rs6775042

Homo sapiens
G>T
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0465 (13545/29118,TOPMED)
T=0425 (12064/28356,GnomAD)
T=0490 (2456/5008,1000G)
T=0334 (1286/3854,ALSPAC)
T=0319 (1184/3708,TWINSUK)
chr3:133723401 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
74 Enhancers around
60 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133723401G>T
GRCh37.p13 chr 3NC_000003.11:g.133442245G>T

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
1000GenomesAfricanSub1322G=0.374T=0.626
1000GenomesAmericanSub694G=0.570T=0.430
1000GenomesEast AsianSub1008G=0.525T=0.475
1000GenomesEuropeSub1006G=0.667T=0.333
1000GenomesGlobalStudy-wide5008G=0.510T=0.490
1000GenomesSouth AsianSub978G=0.480T=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.666T=0.334
The Genome Aggregation DatabaseAfricanSub8552G=0.393T=0.607
The Genome Aggregation DatabaseAmericanSub716G=0.500T=0.500
The Genome Aggregation DatabaseEast AsianSub1612G=0.548T=0.452
The Genome Aggregation DatabaseEuropeSub17176G=0.667T=0.332
The Genome Aggregation DatabaseGlobalStudy-wide28356G=0.574T=0.425
The Genome Aggregation DatabaseOtherSub300G=0.740T=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.534T=0.465
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.681T=0.319
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
rs67750423.85E-12alcohol consumption21665994

eQTL of rs6775042 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 rs6775042 in Fetal Brain

Probe ID Position Gene beta p-value
cg01448562chr3:133502909-0.04887198538253041.4183e-16
cg16275903chr3:133524006SRPRB0.04901608066331357.9473e-16
cg08048268chr3:133502702-0.1073065882398992.0431e-15
cg08439880chr3:133502540-0.05978819357090382.2812e-13
cg16414030chr3:133502952-0.06779362665809884.4828e-13
cg11941060chr3:133502564-0.05024582881564534.5675e-11
cg20276088chr3:133502917-0.02594911950762194.9804e-10

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 )
chr3133395447133395540E067-46705
chr3133431016133431089E067-11156
chr3133436424133436504E067-5741
chr3133461397133461916E06719152
chr3133461945133462055E06719700
chr3133464069133464119E06721824
chr3133464448133464526E06722203
chr3133482923133483028E06740678
chr3133483054133483594E06740809
chr3133483998133484070E06741753
chr3133436424133436504E068-5741
chr3133464069133464119E06821824
chr3133482562133482616E06840317
chr3133482923133483028E06840678
chr3133483054133483594E06840809
chr3133431016133431089E069-11156
chr3133436424133436504E069-5741
chr3133461397133461916E06919152
chr3133461945133462055E06919700
chr3133464069133464119E06921824
chr3133473014133473073E06930769
chr3133473315133473659E06931070
chr3133476260133476458E06934015
chr3133482562133482616E06940317
chr3133482923133483028E06940678
chr3133483054133483594E06940809
chr3133483998133484070E06941753
chr3133484337133484387E06942092
chr3133482923133483028E07040678
chr3133483054133483594E07040809
chr3133395447133395540E071-46705
chr3133395561133395628E071-46617
chr3133431016133431089E071-11156
chr3133436424133436504E071-5741
chr3133461397133461916E07119152
chr3133461945133462055E07119700
chr3133464069133464119E07121824
chr3133473014133473073E07130769
chr3133473315133473659E07131070
chr3133482562133482616E07140317
chr3133482923133483028E07140678
chr3133483054133483594E07140809
chr3133483998133484070E07141753
chr3133484337133484387E07142092
chr3133431016133431089E072-11156
chr3133461397133461916E07219152
chr3133461945133462055E07219700
chr3133464069133464119E07221824
chr3133464448133464526E07222203
chr3133473014133473073E07230769
chr3133482923133483028E07240678
chr3133483054133483594E07240809
chr3133483998133484070E07241753
chr3133484337133484387E07242092
chr3133436424133436504E073-5741
chr3133461397133461916E07319152
chr3133461945133462055E07319700
chr3133464448133464526E07322203
chr3133482923133483028E07340678
chr3133483054133483594E07340809
chr3133431016133431089E074-11156
chr3133436424133436504E074-5741
chr3133461397133461916E07419152
chr3133461945133462055E07419700
chr3133464069133464119E07421824
chr3133473014133473073E07430769
chr3133473315133473659E07431070
chr3133476260133476458E07434015
chr3133482562133482616E07440317
chr3133482923133483028E07440678
chr3133483054133483594E07440809
chr3133483998133484070E07441753
chr3133484337133484387E07442092
chr3133464448133464526E08222203









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133392888133393030E067-49215
chr3133393091133393483E067-48762
chr3133393533133393598E067-48647
chr3133393653133393755E067-48490
chr3133464975133465152E06722730
chr3133465195133465439E06722950
chr3133465691133465761E06723446
chr3133468272133468322E06726027
chr3133392888133393030E068-49215
chr3133393091133393483E068-48762
chr3133393533133393598E068-48647
chr3133393653133393755E068-48490
chr3133464975133465152E06822730
chr3133465195133465439E06822950
chr3133465691133465761E06823446
chr3133468272133468322E06826027
chr3133392888133393030E069-49215
chr3133393091133393483E069-48762
chr3133393533133393598E069-48647
chr3133393653133393755E069-48490
chr3133464975133465152E06922730
chr3133465195133465439E06922950
chr3133465691133465761E06923446
chr3133468272133468322E06926027
chr3133465195133465439E07022950
chr3133393091133393483E071-48762
chr3133393533133393598E071-48647
chr3133393653133393755E071-48490
chr3133464975133465152E07122730
chr3133465195133465439E07122950
chr3133465691133465761E07123446
chr3133468272133468322E07126027
chr3133392888133393030E072-49215
chr3133393091133393483E072-48762
chr3133393533133393598E072-48647
chr3133393653133393755E072-48490
chr3133464975133465152E07222730
chr3133465195133465439E07222950
chr3133465691133465761E07223446
chr3133468272133468322E07226027
chr3133392888133393030E073-49215
chr3133393091133393483E073-48762
chr3133393533133393598E073-48647
chr3133393653133393755E073-48490
chr3133464975133465152E07322730
chr3133465195133465439E07322950
chr3133465691133465761E07323446
chr3133468272133468322E07326027
chr3133393091133393483E074-48762
chr3133393533133393598E074-48647
chr3133393653133393755E074-48490
chr3133464975133465152E07422730
chr3133465195133465439E07422950
chr3133465691133465761E07423446
chr3133468272133468322E07426027
chr3133464975133465152E08122730
chr3133393091133393483E082-48762
chr3133393533133393598E082-48647
chr3133464975133465152E08222730
chr3133465195133465439E08222950