rs7638018

Homo sapiens
A>G
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0294 (8793/29908,GnomAD)
G=0282 (8225/29118,TOPMED)
G=0328 (1644/5008,1000G)
G=0333 (1283/3854,ALSPAC)
G=0335 (1243/3708,TWINSUK)
chr3:133776617 (GRCh38.p7) (3q22.1)
AD
GWASdb2
4   publication(s)
See rs on genome
77 Enhancers around
51 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133776617A>G
GRCh37.p13 chr 3NC_000003.11:g.133495461A>G
TF RefSeqGeneNG_013080.1:g.35485A>G

Gene: TF, transferrin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TF transcript variant 1NM_001063.3:c.N/AIntron 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=0.855G=0.145
1000GenomesAmericanSub694A=0.610G=0.390
1000GenomesEast AsianSub1008A=0.576G=0.424
1000GenomesEuropeSub1006A=0.653G=0.347
1000GenomesGlobalStudy-wide5008A=0.672G=0.328
1000GenomesSouth AsianSub978A=0.590G=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.667G=0.333
The Genome Aggregation DatabaseAfricanSub8702A=0.812G=0.188
The Genome Aggregation DatabaseAmericanSub838A=0.540G=0.460
The Genome Aggregation DatabaseEast AsianSub1618A=0.603G=0.397
The Genome Aggregation DatabaseEuropeSub18448A=0.672G=0.327
The Genome Aggregation DatabaseGlobalStudy-wide29908A=0.706G=0.294
The Genome Aggregation DatabaseOtherSub302A=0.740G=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.717G=0.282
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.665G=0.335
PMID Title Author Journal
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet
22761678Associations between single nucleotide polymorphisms in iron-related genes and iron status in multiethnic populations.McLaren CEPLoS One
23386860Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.Pasquale LRFront Genet
20012890A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples.Ronald ABehav Genet

P-Value

SNP ID p-value Traits Study
rs76380181.16E-12alcohol consumption21665994

eQTL of rs7638018 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 rs7638018 in Fetal Brain

Probe ID Position Gene beta p-value
cg08048268chr3:133502702-0.1681309751696412.2918e-38
cg16414030chr3:133502952-0.1124323269325295.9804e-36
cg01448562chr3:133502909-0.07241718237353741.6299e-35
cg16275903chr3:133524006SRPRB0.06745024003346247.6792e-27
cg08439880chr3:133502540-0.08482069663071291.1749e-23
cg11941060chr3:133502564-0.07750580229474043.7183e-23
cg20276088chr3:133502917-0.04188054165259617.0551e-23

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 )
chr3133461397133461916E067-33545
chr3133461945133462055E067-33406
chr3133464069133464119E067-31342
chr3133464448133464526E067-30935
chr3133482923133483028E067-12433
chr3133483054133483594E067-11867
chr3133483998133484070E067-11391
chr3133464069133464119E068-31342
chr3133482562133482616E068-12845
chr3133482923133483028E068-12433
chr3133483054133483594E068-11867
chr3133461397133461916E069-33545
chr3133461945133462055E069-33406
chr3133464069133464119E069-31342
chr3133473014133473073E069-22388
chr3133473315133473659E069-21802
chr3133476260133476458E069-19003
chr3133482562133482616E069-12845
chr3133482923133483028E069-12433
chr3133483054133483594E069-11867
chr3133483998133484070E069-11391
chr3133484337133484387E069-11074
chr3133540603133541021E06945142
chr3133541191133541245E06945730
chr3133482923133483028E070-12433
chr3133483054133483594E070-11867
chr3133461397133461916E071-33545
chr3133461945133462055E071-33406
chr3133464069133464119E071-31342
chr3133473014133473073E071-22388
chr3133473315133473659E071-21802
chr3133482562133482616E071-12845
chr3133482923133483028E071-12433
chr3133483054133483594E071-11867
chr3133483998133484070E071-11391
chr3133484337133484387E071-11074
chr3133540337133540417E07144876
chr3133461397133461916E072-33545
chr3133461945133462055E072-33406
chr3133464069133464119E072-31342
chr3133464448133464526E072-30935
chr3133473014133473073E072-22388
chr3133482923133483028E072-12433
chr3133483054133483594E072-11867
chr3133483998133484070E072-11391
chr3133484337133484387E072-11074
chr3133461397133461916E073-33545
chr3133461945133462055E073-33406
chr3133464448133464526E073-30935
chr3133482923133483028E073-12433
chr3133483054133483594E073-11867
chr3133540006133540074E07344545
chr3133540337133540417E07344876
chr3133540603133541021E07345142
chr3133541035133541081E07345574
chr3133541191133541245E07345730
chr3133461397133461916E074-33545
chr3133461945133462055E074-33406
chr3133464069133464119E074-31342
chr3133473014133473073E074-22388
chr3133473315133473659E074-21802
chr3133476260133476458E074-19003
chr3133482562133482616E074-12845
chr3133482923133483028E074-12433
chr3133483054133483594E074-11867
chr3133483998133484070E074-11391
chr3133484337133484387E074-11074
chr3133540006133540074E07444545
chr3133540337133540417E07444876
chr3133540603133541021E07445142
chr3133541035133541081E07445574
chr3133541191133541245E07445730
chr3133541431133541497E07445970
chr3133541623133541762E07446162
chr3133541910133541964E07446449
chr3133526132133526214E08130671
chr3133464448133464526E082-30935










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-30309
chr3133465195133465439E067-30022
chr3133465691133465761E067-29700
chr3133468272133468322E067-27139
chr3133524082133525550E06728621
chr3133525588133525634E06730127
chr3133464975133465152E068-30309
chr3133465195133465439E068-30022
chr3133465691133465761E068-29700
chr3133468272133468322E068-27139
chr3133524082133525550E06828621
chr3133525588133525634E06830127
chr3133464975133465152E069-30309
chr3133465195133465439E069-30022
chr3133465691133465761E069-29700
chr3133468272133468322E069-27139
chr3133524082133525550E06928621
chr3133465195133465439E070-30022
chr3133524082133525550E07028621
chr3133525588133525634E07030127
chr3133464975133465152E071-30309
chr3133465195133465439E071-30022
chr3133465691133465761E071-29700
chr3133468272133468322E071-27139
chr3133524082133525550E07128621
chr3133525588133525634E07130127
chr3133464975133465152E072-30309
chr3133465195133465439E072-30022
chr3133465691133465761E072-29700
chr3133468272133468322E072-27139
chr3133524082133525550E07228621
chr3133525588133525634E07230127
chr3133464975133465152E073-30309
chr3133465195133465439E073-30022
chr3133465691133465761E073-29700
chr3133468272133468322E073-27139
chr3133524082133525550E07328621
chr3133525588133525634E07330127
chr3133464975133465152E074-30309
chr3133465195133465439E074-30022
chr3133465691133465761E074-29700
chr3133468272133468322E074-27139
chr3133524082133525550E07428621
chr3133525588133525634E07430127
chr3133464975133465152E081-30309
chr3133524082133525550E08128621
chr3133525588133525634E08130127
chr3133464975133465152E082-30309
chr3133465195133465439E082-30022
chr3133524082133525550E08228621
chr3133525588133525634E08230127