rs8177191

Homo sapiens
G>A
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0129 (3881/29956,GnomAD)
A=0126 (3689/29118,TOPMED)
A=0122 (610/5008,1000G)
A=0171 (660/3854,ALSPAC)
A=0170 (632/3708,TWINSUK)
chr3:133749295 (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.133749295G>A
GRCh37.p13 chr 3NC_000003.11:g.133468139G>A
TF RefSeqGeneNG_013080.1:g.8163G>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=0.934A=0.066
1000GenomesAmericanSub694G=0.880A=0.120
1000GenomesEast AsianSub1008G=0.798A=0.202
1000GenomesEuropeSub1006G=0.855A=0.145
1000GenomesGlobalStudy-wide5008G=0.878A=0.122
1000GenomesSouth AsianSub978G=0.910A=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.829A=0.171
The Genome Aggregation DatabaseAfricanSub8722G=0.918A=0.082
The Genome Aggregation DatabaseAmericanSub836G=0.880A=0.120
The Genome Aggregation DatabaseEast AsianSub1616G=0.810A=0.190
The Genome Aggregation DatabaseEuropeSub18480G=0.854A=0.146
The Genome Aggregation DatabaseGlobalStudy-wide29956G=0.870A=0.129
The Genome Aggregation DatabaseOtherSub302G=0.810A=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.873A=0.126
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.830A=0.170
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
rs81771911.76E-18alcohol consumption21665994

eQTL of rs8177191 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 rs8177191 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 )
chr3133431016133431089E067-37050
chr3133436424133436504E067-31635
chr3133461397133461916E067-6223
chr3133461945133462055E067-6084
chr3133464069133464119E067-4020
chr3133464448133464526E067-3613
chr3133482923133483028E06714784
chr3133483054133483594E06714915
chr3133483998133484070E06715859
chr3133436424133436504E068-31635
chr3133464069133464119E068-4020
chr3133482562133482616E06814423
chr3133482923133483028E06814784
chr3133483054133483594E06814915
chr3133431016133431089E069-37050
chr3133436424133436504E069-31635
chr3133461397133461916E069-6223
chr3133461945133462055E069-6084
chr3133464069133464119E069-4020
chr3133473014133473073E0694875
chr3133473315133473659E0695176
chr3133476260133476458E0698121
chr3133482562133482616E06914423
chr3133482923133483028E06914784
chr3133483054133483594E06914915
chr3133483998133484070E06915859
chr3133484337133484387E06916198
chr3133482923133483028E07014784
chr3133483054133483594E07014915
chr3133431016133431089E071-37050
chr3133436424133436504E071-31635
chr3133461397133461916E071-6223
chr3133461945133462055E071-6084
chr3133464069133464119E071-4020
chr3133473014133473073E0714875
chr3133473315133473659E0715176
chr3133482562133482616E07114423
chr3133482923133483028E07114784
chr3133483054133483594E07114915
chr3133483998133484070E07115859
chr3133484337133484387E07116198
chr3133431016133431089E072-37050
chr3133461397133461916E072-6223
chr3133461945133462055E072-6084
chr3133464069133464119E072-4020
chr3133464448133464526E072-3613
chr3133473014133473073E0724875
chr3133482923133483028E07214784
chr3133483054133483594E07214915
chr3133483998133484070E07215859
chr3133484337133484387E07216198
chr3133436424133436504E073-31635
chr3133461397133461916E073-6223
chr3133461945133462055E073-6084
chr3133464448133464526E073-3613
chr3133482923133483028E07314784
chr3133483054133483594E07314915
chr3133431016133431089E074-37050
chr3133436424133436504E074-31635
chr3133461397133461916E074-6223
chr3133461945133462055E074-6084
chr3133464069133464119E074-4020
chr3133473014133473073E0744875
chr3133473315133473659E0745176
chr3133476260133476458E0748121
chr3133482562133482616E07414423
chr3133482923133483028E07414784
chr3133483054133483594E07414915
chr3133483998133484070E07415859
chr3133484337133484387E07416198
chr3133464448133464526E082-3613









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-2987
chr3133465195133465439E067-2700
chr3133465691133465761E067-2378
chr3133468272133468322E067133
chr3133464975133465152E068-2987
chr3133465195133465439E068-2700
chr3133465691133465761E068-2378
chr3133468272133468322E068133
chr3133464975133465152E069-2987
chr3133465195133465439E069-2700
chr3133465691133465761E069-2378
chr3133468272133468322E069133
chr3133465195133465439E070-2700
chr3133464975133465152E071-2987
chr3133465195133465439E071-2700
chr3133465691133465761E071-2378
chr3133468272133468322E071133
chr3133464975133465152E072-2987
chr3133465195133465439E072-2700
chr3133465691133465761E072-2378
chr3133468272133468322E072133
chr3133464975133465152E073-2987
chr3133465195133465439E073-2700
chr3133465691133465761E073-2378
chr3133468272133468322E073133
chr3133464975133465152E074-2987
chr3133465195133465439E074-2700
chr3133465691133465761E074-2378
chr3133468272133468322E074133
chr3133464975133465152E081-2987
chr3133464975133465152E082-2987
chr3133465195133465439E082-2700