Variant report
| Variant | rs11890230 |
|---|---|
| Chromosome Location | chr2:182692444-182692445 |
| 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 | chr2:182681410..182683561-chr2:182690955..182693010,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs10181991 | 1.00[AMR][1000 genomes] |
| rs11887558 | 1.00[AMR][1000 genomes] |
| rs11894897 | 1.00[AMR][1000 genomes] |
| rs11896011 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11898245 | 1.00[AMR][1000 genomes] |
| rs11903559 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs13384392 | 1.00[AMR][1000 genomes] |
| rs13384479 | 1.00[AMR][1000 genomes] |
| rs13395789 | 1.00[AMR][1000 genomes] |
| rs13405727 | 1.00[AMR][1000 genomes] |
| rs13407143 | 1.00[AMR][1000 genomes] |
| rs13419020 | 1.00[AMR][1000 genomes] |
| rs16867501 | 1.00[AMR][1000 genomes] |
| rs73032631 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73032645 | 0.87[AFR][1000 genomes] |
| rs73032655 | 1.00[AMR][1000 genomes] |
| rs73032661 | 1.00[AMR][1000 genomes] |
| rs73032669 | 1.00[AMR][1000 genomes] |
| rs73032673 | 1.00[AMR][1000 genomes] |
| rs73032699 | 1.00[AMR][1000 genomes] |
| rs73038912 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1005870 | chr2:181968637-182921439 | Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
| 2 | nsv536063 | chr2:181968637-182921439 | Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
| 3 | nsv1001558 | chr2:182590009-182732738 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive region | 6 gene(s) | inside rSNPs | diseases |
| 4 | nsv834478 | chr2:182654811-182843201 | Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 19 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:182682200-182695400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr2:182690600-182695400 | Weak transcription | Pancreas | Pancrea |
