Variant report
| Variant | rs292147 |
|---|---|
| Chromosome Location | chr20:52892584-52892585 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:8)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:8 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr20:52891151..52893259-chr21:33433759..33435627,2 | MCF-7 | breast: | |
| 2 | chr20:52892335..52894745-chr20:52921772..52923928,2 | MCF-7 | breast: | |
| 3 | chr20:52891210..52894147-chr20:52899496..52901678,2 | MCF-7 | breast: | |
| 4 | chr20:52891755..52894002-chr3:64171405..64173308,2 | MCF-7 | breast: | |
| 5 | chr20:52891578..52893729-chr20:52943256..52945368,2 | MCF-7 | breast: | |
| 6 | chr20:52891487..52895363-chr20:52902222..52905146,4 | MCF-7 | breast: | |
| 7 | chr20:52835239..52838782-chr20:52890174..52893182,4 | MCF-7 | breast: | |
| 8 | chr20:52891107..52893591-chr20:52960404..52961944,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000226017 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs1477737 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs1812479 | 1.00[AMR][1000 genomes] |
| rs2169617 | 1.00[AMR][1000 genomes] |
| rs2426508 | 1.00[AMR][1000 genomes] |
| rs292115 | 1.00[AMR][1000 genomes] |
| rs292121 | 1.00[AMR][1000 genomes] |
| rs292124 | 1.00[AMR][1000 genomes] |
| rs292127 | 1.00[AMR][1000 genomes] |
| rs292130 | 1.00[AMR][1000 genomes] |
| rs292131 | 1.00[AMR][1000 genomes] |
| rs292133 | 1.00[AMR][1000 genomes] |
| rs292134 | 1.00[AMR][1000 genomes] |
| rs292136 | 1.00[AMR][1000 genomes] |
| rs292137 | 1.00[AMR][1000 genomes] |
| rs292138 | 1.00[AMR][1000 genomes] |
| rs406902 | 1.00[AMR][1000 genomes] |
| rs409262 | 1.00[AMR][1000 genomes] |
| rs6097908 | 1.00[AMR][1000 genomes] |
| rs73912631 | 1.00[AMR][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 | nsv586224 | chr20:52474850-53279490 | Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 338 gene(s) | inside rSNPs | diseases |
| 2 | nsv834010 | chr20:52759824-52932939 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 119 gene(s) | inside rSNPs | diseases |
| 3 | nsv834011 | chr20:52858341-53086042 | Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS | Chromatin interactive regionlncRNA | 55 gene(s) | inside rSNPs | diseases |
| 4 | nsv962638 | chr20:52883415-52917517 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | Chromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 5 | nsv178887 | chr20:52885413-52894836 | Enhancers Weak transcription | Chromatin interactive region | 7 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:52890000-52893200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 2 | chr20:52891800-52893800 | Enhancers | Stomach Mucosa | stomach |
