Variant report
| Variant | rs11181392 |
|---|---|
| Chromosome Location | chr12:42656585-42656586 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:42631147..42633630-chr12:42655201..42657259,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000015153 | Chromatin interaction |
| ENSG00000134283 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs11181342 | 0.88[AFR][1000 genomes] |
| rs11181372 | 1.00[AFR][1000 genomes] |
| rs11181374 | 1.00[AFR][1000 genomes] |
| rs11181376 | 1.00[AFR][1000 genomes] |
| rs11181377 | 1.00[AFR][1000 genomes] |
| rs11181394 | 1.00[AFR][1000 genomes] |
| rs12297162 | 1.00[AFR][1000 genomes] |
| rs12297435 | 0.82[AFR][1000 genomes] |
| rs12299193 | 1.00[AFR][1000 genomes] |
| rs12300368 | 0.94[AFR][1000 genomes] |
| rs12300611 | 1.00[AFR][1000 genomes] |
| rs12300698 | 1.00[AFR][1000 genomes] |
| rs12301505 | 1.00[AFR][1000 genomes] |
| rs12305400 | 1.00[AFR][1000 genomes] |
| rs12307866 | 1.00[AFR][1000 genomes] |
| rs12308598 | 1.00[AFR][1000 genomes] |
| rs12308904 | 1.00[AFR][1000 genomes] |
| rs12309515 | 1.00[AFR][1000 genomes] |
| rs12312690 | 1.00[AFR][1000 genomes] |
| rs12313448 | 1.00[AFR][1000 genomes] |
| rs12313668 | 0.88[AFR][1000 genomes] |
| rs12314028 | 1.00[AFR][1000 genomes] |
| rs12319084 | 1.00[AFR][1000 genomes] |
| rs12321515 | 1.00[AFR][1000 genomes] |
| rs12322392 | 1.00[AFR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv430505 | chr12:42297931-42720773 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
| 2 | nsv826351 | chr12:42584218-42676281 | Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 19 gene(s) | inside rSNPs | diseases |
| 3 | nsv826352 | chr12:42593124-42675255 | Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
| 4 | esv3397788 | chr12:42636734-42665519 | Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS | TF binding regionChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv1048971 | chr12:42651976-42801204 | Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 12 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:42654200-42660600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
