Variant report
Variant | rs7648947 |
---|---|
Chromosome Location | chr3:43174229-43174230 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:43146026..43148649-chr3:43173688..43176557,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000144647 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs11718469 | 0.84[EUR][1000 genomes] |
rs12639294 | 0.89[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes] |
rs13061707 | 0.84[EUR][1000 genomes] |
rs13087759 | 0.90[EUR][1000 genomes] |
rs13098435 | 0.84[EUR][1000 genomes] |
rs1949585 | 0.89[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes] |
rs2372337 | 0.85[EUR][1000 genomes] |
rs34118369 | 0.92[EUR][1000 genomes] |
rs4683355 | 0.82[EUR][1000 genomes] |
rs4683357 | 0.85[CEU][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs493412 | 0.91[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap] |
rs729654 | 0.82[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv460522 | chr3:42967597-43175207 | Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
2 | nsv590149 | chr3:42967597-43175207 | Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
3 | nsv834672 | chr3:43132722-43306272 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:43173800-43175200 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |