rs6796795

Homo sapiens
A>G
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0084 (2542/29924,GnomAD)
G=0085 (2497/29118,TOPMED)
G=0096 (483/5008,1000G)
G=0046 (177/3854,ALSPAC)
G=0038 (141/3708,TWINSUK)
chr3:133747378 (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.133747378A>G
GRCh37.p13 chr 3NC_000003.11:g.133466222A>G
TF RefSeqGeneNG_013080.1:g.6246A>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
1000GenomesAfricanSub1322A=0.840G=0.160
1000GenomesAmericanSub694A=0.940G=0.060
1000GenomesEast AsianSub1008A=0.947G=0.053
1000GenomesEuropeSub1006A=0.944G=0.056
1000GenomesGlobalStudy-wide5008A=0.904G=0.096
1000GenomesSouth AsianSub978A=0.870G=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.954G=0.046
The Genome Aggregation DatabaseAfricanSub8710A=0.865G=0.135
The Genome Aggregation DatabaseAmericanSub836A=0.960G=0.040
The Genome Aggregation DatabaseEast AsianSub1622A=0.937G=0.063
The Genome Aggregation DatabaseEuropeSub18454A=0.934G=0.065
The Genome Aggregation DatabaseGlobalStudy-wide29924A=0.915G=0.084
The Genome Aggregation DatabaseOtherSub302A=0.940G=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.914G=0.085
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.962G=0.038
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
rs67967951.69E-15alcohol consumption21665994

eQTL of rs6796795 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 rs6796795 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 )
chr3133431016133431089E067-35133
chr3133436424133436504E067-29718
chr3133461397133461916E067-4306
chr3133461945133462055E067-4167
chr3133464069133464119E067-2103
chr3133464448133464526E067-1696
chr3133482923133483028E06716701
chr3133483054133483594E06716832
chr3133483998133484070E06717776
chr3133436424133436504E068-29718
chr3133464069133464119E068-2103
chr3133482562133482616E06816340
chr3133482923133483028E06816701
chr3133483054133483594E06816832
chr3133431016133431089E069-35133
chr3133436424133436504E069-29718
chr3133461397133461916E069-4306
chr3133461945133462055E069-4167
chr3133464069133464119E069-2103
chr3133473014133473073E0696792
chr3133473315133473659E0697093
chr3133476260133476458E06910038
chr3133482562133482616E06916340
chr3133482923133483028E06916701
chr3133483054133483594E06916832
chr3133483998133484070E06917776
chr3133484337133484387E06918115
chr3133482923133483028E07016701
chr3133483054133483594E07016832
chr3133431016133431089E071-35133
chr3133436424133436504E071-29718
chr3133461397133461916E071-4306
chr3133461945133462055E071-4167
chr3133464069133464119E071-2103
chr3133473014133473073E0716792
chr3133473315133473659E0717093
chr3133482562133482616E07116340
chr3133482923133483028E07116701
chr3133483054133483594E07116832
chr3133483998133484070E07117776
chr3133484337133484387E07118115
chr3133431016133431089E072-35133
chr3133461397133461916E072-4306
chr3133461945133462055E072-4167
chr3133464069133464119E072-2103
chr3133464448133464526E072-1696
chr3133473014133473073E0726792
chr3133482923133483028E07216701
chr3133483054133483594E07216832
chr3133483998133484070E07217776
chr3133484337133484387E07218115
chr3133436424133436504E073-29718
chr3133461397133461916E073-4306
chr3133461945133462055E073-4167
chr3133464448133464526E073-1696
chr3133482923133483028E07316701
chr3133483054133483594E07316832
chr3133431016133431089E074-35133
chr3133436424133436504E074-29718
chr3133461397133461916E074-4306
chr3133461945133462055E074-4167
chr3133464069133464119E074-2103
chr3133473014133473073E0746792
chr3133473315133473659E0747093
chr3133476260133476458E07410038
chr3133482562133482616E07416340
chr3133482923133483028E07416701
chr3133483054133483594E07416832
chr3133483998133484070E07417776
chr3133484337133484387E07418115
chr3133464448133464526E082-1696









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-1070
chr3133465195133465439E067-783
chr3133465691133465761E067-461
chr3133468272133468322E0672050
chr3133464975133465152E068-1070
chr3133465195133465439E068-783
chr3133465691133465761E068-461
chr3133468272133468322E0682050
chr3133464975133465152E069-1070
chr3133465195133465439E069-783
chr3133465691133465761E069-461
chr3133468272133468322E0692050
chr3133465195133465439E070-783
chr3133464975133465152E071-1070
chr3133465195133465439E071-783
chr3133465691133465761E071-461
chr3133468272133468322E0712050
chr3133464975133465152E072-1070
chr3133465195133465439E072-783
chr3133465691133465761E072-461
chr3133468272133468322E0722050
chr3133464975133465152E073-1070
chr3133465195133465439E073-783
chr3133465691133465761E073-461
chr3133468272133468322E0732050
chr3133464975133465152E074-1070
chr3133465195133465439E074-783
chr3133465691133465761E074-461
chr3133468272133468322E0742050
chr3133464975133465152E081-1070
chr3133464975133465152E082-1070
chr3133465195133465439E082-783