
chr3133464975133465152E068-20302
chr3133465195133465439E068-20015
chr3133465691133465761E068-19693
chr3133468272133468322E068-17132
chr3133524082133525550E06838628
chr3133525588133525634E06840134
chr3133464975133465152E069-20302
chr3133465195133465439E069-20015
chr3133465691133465761E069-19693
chr3133468272133468322E069-17132
chr3133524082133525550E06938628
chr3133465195133465439E070-20015
chr3133524082133525550E07038628
chr3133525588133525634E07040134
chr3133464975133465152E071-20302
chr3133465195133465439E071-20015
chr3133465691133465761E071-19693
chr3133468272133468322E071-17132
chr3133524082133525550E07138628
chr3133525588133525634E07140134
chr3133464975133465152E072-20302
chr3133465195133465439E072-20015
chr3133465691133465761E072-19693
chr3133468272133468322E072-17132
chr3133524082133525550E07238628
chr3133525588133525634E07240134
chr3133464975133465152E073-20302
chr3133465195133465439E073-20015
chr3133465691133465761E073-19693
chr3133468272133468322E073-17132
chr3133524082133525550E07338628
chr3133525588133525634E07340134
chr3133464975133465152E074-20302
chr3133465195133465439E074-20015
chr3133465691133465761E074-19693
chr3133468272133468322E074-17132
chr3133524082133525550E07438628
chr3133525588133525634E07440134
chr3133464975133465152E081-20302
chr3133524082133525550E08138628
chr3133525588133525634E08140134
chr3133464975133465152E082-20302
chr3133465195133465439E082-20015
chr3133524082133525550E08238628
chr3133525588133525634E08240134