rs10935073

Homo sapiens
T>C
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0339 (10135/29896,GnomAD)
C=0345 (10068/29118,TOPMED)
C=0379 (1900/5008,1000G)
C=0320 (1235/3854,ALSPAC)
C=0306 (1135/3708,TWINSUK)
chr3:133720340 (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.133720340T>C
GRCh37.p13 chr 3NC_000003.11:g.133439184T>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
1000GenomesAfricanSub1322T=0.654C=0.346
1000GenomesAmericanSub694T=0.610C=0.390
1000GenomesEast AsianSub1008T=0.581C=0.419
1000GenomesEuropeSub1006T=0.677C=0.323
1000GenomesGlobalStudy-wide5008T=0.621C=0.379
1000GenomesSouth AsianSub978T=0.570C=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.680C=0.320
The Genome Aggregation DatabaseAfricanSub8702T=0.625C=0.375
The Genome Aggregation DatabaseAmericanSub834T=0.540C=0.460
The Genome Aggregation DatabaseEast AsianSub1616T=0.616C=0.384
The Genome Aggregation DatabaseEuropeSub18442T=0.685C=0.314
The Genome Aggregation DatabaseGlobalStudy-wide29896T=0.661C=0.339
The Genome Aggregation DatabaseOtherSub302T=0.780C=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.654C=0.345
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.694C=0.306
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
rs109350732.72E-12alcohol consumption21665994

eQTL of rs10935073 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 rs10935073 in Fetal Brain

Probe ID Position Gene beta p-value
cg01448562chr3:133502909-0.05445071972450486.8533e-19
cg08048268chr3:133502702-0.1229872914168971.0415e-18
cg16275903chr3:133524006SRPRB0.05391413963091291.8020e-17
cg16414030chr3:133502952-0.07904732267084182.5679e-16
cg08439880chr3:133502540-0.06399244269030497.7055e-14
cg11941060chr3:133502564-0.05462092520630858.4257e-12
cg20276088chr3:133502917-0.02963324676931618.7576e-12

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 )
chr3133395447133395540E067-43644
chr3133431016133431089E067-8095
chr3133436424133436504E067-2680
chr3133461397133461916E06722213
chr3133461945133462055E06722761
chr3133464069133464119E06724885
chr3133464448133464526E06725264
chr3133482923133483028E06743739
chr3133483054133483594E06743870
chr3133483998133484070E06744814
chr3133436424133436504E068-2680
chr3133464069133464119E06824885
chr3133482562133482616E06843378
chr3133482923133483028E06843739
chr3133483054133483594E06843870
chr3133431016133431089E069-8095
chr3133436424133436504E069-2680
chr3133461397133461916E06922213
chr3133461945133462055E06922761
chr3133464069133464119E06924885
chr3133473014133473073E06933830
chr3133473315133473659E06934131
chr3133476260133476458E06937076
chr3133482562133482616E06943378
chr3133482923133483028E06943739
chr3133483054133483594E06943870
chr3133483998133484070E06944814
chr3133484337133484387E06945153
chr3133482923133483028E07043739
chr3133483054133483594E07043870
chr3133395447133395540E071-43644
chr3133395561133395628E071-43556
chr3133431016133431089E071-8095
chr3133436424133436504E071-2680
chr3133461397133461916E07122213
chr3133461945133462055E07122761
chr3133464069133464119E07124885
chr3133473014133473073E07133830
chr3133473315133473659E07134131
chr3133482562133482616E07143378
chr3133482923133483028E07143739
chr3133483054133483594E07143870
chr3133483998133484070E07144814
chr3133484337133484387E07145153
chr3133431016133431089E072-8095
chr3133461397133461916E07222213
chr3133461945133462055E07222761
chr3133464069133464119E07224885
chr3133464448133464526E07225264
chr3133473014133473073E07233830
chr3133482923133483028E07243739
chr3133483054133483594E07243870
chr3133483998133484070E07244814
chr3133484337133484387E07245153
chr3133436424133436504E073-2680
chr3133461397133461916E07322213
chr3133461945133462055E07322761
chr3133464448133464526E07325264
chr3133482923133483028E07343739
chr3133483054133483594E07343870
chr3133431016133431089E074-8095
chr3133436424133436504E074-2680
chr3133461397133461916E07422213
chr3133461945133462055E07422761
chr3133464069133464119E07424885
chr3133473014133473073E07433830
chr3133473315133473659E07434131
chr3133476260133476458E07437076
chr3133482562133482616E07443378
chr3133482923133483028E07443739
chr3133483054133483594E07443870
chr3133483998133484070E07444814
chr3133484337133484387E07445153
chr3133464448133464526E08225264









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133392888133393030E067-46154
chr3133393091133393483E067-45701
chr3133393533133393598E067-45586
chr3133393653133393755E067-45429
chr3133464975133465152E06725791
chr3133465195133465439E06726011
chr3133465691133465761E06726507
chr3133468272133468322E06729088
chr3133392888133393030E068-46154
chr3133393091133393483E068-45701
chr3133393533133393598E068-45586
chr3133393653133393755E068-45429
chr3133464975133465152E06825791
chr3133465195133465439E06826011
chr3133465691133465761E06826507
chr3133468272133468322E06829088
chr3133392888133393030E069-46154
chr3133393091133393483E069-45701
chr3133393533133393598E069-45586
chr3133393653133393755E069-45429
chr3133464975133465152E06925791
chr3133465195133465439E06926011
chr3133465691133465761E06926507
chr3133468272133468322E06929088
chr3133465195133465439E07026011
chr3133393091133393483E071-45701
chr3133393533133393598E071-45586
chr3133393653133393755E071-45429
chr3133464975133465152E07125791
chr3133465195133465439E07126011
chr3133465691133465761E07126507
chr3133468272133468322E07129088
chr3133392888133393030E072-46154
chr3133393091133393483E072-45701
chr3133393533133393598E072-45586
chr3133393653133393755E072-45429
chr3133464975133465152E07225791
chr3133465195133465439E07226011
chr3133465691133465761E07226507
chr3133468272133468322E07229088
chr3133392888133393030E073-46154
chr3133393091133393483E073-45701
chr3133393533133393598E073-45586
chr3133393653133393755E073-45429
chr3133464975133465152E07325791
chr3133465195133465439E07326011
chr3133465691133465761E07326507
chr3133468272133468322E07329088
chr3133393091133393483E074-45701
chr3133393533133393598E074-45586
chr3133393653133393755E074-45429
chr3133464975133465152E07425791
chr3133465195133465439E07426011
chr3133465691133465761E07426507
chr3133468272133468322E07429088
chr3133464975133465152E08125791
chr3133393091133393483E082-45701
chr3133393533133393598E082-45586
chr3133464975133465152E08225791
chr3133465195133465439E08226011