rs6439431

Homo sapiens
A>C
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0380 (11391/29906,GnomAD)
C=0404 (11787/29118,TOPMED)
C=0448 (2242/5008,1000G)
C=0334 (1286/3854,ALSPAC)
C=0319 (1182/3708,TWINSUK)
chr3:133729265 (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.133729265A>C
GRCh37.p13 chr 3NC_000003.11:g.133448109A>C

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
1000GenomesAfricanSub1322A=0.528C=0.472
1000GenomesAmericanSub694A=0.570C=0.430
1000GenomesEast AsianSub1008A=0.529C=0.471
1000GenomesEuropeSub1006A=0.667C=0.333
1000GenomesGlobalStudy-wide5008A=0.552C=0.448
1000GenomesSouth AsianSub978A=0.480C=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.666C=0.334
The Genome Aggregation DatabaseAfricanSub8700A=0.520C=0.480
The Genome Aggregation DatabaseAmericanSub838A=0.520C=0.480
The Genome Aggregation DatabaseEast AsianSub1616A=0.549C=0.451
The Genome Aggregation DatabaseEuropeSub18450A=0.674C=0.325
The Genome Aggregation DatabaseGlobalStudy-wide29906A=0.619C=0.380
The Genome Aggregation DatabaseOtherSub302A=0.750C=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.595C=0.404
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.681C=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
rs64394313.78E-12alcohol consumption21665994

eQTL of rs6439431 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 rs6439431 in Fetal Brain

Probe ID Position Gene beta p-value
cg01448562chr3:133502909-0.05145551427241561.6260e-18
cg08048268chr3:133502702-0.1146130791254889.4373e-18
cg08439880chr3:133502540-0.06459506999741061.0983e-15
cg16275903chr3:133524006SRPRB0.04891047804455651.2598e-15
cg16414030chr3:133502952-0.07302065212571213.2016e-15
cg11941060chr3:133502564-0.05335237106339642.0655e-12
cg20276088chr3:133502917-0.0275021392905043.6091e-11

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 )
chr3133431016133431089E067-17020
chr3133436424133436504E067-11605
chr3133461397133461916E06713288
chr3133461945133462055E06713836
chr3133464069133464119E06715960
chr3133464448133464526E06716339
chr3133482923133483028E06734814
chr3133483054133483594E06734945
chr3133483998133484070E06735889
chr3133436424133436504E068-11605
chr3133464069133464119E06815960
chr3133482562133482616E06834453
chr3133482923133483028E06834814
chr3133483054133483594E06834945
chr3133431016133431089E069-17020
chr3133436424133436504E069-11605
chr3133461397133461916E06913288
chr3133461945133462055E06913836
chr3133464069133464119E06915960
chr3133473014133473073E06924905
chr3133473315133473659E06925206
chr3133476260133476458E06928151
chr3133482562133482616E06934453
chr3133482923133483028E06934814
chr3133483054133483594E06934945
chr3133483998133484070E06935889
chr3133484337133484387E06936228
chr3133482923133483028E07034814
chr3133483054133483594E07034945
chr3133431016133431089E071-17020
chr3133436424133436504E071-11605
chr3133461397133461916E07113288
chr3133461945133462055E07113836
chr3133464069133464119E07115960
chr3133473014133473073E07124905
chr3133473315133473659E07125206
chr3133482562133482616E07134453
chr3133482923133483028E07134814
chr3133483054133483594E07134945
chr3133483998133484070E07135889
chr3133484337133484387E07136228
chr3133431016133431089E072-17020
chr3133461397133461916E07213288
chr3133461945133462055E07213836
chr3133464069133464119E07215960
chr3133464448133464526E07216339
chr3133473014133473073E07224905
chr3133482923133483028E07234814
chr3133483054133483594E07234945
chr3133483998133484070E07235889
chr3133484337133484387E07236228
chr3133436424133436504E073-11605
chr3133461397133461916E07313288
chr3133461945133462055E07313836
chr3133464448133464526E07316339
chr3133482923133483028E07334814
chr3133483054133483594E07334945
chr3133431016133431089E074-17020
chr3133436424133436504E074-11605
chr3133461397133461916E07413288
chr3133461945133462055E07413836
chr3133464069133464119E07415960
chr3133473014133473073E07424905
chr3133473315133473659E07425206
chr3133476260133476458E07428151
chr3133482562133482616E07434453
chr3133482923133483028E07434814
chr3133483054133483594E07434945
chr3133483998133484070E07435889
chr3133484337133484387E07436228
chr3133464448133464526E08216339









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E06716866
chr3133465195133465439E06717086
chr3133465691133465761E06717582
chr3133468272133468322E06720163
chr3133464975133465152E06816866
chr3133465195133465439E06817086
chr3133465691133465761E06817582
chr3133468272133468322E06820163
chr3133464975133465152E06916866
chr3133465195133465439E06917086
chr3133465691133465761E06917582
chr3133468272133468322E06920163
chr3133465195133465439E07017086
chr3133464975133465152E07116866
chr3133465195133465439E07117086
chr3133465691133465761E07117582
chr3133468272133468322E07120163
chr3133464975133465152E07216866
chr3133465195133465439E07217086
chr3133465691133465761E07217582
chr3133468272133468322E07220163
chr3133464975133465152E07316866
chr3133465195133465439E07317086
chr3133465691133465761E07317582
chr3133468272133468322E07320163
chr3133464975133465152E07416866
chr3133465195133465439E07417086
chr3133465691133465761E07417582
chr3133468272133468322E07420163
chr3133464975133465152E08116866
chr3133464975133465152E08216866
chr3133465195133465439E08217086