rs4927632

Homo sapiens
G>A
TPO : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0402 (11873/29516,GnomAD)
G==0425 (12381/29116,TOPMED)
G==0438 (2191/5008,1000G)
G==0367 (1415/3854,ALSPAC)
G==0367 (1361/3708,TWINSUK)
chr2:1541338 (GRCh38.p7) (2p25.3)
ND
GWASdb2
2   publication(s)
See rs on genome
30 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.1541338G>A
GRCh37.p13 chr 2NC_000002.11:g.1545110G>A
TPO RefSeqGeneNG_011581.1:g.132876G>A

Gene: TPO, thyroid peroxidase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TPO transcript variant 1NM_000547.5:c.N/AIntron Variant
TPO transcript variant 6NM_001206744.1:c.N/AIntron Variant
TPO transcript variant 7NM_001206745.1:c.N/AIntron Variant
TPO transcript variant 2NM_175719.3:c.N/AIntron Variant
TPO transcript variant 4NM_175721.3:c.N/AIntron Variant
TPO transcript variant 5NM_175722.3:c.N/AIntron Variant
TPO transcript variant X2XM_011510380.2:c.N/AIntron Variant
TPO transcript variant X3XM_011510381.2:c.N/AIntron Variant
TPO transcript variant X1XM_011510379.2:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.481A=0.519
1000GenomesAmericanSub694G=0.370A=0.630
1000GenomesEast AsianSub1008G=0.452A=0.548
1000GenomesEuropeSub1006G=0.374A=0.626
1000GenomesGlobalStudy-wide5008G=0.438A=0.562
1000GenomesSouth AsianSub978G=0.480A=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.367A=0.633
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.425A=0.574
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.367A=0.633
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet
24086368An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility.Landa IPLoS One

P-Value

SNP ID p-value Traits Study
rs49276322.04E-05alcohol and nictotine co-dependence20158304

eQTL of rs4927632 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 rs4927632 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

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 )
chr215497471550298E0674637
chr215495921549654E0684482
chr215497471550298E0684637
chr215495921549654E0694482
chr215497471550298E0694637
chr215544211554484E0719311
chr215545311555021E0719421
chr215495921549654E0724482
chr215497471550298E0724637
chr215482341548464E0733124
chr215485341548711E0733424
chr215495921549654E0734482
chr215497471550298E0734637
chr215495921549654E0744482
chr215497471550298E0744637
chr215566211556752E07411511
chr215569411557027E07411831
chr215495921549654E0814482
chr215497471550298E0814637
chr215544211554484E0819311
chr215834221584131E08138312
chr215446461544841E082-269
chr215457011545954E082591
chr215460011546109E082891
chr215462261546276E0821116
chr215462911546367E0821181
chr215463901546516E0821280
chr215544211554484E0829311
chr215545311555021E0829421
chr215834221584131E08238312