Variant report
| Variant | rs557013248 |
|---|---|
| Chromosome Location | chr5:75370297-75370298 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:14)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:14 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr5:75370296-75370727 | H1-hESC | embryonic stem cell: | n/a | chr5:75370513-75370522 chr5:75370512-75370533 |
| 2 | CTCF | chr5:75370294-75370817 | MCF-7 | breast: | n/a | chr5:75370513-75370522 chr5:75370512-75370533 |
| 3 | RAD21 | chr5:75370242-75370758 | HCT-116 | colon: | n/a | chr5:75370691-75370700 chr5:75370511-75370530 |
| 4 | FOXM1 | chr5:75370249-75370727 | GM12878 | blood: | n/a | n/a |
| 5 | RAD21 | chr5:75370270-75370755 | MCF-7 | breast: | n/a | chr5:75370691-75370700 chr5:75370511-75370530 |
| 6 | RAD21 | chr5:75370280-75370721 | GM12878 | blood: | n/a | chr5:75370691-75370700 chr5:75370511-75370530 |
| 7 | RAD21 | chr5:75370285-75370781 | H1-hESC | embryonic stem cell: | n/a | chr5:75370691-75370700 chr5:75370511-75370530 |
| 8 | RAD21 | chr5:75370163-75370896 | SK-N-SH | brain: | n/a | chr5:75370691-75370700 chr5:75370511-75370530 |
| 9 | RAD21 | chr5:75370290-75370762 | A549 | lung: | n/a | chr5:75370691-75370700 chr5:75370511-75370530 |
| 10 | FOXM1 | chr5:75370260-75370857 | GM12878 | blood: | n/a | n/a |
| 11 | RAD21 | chr5:75370288-75370685 | ECC-1 | luminal epithelium: | n/a | chr5:75370511-75370530 |
| 12 | SMC3 | chr5:75370206-75370952 | SK-N-SH | brain: | n/a | chr5:75370512-75370519 |
| 13 | CTCF | chr5:75370264-75370666 | MCF-7 | breast: | n/a | chr5:75370513-75370522 chr5:75370512-75370533 |
| 14 | CTCF | chr5:75370184-75370816 | SK-N-SH | brain: | n/a | chr5:75370513-75370522 chr5:75370512-75370533 |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr5:75370241..75371009-chr5:75551554..75552357,4 | K562 | blood: | |
| 2 | chr5:75370056..75370744-chr5:75551849..75552754,4 | MCF-7 | breast: | |
| 3 | chr5:75370258..75370917-chr5:75470691..75471438,2 | MCF-7 | breast: | |
| 4 | chr5:75370186..75371274-chr5:75551816..75552790,4 | MCF-7 | breast: | |
| 5 | chr5:75370002..75370997-chr5:75470399..75471572,8 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000249777 | TF binding region |
| ENSG00000251342 | TF binding region |
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 | nsv1027368 | chr5:74759999-75663712 | Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
| 2 | nsv518475 | chr5:74863041-75411804 | Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
| 3 | nsv4883 | chr5:75360926-75373963 | Weak transcription Bivalent Enhancer Enhancers | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | n/a |
| 4 | nsv869885 | chr5:75365786-75419656 | Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 5 | nsv1033350 | chr5:75367809-75538460 | Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
