rs8177213

Homo sapiens
A>C
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0240 (7178/29908,GnomAD)
C=0241 (7032/29118,TOPMED)
C=0216 (1082/5008,1000G)
C=0287 (1105/3854,ALSPAC)
C=0289 (1072/3708,TWINSUK)
chr3:133753383 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   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.133753383A>C
GRCh37.p13 chr 3NC_000003.11:g.133472227A>C
TF RefSeqGeneNG_013080.1:g.12251A>C

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=0.792C=0.208
1000GenomesAmericanSub694A=0.760C=0.240
1000GenomesEast AsianSub1008A=0.760C=0.240
1000GenomesEuropeSub1006A=0.759C=0.241
1000GenomesGlobalStudy-wide5008A=0.784C=0.216
1000GenomesSouth AsianSub978A=0.840C=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.713C=0.287
The Genome Aggregation DatabaseAfricanSub8698A=0.785C=0.215
The Genome Aggregation DatabaseAmericanSub836A=0.770C=0.230
The Genome Aggregation DatabaseEast AsianSub1616A=0.780C=0.220
The Genome Aggregation DatabaseEuropeSub18460A=0.747C=0.252
The Genome Aggregation DatabaseGlobalStudy-wide29908A=0.760C=0.240
The Genome Aggregation DatabaseOtherSub298A=0.670C=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.758C=0.241
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.711C=0.289
PMID Title Author Journal
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs81772132.92E-07alcohol consumption21665994

eQTL of rs8177213 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 rs8177213 in Fetal Brain

Probe ID Position Gene beta p-value
cg08048268chr3:1335027020.1172195943267224.3708e-11
cg01448562chr3:1335029090.04631157397186595.8377e-9
cg16275903chr3:133524006SRPRB-0.04720461186064836.9198e-9

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr3133431016133431089E067-41138
chr3133436424133436504E067-35723
chr3133461397133461916E067-10311
chr3133461945133462055E067-10172
chr3133464069133464119E067-8108
chr3133464448133464526E067-7701
chr3133482923133483028E06710696
chr3133483054133483594E06710827
chr3133483998133484070E06711771
chr3133436424133436504E068-35723
chr3133464069133464119E068-8108
chr3133482562133482616E06810335
chr3133482923133483028E06810696
chr3133483054133483594E06810827
chr3133431016133431089E069-41138
chr3133436424133436504E069-35723
chr3133461397133461916E069-10311
chr3133461945133462055E069-10172
chr3133464069133464119E069-8108
chr3133473014133473073E069787
chr3133473315133473659E0691088
chr3133476260133476458E0694033
chr3133482562133482616E06910335
chr3133482923133483028E06910696
chr3133483054133483594E06910827
chr3133483998133484070E06911771
chr3133484337133484387E06912110
chr3133482923133483028E07010696
chr3133483054133483594E07010827
chr3133431016133431089E071-41138
chr3133436424133436504E071-35723
chr3133461397133461916E071-10311
chr3133461945133462055E071-10172
chr3133464069133464119E071-8108
chr3133473014133473073E071787
chr3133473315133473659E0711088
chr3133482562133482616E07110335
chr3133482923133483028E07110696
chr3133483054133483594E07110827
chr3133483998133484070E07111771
chr3133484337133484387E07112110
chr3133431016133431089E072-41138
chr3133461397133461916E072-10311
chr3133461945133462055E072-10172
chr3133464069133464119E072-8108
chr3133464448133464526E072-7701
chr3133473014133473073E072787
chr3133482923133483028E07210696
chr3133483054133483594E07210827
chr3133483998133484070E07211771
chr3133484337133484387E07212110
chr3133436424133436504E073-35723
chr3133461397133461916E073-10311
chr3133461945133462055E073-10172
chr3133464448133464526E073-7701
chr3133482923133483028E07310696
chr3133483054133483594E07310827
chr3133431016133431089E074-41138
chr3133436424133436504E074-35723
chr3133461397133461916E074-10311
chr3133461945133462055E074-10172
chr3133464069133464119E074-8108
chr3133473014133473073E074787
chr3133473315133473659E0741088
chr3133476260133476458E0744033
chr3133482562133482616E07410335
chr3133482923133483028E07410696
chr3133483054133483594E07410827
chr3133483998133484070E07411771
chr3133484337133484387E07412110
chr3133464448133464526E082-7701









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-7075
chr3133465195133465439E067-6788
chr3133465691133465761E067-6466
chr3133468272133468322E067-3905
chr3133464975133465152E068-7075
chr3133465195133465439E068-6788
chr3133465691133465761E068-6466
chr3133468272133468322E068-3905
chr3133464975133465152E069-7075
chr3133465195133465439E069-6788
chr3133465691133465761E069-6466
chr3133468272133468322E069-3905
chr3133465195133465439E070-6788
chr3133464975133465152E071-7075
chr3133465195133465439E071-6788
chr3133465691133465761E071-6466
chr3133468272133468322E071-3905
chr3133464975133465152E072-7075
chr3133465195133465439E072-6788
chr3133465691133465761E072-6466
chr3133468272133468322E072-3905
chr3133464975133465152E073-7075
chr3133465195133465439E073-6788
chr3133465691133465761E073-6466
chr3133468272133468322E073-3905
chr3133464975133465152E074-7075
chr3133465195133465439E074-6788
chr3133465691133465761E074-6466
chr3133468272133468322E074-3905
chr3133464975133465152E081-7075
chr3133464975133465152E082-7075
chr3133465195133465439E082-6788