rs7646118

Homo sapiens
C>T
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0380 (11351/29820,GnomAD)
T=0404 (11781/29118,TOPMED)
T=0448 (2243/5008,1000G)
T=0334 (1286/3854,ALSPAC)
T=0318 (1180/3708,TWINSUK)
chr3:133731195 (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.133731195C>T
GRCh37.p13 chr 3NC_000003.11:g.133450039C>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
1000GenomesAfricanSub1322C=0.527T=0.473
1000GenomesAmericanSub694C=0.570T=0.430
1000GenomesEast AsianSub1008C=0.529T=0.471
1000GenomesEuropeSub1006C=0.667T=0.333
1000GenomesGlobalStudy-wide5008C=0.552T=0.448
1000GenomesSouth AsianSub978C=0.480T=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.666T=0.334
The Genome Aggregation DatabaseAfricanSub8664C=0.521T=0.479
The Genome Aggregation DatabaseAmericanSub838C=0.520T=0.480
The Genome Aggregation DatabaseEast AsianSub1602C=0.548T=0.452
The Genome Aggregation DatabaseEuropeSub18414C=0.674T=0.325
The Genome Aggregation DatabaseGlobalStudy-wide29820C=0.619T=0.380
The Genome Aggregation DatabaseOtherSub302C=0.750T=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.595T=0.404
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.682T=0.318
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
rs76461183.78E-12alcohol consumption21665994

eQTL of rs7646118 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 rs7646118 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 )
chr3133431016133431089E067-18950
chr3133436424133436504E067-13535
chr3133461397133461916E06711358
chr3133461945133462055E06711906
chr3133464069133464119E06714030
chr3133464448133464526E06714409
chr3133482923133483028E06732884
chr3133483054133483594E06733015
chr3133483998133484070E06733959
chr3133436424133436504E068-13535
chr3133464069133464119E06814030
chr3133482562133482616E06832523
chr3133482923133483028E06832884
chr3133483054133483594E06833015
chr3133431016133431089E069-18950
chr3133436424133436504E069-13535
chr3133461397133461916E06911358
chr3133461945133462055E06911906
chr3133464069133464119E06914030
chr3133473014133473073E06922975
chr3133473315133473659E06923276
chr3133476260133476458E06926221
chr3133482562133482616E06932523
chr3133482923133483028E06932884
chr3133483054133483594E06933015
chr3133483998133484070E06933959
chr3133484337133484387E06934298
chr3133482923133483028E07032884
chr3133483054133483594E07033015
chr3133431016133431089E071-18950
chr3133436424133436504E071-13535
chr3133461397133461916E07111358
chr3133461945133462055E07111906
chr3133464069133464119E07114030
chr3133473014133473073E07122975
chr3133473315133473659E07123276
chr3133482562133482616E07132523
chr3133482923133483028E07132884
chr3133483054133483594E07133015
chr3133483998133484070E07133959
chr3133484337133484387E07134298
chr3133431016133431089E072-18950
chr3133461397133461916E07211358
chr3133461945133462055E07211906
chr3133464069133464119E07214030
chr3133464448133464526E07214409
chr3133473014133473073E07222975
chr3133482923133483028E07232884
chr3133483054133483594E07233015
chr3133483998133484070E07233959
chr3133484337133484387E07234298
chr3133436424133436504E073-13535
chr3133461397133461916E07311358
chr3133461945133462055E07311906
chr3133464448133464526E07314409
chr3133482923133483028E07332884
chr3133483054133483594E07333015
chr3133431016133431089E074-18950
chr3133436424133436504E074-13535
chr3133461397133461916E07411358
chr3133461945133462055E07411906
chr3133464069133464119E07414030
chr3133473014133473073E07422975
chr3133473315133473659E07423276
chr3133476260133476458E07426221
chr3133482562133482616E07432523
chr3133482923133483028E07432884
chr3133483054133483594E07433015
chr3133483998133484070E07433959
chr3133484337133484387E07434298
chr3133464448133464526E08214409









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E06714936
chr3133465195133465439E06715156
chr3133465691133465761E06715652
chr3133468272133468322E06718233
chr3133464975133465152E06814936
chr3133465195133465439E06815156
chr3133465691133465761E06815652
chr3133468272133468322E06818233
chr3133464975133465152E06914936
chr3133465195133465439E06915156
chr3133465691133465761E06915652
chr3133468272133468322E06918233
chr3133465195133465439E07015156
chr3133464975133465152E07114936
chr3133465195133465439E07115156
chr3133465691133465761E07115652
chr3133468272133468322E07118233
chr3133464975133465152E07214936
chr3133465195133465439E07215156
chr3133465691133465761E07215652
chr3133468272133468322E07218233
chr3133464975133465152E07314936
chr3133465195133465439E07315156
chr3133465691133465761E07315652
chr3133468272133468322E07318233
chr3133464975133465152E07414936
chr3133465195133465439E07415156
chr3133465691133465761E07415652
chr3133468272133468322E07418233
chr3133464975133465152E08114936
chr3133464975133465152E08214936
chr3133465195133465439E08215156