rs8177252

Homo sapiens
C>A / C>G
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0309 (9245/29828,GnomAD)
A=0306 (8927/29118,TOPMED)
A=0349 (1748/5008,1000G)
A=0332 (1281/3854,ALSPAC)
A=0335 (1241/3708,TWINSUK)
chr3:133761330 (GRCh38.p7) (3q22.1)
AD
GWASdb2
2   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.133761330C>A
GRCh38.p7 chr 3NC_000003.12:g.133761330C>G
GRCh37.p13 chr 3NC_000003.11:g.133480174C>A
GRCh37.p13 chr 3NC_000003.11:g.133480174C>G
TF RefSeqGeneNG_013080.1:g.20198C>A
TF RefSeqGeneNG_013080.1:g.20198C>G
LOC100421637 pseudogeneNG_025745.1:g.1131C>A
LOC100421637 pseudogeneNG_025745.1:g.1131C>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
1000GenomesAfricanSub1322C=0.785A=0.215
1000GenomesAmericanSub694C=0.610A=0.390
1000GenomesEast AsianSub1008C=0.568A=0.432
1000GenomesEuropeSub1006C=0.652A=0.348
1000GenomesGlobalStudy-wide5008C=0.651A=0.349
1000GenomesSouth AsianSub978C=0.590A=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.668A=0.332
The Genome Aggregation DatabaseAfricanSub8690C=0.755A=0.245
The Genome Aggregation DatabaseAmericanSub834C=0.530A=0.470
The Genome Aggregation DatabaseEast AsianSub1610C=0.602A=0.398
The Genome Aggregation DatabaseEuropeSub18392C=0.673A=0.326
The Genome Aggregation DatabaseGlobalStudy-wide29828C=0.690A=0.309
The Genome Aggregation DatabaseOtherSub302C=0.740A=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.693A=0.306
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.665A=0.335
PMID Title Author Journal
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet
21483845Genome-wide association study identifies genetic loci associated with iron deficiency.McLaren CEPLoS One

P-Value

SNP ID p-value Traits Study
rs81772522.56E-13alcohol consumption21665994

eQTL of rs8177252 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 rs8177252 in Fetal Brain

Probe ID Position Gene beta p-value
cg08048268chr3:133502702-0.170175114228212.3599e-39
cg16414030chr3:133502952-0.114661745953699.0636e-38
cg01448562chr3:133502909-0.07321296204275093.0343e-36
cg16275903chr3:133524006SRPRB0.06858471210659229.4108e-28
cg11941060chr3:133502564-0.07880082101822326.9791e-24
cg08439880chr3:133502540-0.08515923212034181.2892e-23
cg20276088chr3:133502917-0.04234136902817872.9867e-23

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 )
chr3133436424133436504E067-46366
chr3133461397133461916E067-20954
chr3133461945133462055E067-20815
chr3133464069133464119E067-18751
chr3133464448133464526E067-18344
chr3133482923133483028E06753
chr3133483054133483594E067184
chr3133483998133484070E0671128
chr3133436424133436504E068-46366
chr3133464069133464119E068-18751
chr3133482562133482616E068-254
chr3133482923133483028E06853
chr3133483054133483594E068184
chr3133436424133436504E069-46366
chr3133461397133461916E069-20954
chr3133461945133462055E069-20815
chr3133464069133464119E069-18751
chr3133473014133473073E069-9797
chr3133473315133473659E069-9211
chr3133476260133476458E069-6412
chr3133482562133482616E069-254
chr3133482923133483028E06953
chr3133483054133483594E069184
chr3133483998133484070E0691128
chr3133484337133484387E0691467
chr3133482923133483028E07053
chr3133483054133483594E070184
chr3133436424133436504E071-46366
chr3133461397133461916E071-20954
chr3133461945133462055E071-20815
chr3133464069133464119E071-18751
chr3133473014133473073E071-9797
chr3133473315133473659E071-9211
chr3133482562133482616E071-254
chr3133482923133483028E07153
chr3133483054133483594E071184
chr3133483998133484070E0711128
chr3133484337133484387E0711467
chr3133461397133461916E072-20954
chr3133461945133462055E072-20815
chr3133464069133464119E072-18751
chr3133464448133464526E072-18344
chr3133473014133473073E072-9797
chr3133482923133483028E07253
chr3133483054133483594E072184
chr3133483998133484070E0721128
chr3133484337133484387E0721467
chr3133436424133436504E073-46366
chr3133461397133461916E073-20954
chr3133461945133462055E073-20815
chr3133464448133464526E073-18344
chr3133482923133483028E07353
chr3133483054133483594E073184
chr3133436424133436504E074-46366
chr3133461397133461916E074-20954
chr3133461945133462055E074-20815
chr3133464069133464119E074-18751
chr3133473014133473073E074-9797
chr3133473315133473659E074-9211
chr3133476260133476458E074-6412
chr3133482562133482616E074-254
chr3133482923133483028E07453
chr3133483054133483594E074184
chr3133483998133484070E0741128
chr3133484337133484387E0741467
chr3133526132133526214E08143262
chr3133464448133464526E082-18344










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-17718
chr3133465195133465439E067-17431
chr3133465691133465761E067-17109
chr3133468272133468322E067-14548
chr3133524082133525550E06741212
chr3133525588133525634E06742718
chr3133464975133465152E068-17718
chr3133465195133465439E068-17431
chr3133465691133465761E068-17109
chr3133468272133468322E068-14548
chr3133524082133525550E06841212
chr3133525588133525634E06842718
chr3133464975133465152E069-17718
chr3133465195133465439E069-17431
chr3133465691133465761E069-17109
chr3133468272133468322E069-14548
chr3133524082133525550E06941212
chr3133465195133465439E070-17431
chr3133524082133525550E07041212
chr3133525588133525634E07042718
chr3133464975133465152E071-17718
chr3133465195133465439E071-17431
chr3133465691133465761E071-17109
chr3133468272133468322E071-14548
chr3133524082133525550E07141212
chr3133525588133525634E07142718
chr3133464975133465152E072-17718
chr3133465195133465439E072-17431
chr3133465691133465761E072-17109
chr3133468272133468322E072-14548
chr3133524082133525550E07241212
chr3133525588133525634E07242718
chr3133464975133465152E073-17718
chr3133465195133465439E073-17431
chr3133465691133465761E073-17109
chr3133468272133468322E073-14548
chr3133524082133525550E07341212
chr3133525588133525634E07342718
chr3133464975133465152E074-17718
chr3133465195133465439E074-17431
chr3133465691133465761E074-17109
chr3133468272133468322E074-14548
chr3133524082133525550E07441212
chr3133525588133525634E07442718
chr3133464975133465152E081-17718
chr3133524082133525550E08141212
chr3133525588133525634E08142718
chr3133464975133465152E082-17718
chr3133465195133465439E082-17431
chr3133524082133525550E08241212
chr3133525588133525634E08242718