rs8177197

Homo sapiens
G>A
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0270 (8089/29924,GnomAD)
A=0244 (7115/29118,TOPMED)
A=0304 (1524/5008,1000G)
A=0322 (1241/3854,ALSPAC)
A=0311 (1153/3708,TWINSUK)
chr3:133750686 (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.133750686G>A
GRCh37.p13 chr 3NC_000003.11:g.133469530G>A
TF RefSeqGeneNG_013080.1:g.9554G>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=0.912A=0.088
1000GenomesAmericanSub694G=0.620A=0.380
1000GenomesEast AsianSub1008G=0.576A=0.424
1000GenomesEuropeSub1006G=0.675A=0.325
1000GenomesGlobalStudy-wide5008G=0.696A=0.304
1000GenomesSouth AsianSub978G=0.600A=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.678A=0.322
The Genome Aggregation DatabaseAfricanSub8720G=0.863A=0.138
The Genome Aggregation DatabaseAmericanSub836G=0.560A=0.440
The Genome Aggregation DatabaseEast AsianSub1614G=0.612A=0.388
The Genome Aggregation DatabaseEuropeSub18452G=0.684A=0.316
The Genome Aggregation DatabaseGlobalStudy-wide29924G=0.729A=0.270
The Genome Aggregation DatabaseOtherSub302G=0.790A=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.755A=0.244
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.689A=0.311
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
rs81771975.24E-12alcohol consumption21665994

eQTL of rs8177197 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 rs8177197 in Fetal Brain

Probe ID Position Gene beta p-value
cg08048268chr3:133502702-0.1517558540777165.7911e-27
cg01448562chr3:133502909-0.06655181713560731.4511e-26
cg16414030chr3:133502952-0.1028806428390871.5892e-26
cg16275903chr3:133524006SRPRB0.06293338241147291.3679e-21
cg20276088chr3:133502917-0.04017495365513146.2463e-20
cg08439880chr3:133502540-0.0754490097635693.3472e-17
cg11941060chr3:133502564-0.06919714773591945.0614e-17

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 )
chr3133431016133431089E067-38441
chr3133436424133436504E067-33026
chr3133461397133461916E067-7614
chr3133461945133462055E067-7475
chr3133464069133464119E067-5411
chr3133464448133464526E067-5004
chr3133482923133483028E06713393
chr3133483054133483594E06713524
chr3133483998133484070E06714468
chr3133436424133436504E068-33026
chr3133464069133464119E068-5411
chr3133482562133482616E06813032
chr3133482923133483028E06813393
chr3133483054133483594E06813524
chr3133431016133431089E069-38441
chr3133436424133436504E069-33026
chr3133461397133461916E069-7614
chr3133461945133462055E069-7475
chr3133464069133464119E069-5411
chr3133473014133473073E0693484
chr3133473315133473659E0693785
chr3133476260133476458E0696730
chr3133482562133482616E06913032
chr3133482923133483028E06913393
chr3133483054133483594E06913524
chr3133483998133484070E06914468
chr3133484337133484387E06914807
chr3133482923133483028E07013393
chr3133483054133483594E07013524
chr3133431016133431089E071-38441
chr3133436424133436504E071-33026
chr3133461397133461916E071-7614
chr3133461945133462055E071-7475
chr3133464069133464119E071-5411
chr3133473014133473073E0713484
chr3133473315133473659E0713785
chr3133482562133482616E07113032
chr3133482923133483028E07113393
chr3133483054133483594E07113524
chr3133483998133484070E07114468
chr3133484337133484387E07114807
chr3133431016133431089E072-38441
chr3133461397133461916E072-7614
chr3133461945133462055E072-7475
chr3133464069133464119E072-5411
chr3133464448133464526E072-5004
chr3133473014133473073E0723484
chr3133482923133483028E07213393
chr3133483054133483594E07213524
chr3133483998133484070E07214468
chr3133484337133484387E07214807
chr3133436424133436504E073-33026
chr3133461397133461916E073-7614
chr3133461945133462055E073-7475
chr3133464448133464526E073-5004
chr3133482923133483028E07313393
chr3133483054133483594E07313524
chr3133431016133431089E074-38441
chr3133436424133436504E074-33026
chr3133461397133461916E074-7614
chr3133461945133462055E074-7475
chr3133464069133464119E074-5411
chr3133473014133473073E0743484
chr3133473315133473659E0743785
chr3133476260133476458E0746730
chr3133482562133482616E07413032
chr3133482923133483028E07413393
chr3133483054133483594E07413524
chr3133483998133484070E07414468
chr3133484337133484387E07414807
chr3133464448133464526E082-5004









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-4378
chr3133465195133465439E067-4091
chr3133465691133465761E067-3769
chr3133468272133468322E067-1208
chr3133464975133465152E068-4378
chr3133465195133465439E068-4091
chr3133465691133465761E068-3769
chr3133468272133468322E068-1208
chr3133464975133465152E069-4378
chr3133465195133465439E069-4091
chr3133465691133465761E069-3769
chr3133468272133468322E069-1208
chr3133465195133465439E070-4091
chr3133464975133465152E071-4378
chr3133465195133465439E071-4091
chr3133465691133465761E071-3769
chr3133468272133468322E071-1208
chr3133464975133465152E072-4378
chr3133465195133465439E072-4091
chr3133465691133465761E072-3769
chr3133468272133468322E072-1208
chr3133464975133465152E073-4378
chr3133465195133465439E073-4091
chr3133465691133465761E073-3769
chr3133468272133468322E073-1208
chr3133464975133465152E074-4378
chr3133465195133465439E074-4091
chr3133465691133465761E074-3769
chr3133468272133468322E074-1208
chr3133464975133465152E081-4378
chr3133464975133465152E082-4378
chr3133465195133465439E082-4091