rs17732233

Homo sapiens
C>T
TPO : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0279 (8354/29914,GnomAD)
T=0258 (7535/29116,TOPMED)
T=0248 (1241/5008,1000G)
T=0320 (1234/3854,ALSPAC)
T=0312 (1157/3708,TWINSUK)
chr2:1515292 (GRCh38.p7) (2p25.3)
ND
GWASdb2
1   publication(s)
See rs on genome
28 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.1515292C>T
GRCh37.p13 chr 2NC_000002.11:g.1519064C>T
TPO RefSeqGeneNG_011581.1:g.106830C>T
GRCh38.p7 chr 2 alt locus HSCHR2_4_CTG1NT_187529.1:g.197663C>T

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 X1XM_011510379.2:c.N/AIntron Variant
TPO transcript variant X2XM_011510380.2:c.N/AIntron Variant
TPO transcript variant X3XM_011510381.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.862T=0.138
1000GenomesAmericanSub694C=0.720T=0.280
1000GenomesEast AsianSub1008C=0.763T=0.237
1000GenomesEuropeSub1006C=0.692T=0.308
1000GenomesGlobalStudy-wide5008C=0.752T=0.248
1000GenomesSouth AsianSub978C=0.680T=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.680T=0.320
The Genome Aggregation DatabaseAfricanSub8714C=0.824T=0.176
The Genome Aggregation DatabaseAmericanSub838C=0.670T=0.330
The Genome Aggregation DatabaseEast AsianSub1616C=0.765T=0.235
The Genome Aggregation DatabaseEuropeSub18444C=0.670T=0.329
The Genome Aggregation DatabaseGlobalStudy-wide29914C=0.720T=0.279
The Genome Aggregation DatabaseOtherSub302C=0.700T=0.300
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.741T=0.258
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.688T=0.312
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs177322334.97E-05alcohol and nictotine co-dependence20158304

eQTL of rs17732233 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 rs17732233 in Fetal Brain

Probe ID Position Gene beta p-value
cg08025464chr2:1484593TPO0.06951733005952742.7679e-19

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 )
chr215497471550298E06730683
chr215495921549654E06830528
chr215497471550298E06830683
chr215495921549654E06930528
chr215497471550298E06930683
chr215544211554484E07135357
chr215545311555021E07135467
chr215495921549654E07230528
chr215497471550298E07230683
chr215482341548464E07329170
chr215485341548711E07329470
chr215495921549654E07330528
chr215497471550298E07330683
chr215495921549654E07430528
chr215497471550298E07430683
chr215566211556752E07437557
chr215569411557027E07437877
chr215495921549654E08130528
chr215497471550298E08130683
chr215544211554484E08135357
chr215446461544841E08225582
chr215457011545954E08226637
chr215460011546109E08226937
chr215462261546276E08227162
chr215462911546367E08227227
chr215463901546516E08227326
chr215544211554484E08235357
chr215545311555021E08235467