rs6785596

Homo sapiens
T>A
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0084 (2519/29926,GnomAD)
A=0085 (2474/29118,TOPMED)
A=0096 (482/5008,1000G)
A=0045 (173/3854,ALSPAC)
A=0037 (138/3708,TWINSUK)
chr3:133747613 (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.133747613T>A
GRCh37.p13 chr 3NC_000003.11:g.133466457T>A
TF RefSeqGeneNG_013080.1:g.6481T>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
1000GenomesAfricanSub1322T=0.841A=0.159
1000GenomesAmericanSub694T=0.940A=0.060
1000GenomesEast AsianSub1008T=0.947A=0.053
1000GenomesEuropeSub1006T=0.943A=0.057
1000GenomesGlobalStudy-wide5008T=0.904A=0.096
1000GenomesSouth AsianSub978T=0.870A=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.955A=0.045
The Genome Aggregation DatabaseAfricanSub8712T=0.865A=0.135
The Genome Aggregation DatabaseAmericanSub838T=0.960A=0.040
The Genome Aggregation DatabaseEast AsianSub1616T=0.938A=0.062
The Genome Aggregation DatabaseEuropeSub18458T=0.935A=0.064
The Genome Aggregation DatabaseGlobalStudy-wide29926T=0.915A=0.084
The Genome Aggregation DatabaseOtherSub302T=0.940A=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.915A=0.085
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.963A=0.037
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
rs67855961.53E-15alcohol consumption21665994

eQTL of rs6785596 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 rs6785596 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 )
chr3133431016133431089E067-35368
chr3133436424133436504E067-29953
chr3133461397133461916E067-4541
chr3133461945133462055E067-4402
chr3133464069133464119E067-2338
chr3133464448133464526E067-1931
chr3133482923133483028E06716466
chr3133483054133483594E06716597
chr3133483998133484070E06717541
chr3133436424133436504E068-29953
chr3133464069133464119E068-2338
chr3133482562133482616E06816105
chr3133482923133483028E06816466
chr3133483054133483594E06816597
chr3133431016133431089E069-35368
chr3133436424133436504E069-29953
chr3133461397133461916E069-4541
chr3133461945133462055E069-4402
chr3133464069133464119E069-2338
chr3133473014133473073E0696557
chr3133473315133473659E0696858
chr3133476260133476458E0699803
chr3133482562133482616E06916105
chr3133482923133483028E06916466
chr3133483054133483594E06916597
chr3133483998133484070E06917541
chr3133484337133484387E06917880
chr3133482923133483028E07016466
chr3133483054133483594E07016597
chr3133431016133431089E071-35368
chr3133436424133436504E071-29953
chr3133461397133461916E071-4541
chr3133461945133462055E071-4402
chr3133464069133464119E071-2338
chr3133473014133473073E0716557
chr3133473315133473659E0716858
chr3133482562133482616E07116105
chr3133482923133483028E07116466
chr3133483054133483594E07116597
chr3133483998133484070E07117541
chr3133484337133484387E07117880
chr3133431016133431089E072-35368
chr3133461397133461916E072-4541
chr3133461945133462055E072-4402
chr3133464069133464119E072-2338
chr3133464448133464526E072-1931
chr3133473014133473073E0726557
chr3133482923133483028E07216466
chr3133483054133483594E07216597
chr3133483998133484070E07217541
chr3133484337133484387E07217880
chr3133436424133436504E073-29953
chr3133461397133461916E073-4541
chr3133461945133462055E073-4402
chr3133464448133464526E073-1931
chr3133482923133483028E07316466
chr3133483054133483594E07316597
chr3133431016133431089E074-35368
chr3133436424133436504E074-29953
chr3133461397133461916E074-4541
chr3133461945133462055E074-4402
chr3133464069133464119E074-2338
chr3133473014133473073E0746557
chr3133473315133473659E0746858
chr3133476260133476458E0749803
chr3133482562133482616E07416105
chr3133482923133483028E07416466
chr3133483054133483594E07416597
chr3133483998133484070E07417541
chr3133484337133484387E07417880
chr3133464448133464526E082-1931









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-1305
chr3133465195133465439E067-1018
chr3133465691133465761E067-696
chr3133468272133468322E0671815
chr3133464975133465152E068-1305
chr3133465195133465439E068-1018
chr3133465691133465761E068-696
chr3133468272133468322E0681815
chr3133464975133465152E069-1305
chr3133465195133465439E069-1018
chr3133465691133465761E069-696
chr3133468272133468322E0691815
chr3133465195133465439E070-1018
chr3133464975133465152E071-1305
chr3133465195133465439E071-1018
chr3133465691133465761E071-696
chr3133468272133468322E0711815
chr3133464975133465152E072-1305
chr3133465195133465439E072-1018
chr3133465691133465761E072-696
chr3133468272133468322E0721815
chr3133464975133465152E073-1305
chr3133465195133465439E073-1018
chr3133465691133465761E073-696
chr3133468272133468322E0731815
chr3133464975133465152E074-1305
chr3133465195133465439E074-1018
chr3133465691133465761E074-696
chr3133468272133468322E0741815
chr3133464975133465152E081-1305
chr3133464975133465152E082-1305
chr3133465195133465439E082-1018