rs11921527

Homo sapiens
G>A
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0388 (11583/29854,GnomAD)
A=0415 (12085/29118,TOPMED)
A=0455 (2279/5008,1000G)
A=0334 (1287/3854,ALSPAC)
A=0319 (1183/3708,TWINSUK)
chr3:133722323 (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.133722323G>A
GRCh37.p13 chr 3NC_000003.11:g.133441167G>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=0.500A=0.500
1000GenomesAmericanSub694G=0.570A=0.430
1000GenomesEast AsianSub1008G=0.529A=0.471
1000GenomesEuropeSub1006G=0.667A=0.333
1000GenomesGlobalStudy-wide5008G=0.545A=0.455
1000GenomesSouth AsianSub978G=0.480A=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.666A=0.334
The Genome Aggregation DatabaseAfricanSub8678G=0.496A=0.504
The Genome Aggregation DatabaseAmericanSub836G=0.510A=0.490
The Genome Aggregation DatabaseEast AsianSub1608G=0.553A=0.447
The Genome Aggregation DatabaseEuropeSub18430G=0.674A=0.326
The Genome Aggregation DatabaseGlobalStudy-wide29854G=0.612A=0.388
The Genome Aggregation DatabaseOtherSub302G=0.750A=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.585A=0.415
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.681A=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
rs119215273.89E-12alcohol consumption21665994

eQTL of rs11921527 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 rs11921527 in Fetal Brain

Probe ID Position Gene beta p-value
cg01448562chr3:133502909-0.05147056721465983.5547e-18
cg08048268chr3:133502702-0.1130913309967036.8076e-17
cg08439880chr3:133502540-0.06527102597477589.1772e-16
cg16275903chr3:133524006SRPRB0.04933694028324621.2104e-15
cg16414030chr3:133502952-0.07182196283087782.0200e-14
cg11941060chr3:133502564-0.05174850685151711.8135e-11
cg20276088chr3:133502917-0.02759308306161924.6336e-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 )
chr3133395447133395540E067-45627
chr3133431016133431089E067-10078
chr3133436424133436504E067-4663
chr3133461397133461916E06720230
chr3133461945133462055E06720778
chr3133464069133464119E06722902
chr3133464448133464526E06723281
chr3133482923133483028E06741756
chr3133483054133483594E06741887
chr3133483998133484070E06742831
chr3133436424133436504E068-4663
chr3133464069133464119E06822902
chr3133482562133482616E06841395
chr3133482923133483028E06841756
chr3133483054133483594E06841887
chr3133431016133431089E069-10078
chr3133436424133436504E069-4663
chr3133461397133461916E06920230
chr3133461945133462055E06920778
chr3133464069133464119E06922902
chr3133473014133473073E06931847
chr3133473315133473659E06932148
chr3133476260133476458E06935093
chr3133482562133482616E06941395
chr3133482923133483028E06941756
chr3133483054133483594E06941887
chr3133483998133484070E06942831
chr3133484337133484387E06943170
chr3133482923133483028E07041756
chr3133483054133483594E07041887
chr3133395447133395540E071-45627
chr3133395561133395628E071-45539
chr3133431016133431089E071-10078
chr3133436424133436504E071-4663
chr3133461397133461916E07120230
chr3133461945133462055E07120778
chr3133464069133464119E07122902
chr3133473014133473073E07131847
chr3133473315133473659E07132148
chr3133482562133482616E07141395
chr3133482923133483028E07141756
chr3133483054133483594E07141887
chr3133483998133484070E07142831
chr3133484337133484387E07143170
chr3133431016133431089E072-10078
chr3133461397133461916E07220230
chr3133461945133462055E07220778
chr3133464069133464119E07222902
chr3133464448133464526E07223281
chr3133473014133473073E07231847
chr3133482923133483028E07241756
chr3133483054133483594E07241887
chr3133483998133484070E07242831
chr3133484337133484387E07243170
chr3133436424133436504E073-4663
chr3133461397133461916E07320230
chr3133461945133462055E07320778
chr3133464448133464526E07323281
chr3133482923133483028E07341756
chr3133483054133483594E07341887
chr3133431016133431089E074-10078
chr3133436424133436504E074-4663
chr3133461397133461916E07420230
chr3133461945133462055E07420778
chr3133464069133464119E07422902
chr3133473014133473073E07431847
chr3133473315133473659E07432148
chr3133476260133476458E07435093
chr3133482562133482616E07441395
chr3133482923133483028E07441756
chr3133483054133483594E07441887
chr3133483998133484070E07442831
chr3133484337133484387E07443170
chr3133464448133464526E08223281









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133392888133393030E067-48137
chr3133393091133393483E067-47684
chr3133393533133393598E067-47569
chr3133393653133393755E067-47412
chr3133464975133465152E06723808
chr3133465195133465439E06724028
chr3133465691133465761E06724524
chr3133468272133468322E06727105
chr3133392888133393030E068-48137
chr3133393091133393483E068-47684
chr3133393533133393598E068-47569
chr3133393653133393755E068-47412
chr3133464975133465152E06823808
chr3133465195133465439E06824028
chr3133465691133465761E06824524
chr3133468272133468322E06827105
chr3133392888133393030E069-48137
chr3133393091133393483E069-47684
chr3133393533133393598E069-47569
chr3133393653133393755E069-47412
chr3133464975133465152E06923808
chr3133465195133465439E06924028
chr3133465691133465761E06924524
chr3133468272133468322E06927105
chr3133465195133465439E07024028
chr3133393091133393483E071-47684
chr3133393533133393598E071-47569
chr3133393653133393755E071-47412
chr3133464975133465152E07123808
chr3133465195133465439E07124028
chr3133465691133465761E07124524
chr3133468272133468322E07127105
chr3133392888133393030E072-48137
chr3133393091133393483E072-47684
chr3133393533133393598E072-47569
chr3133393653133393755E072-47412
chr3133464975133465152E07223808
chr3133465195133465439E07224028
chr3133465691133465761E07224524
chr3133468272133468322E07227105
chr3133392888133393030E073-48137
chr3133393091133393483E073-47684
chr3133393533133393598E073-47569
chr3133393653133393755E073-47412
chr3133464975133465152E07323808
chr3133465195133465439E07324028
chr3133465691133465761E07324524
chr3133468272133468322E07327105
chr3133393091133393483E074-47684
chr3133393533133393598E074-47569
chr3133393653133393755E074-47412
chr3133464975133465152E07423808
chr3133465195133465439E07424028
chr3133465691133465761E07424524
chr3133468272133468322E07427105
chr3133464975133465152E08123808
chr3133393091133393483E082-47684
chr3133393533133393598E082-47569
chr3133464975133465152E08223808
chr3133465195133465439E08224028