rs9830001

Homo sapiens
G>A
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0472 (14133/29890,GnomAD)
G==0479 (13969/29118,TOPMED)
G==0372 (1862/5008,1000G)
A=0367 (1416/3854,ALSPAC)
A=0349 (1294/3708,TWINSUK)
chr3:133714626 (GRCh38.p7) (3q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
57 Enhancers around
60 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133714626G>A
GRCh37.p13 chr 3NC_000003.11:g.133433470G>A

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=0.290A=0.710
1000GenomesAmericanSub694G=0.470A=0.530
1000GenomesEast AsianSub1008G=0.205A=0.795
1000GenomesEuropeSub1006G=0.616A=0.384
1000GenomesGlobalStudy-wide5008G=0.372A=0.628
1000GenomesSouth AsianSub978G=0.330A=0.670
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.633A=0.367
The Genome Aggregation DatabaseAfricanSub8684G=0.320A=0.680
The Genome Aggregation DatabaseAmericanSub836G=0.420A=0.580
The Genome Aggregation DatabaseEast AsianSub1608G=0.200A=0.800
The Genome Aggregation DatabaseEuropeSub18460G=0.655A=0.344
The Genome Aggregation DatabaseGlobalStudy-wide29890G=0.527A=0.472
The Genome Aggregation DatabaseOtherSub302G=0.660A=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.479A=0.520
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.651A=0.349
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
rs98300016.31E-11alcohol consumption21665994

eQTL of rs9830001 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 rs9830001 in Fetal Brain

Probe ID Position Gene beta p-value
cg01448562chr3:1335029090.0459922999613414.4333e-14
cg16414030chr3:1335029520.06874007382041794.3170e-13
cg20276088chr3:1335029170.02990556010456815.3344e-13
cg08048268chr3:1335027020.09740537993338063.4108e-12
cg11941060chr3:1335025640.05015519079352279.6978e-11
cg16275903chr3:133524006SRPRB-0.04005675633898294.0488e-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 )
chr3133395447133395540E067-37930
chr3133431016133431089E067-2381
chr3133436424133436504E0672954
chr3133461397133461916E06727927
chr3133461945133462055E06728475
chr3133464069133464119E06730599
chr3133464448133464526E06730978
chr3133482923133483028E06749453
chr3133436424133436504E0682954
chr3133464069133464119E06830599
chr3133482562133482616E06849092
chr3133482923133483028E06849453
chr3133431016133431089E069-2381
chr3133436424133436504E0692954
chr3133461397133461916E06927927
chr3133461945133462055E06928475
chr3133464069133464119E06930599
chr3133473014133473073E06939544
chr3133473315133473659E06939845
chr3133476260133476458E06942790
chr3133482562133482616E06949092
chr3133482923133483028E06949453
chr3133482923133483028E07049453
chr3133395447133395540E071-37930
chr3133395561133395628E071-37842
chr3133431016133431089E071-2381
chr3133436424133436504E0712954
chr3133461397133461916E07127927
chr3133461945133462055E07128475
chr3133464069133464119E07130599
chr3133473014133473073E07139544
chr3133473315133473659E07139845
chr3133482562133482616E07149092
chr3133482923133483028E07149453
chr3133431016133431089E072-2381
chr3133461397133461916E07227927
chr3133461945133462055E07228475
chr3133464069133464119E07230599
chr3133464448133464526E07230978
chr3133473014133473073E07239544
chr3133482923133483028E07249453
chr3133436424133436504E0732954
chr3133461397133461916E07327927
chr3133461945133462055E07328475
chr3133464448133464526E07330978
chr3133482923133483028E07349453
chr3133431016133431089E074-2381
chr3133436424133436504E0742954
chr3133461397133461916E07427927
chr3133461945133462055E07428475
chr3133464069133464119E07430599
chr3133473014133473073E07439544
chr3133473315133473659E07439845
chr3133476260133476458E07442790
chr3133482562133482616E07449092
chr3133482923133483028E07449453
chr3133464448133464526E08230978









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133392888133393030E067-40440
chr3133393091133393483E067-39987
chr3133393533133393598E067-39872
chr3133393653133393755E067-39715
chr3133464975133465152E06731505
chr3133465195133465439E06731725
chr3133465691133465761E06732221
chr3133468272133468322E06734802
chr3133392888133393030E068-40440
chr3133393091133393483E068-39987
chr3133393533133393598E068-39872
chr3133393653133393755E068-39715
chr3133464975133465152E06831505
chr3133465195133465439E06831725
chr3133465691133465761E06832221
chr3133468272133468322E06834802
chr3133392888133393030E069-40440
chr3133393091133393483E069-39987
chr3133393533133393598E069-39872
chr3133393653133393755E069-39715
chr3133464975133465152E06931505
chr3133465195133465439E06931725
chr3133465691133465761E06932221
chr3133468272133468322E06934802
chr3133465195133465439E07031725
chr3133393091133393483E071-39987
chr3133393533133393598E071-39872
chr3133393653133393755E071-39715
chr3133464975133465152E07131505
chr3133465195133465439E07131725
chr3133465691133465761E07132221
chr3133468272133468322E07134802
chr3133392888133393030E072-40440
chr3133393091133393483E072-39987
chr3133393533133393598E072-39872
chr3133393653133393755E072-39715
chr3133464975133465152E07231505
chr3133465195133465439E07231725
chr3133465691133465761E07232221
chr3133468272133468322E07234802
chr3133392888133393030E073-40440
chr3133393091133393483E073-39987
chr3133393533133393598E073-39872
chr3133393653133393755E073-39715
chr3133464975133465152E07331505
chr3133465195133465439E07331725
chr3133465691133465761E07332221
chr3133468272133468322E07334802
chr3133393091133393483E074-39987
chr3133393533133393598E074-39872
chr3133393653133393755E074-39715
chr3133464975133465152E07431505
chr3133465195133465439E07431725
chr3133465691133465761E07432221
chr3133468272133468322E07434802
chr3133464975133465152E08131505
chr3133393091133393483E082-39987
chr3133393533133393598E082-39872
chr3133464975133465152E08231505
chr3133465195133465439E08231725