rs8177313

Homo sapiens
T>G
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0053 (1595/29992,GnomAD)
G=0033 (980/29118,TOPMED)
G=0060 (301/5008,1000G)
G=0054 (207/3854,ALSPAC)
G=0047 (173/3708,TWINSUK)
chr3:133745258 (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.133745258T>G
GRCh37.p13 chr 3NC_000003.11:g.133464102T>G
TF RefSeqGeneNG_013080.1:g.4126T>G

Gene: TF, transferrin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TF transcript variant 1NM_001063.3:c.N/AGenic Upstream Transcript 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
1000GenomesAfricanSub1322T=0.983G=0.017
1000GenomesAmericanSub694T=0.950G=0.050
1000GenomesEast AsianSub1008T=0.947G=0.053
1000GenomesEuropeSub1006T=0.935G=0.065
1000GenomesGlobalStudy-wide5008T=0.940G=0.060
1000GenomesSouth AsianSub978T=0.870G=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.946G=0.054
The Genome Aggregation DatabaseAfricanSub8734T=0.982G=0.018
The Genome Aggregation DatabaseAmericanSub838T=0.960G=0.040
The Genome Aggregation DatabaseEast AsianSub1620T=0.936G=0.064
The Genome Aggregation DatabaseEuropeSub18500T=0.930G=0.069
The Genome Aggregation DatabaseGlobalStudy-wide29992T=0.946G=0.053
The Genome Aggregation DatabaseOtherSub300T=0.940G=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.966G=0.033
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.953G=0.047
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
rs81773131.65E-13alcohol consumption21665994

eQTL of rs8177313 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 rs8177313 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 )
chr3133431016133431089E067-33013
chr3133436424133436504E067-27598
chr3133461397133461916E067-2186
chr3133461945133462055E067-2047
chr3133464069133464119E0670
chr3133464448133464526E067346
chr3133482923133483028E06718821
chr3133483054133483594E06718952
chr3133483998133484070E06719896
chr3133436424133436504E068-27598
chr3133464069133464119E0680
chr3133482562133482616E06818460
chr3133482923133483028E06818821
chr3133483054133483594E06818952
chr3133431016133431089E069-33013
chr3133436424133436504E069-27598
chr3133461397133461916E069-2186
chr3133461945133462055E069-2047
chr3133464069133464119E0690
chr3133473014133473073E0698912
chr3133473315133473659E0699213
chr3133476260133476458E06912158
chr3133482562133482616E06918460
chr3133482923133483028E06918821
chr3133483054133483594E06918952
chr3133483998133484070E06919896
chr3133484337133484387E06920235
chr3133482923133483028E07018821
chr3133483054133483594E07018952
chr3133431016133431089E071-33013
chr3133436424133436504E071-27598
chr3133461397133461916E071-2186
chr3133461945133462055E071-2047
chr3133464069133464119E0710
chr3133473014133473073E0718912
chr3133473315133473659E0719213
chr3133482562133482616E07118460
chr3133482923133483028E07118821
chr3133483054133483594E07118952
chr3133483998133484070E07119896
chr3133484337133484387E07120235
chr3133431016133431089E072-33013
chr3133461397133461916E072-2186
chr3133461945133462055E072-2047
chr3133464069133464119E0720
chr3133464448133464526E072346
chr3133473014133473073E0728912
chr3133482923133483028E07218821
chr3133483054133483594E07218952
chr3133483998133484070E07219896
chr3133484337133484387E07220235
chr3133436424133436504E073-27598
chr3133461397133461916E073-2186
chr3133461945133462055E073-2047
chr3133464448133464526E073346
chr3133482923133483028E07318821
chr3133483054133483594E07318952
chr3133431016133431089E074-33013
chr3133436424133436504E074-27598
chr3133461397133461916E074-2186
chr3133461945133462055E074-2047
chr3133464069133464119E0740
chr3133473014133473073E0748912
chr3133473315133473659E0749213
chr3133476260133476458E07412158
chr3133482562133482616E07418460
chr3133482923133483028E07418821
chr3133483054133483594E07418952
chr3133483998133484070E07419896
chr3133484337133484387E07420235
chr3133464448133464526E082346









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067873
chr3133465195133465439E0671093
chr3133465691133465761E0671589
chr3133468272133468322E0674170
chr3133464975133465152E068873
chr3133465195133465439E0681093
chr3133465691133465761E0681589
chr3133468272133468322E0684170
chr3133464975133465152E069873
chr3133465195133465439E0691093
chr3133465691133465761E0691589
chr3133468272133468322E0694170
chr3133465195133465439E0701093
chr3133464975133465152E071873
chr3133465195133465439E0711093
chr3133465691133465761E0711589
chr3133468272133468322E0714170
chr3133464975133465152E072873
chr3133465195133465439E0721093
chr3133465691133465761E0721589
chr3133468272133468322E0724170
chr3133464975133465152E073873
chr3133465195133465439E0731093
chr3133465691133465761E0731589
chr3133468272133468322E0734170
chr3133464975133465152E074873
chr3133465195133465439E0741093
chr3133465691133465761E0741589
chr3133468272133468322E0744170
chr3133464975133465152E081873
chr3133464975133465152E082873
chr3133465195133465439E0821093