Variant report
| Variant | rs550021145 |
|---|---|
| Chromosome Location | chr12:48559255-48559256 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:42)
- CpG islands (count:0)
- Chromatin interactive region (count:8)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:42 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | SMC3 | chr12:48558898-48559272 | K562 | blood: | n/a | n/a |
| 2 | RAD21 | chr12:48558786-48559312 | H1-hESC | embryonic stem cell: | n/a | chr12:48558865-48558875 |
| 3 | RFX5 | chr12:48558939-48559262 | GM12878 | blood: | n/a | n/a |
| 4 | CTCF | chr12:48558855-48559280 | A549 | lung: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 5 | CTCF | chr12:48558763-48559625 | A549 | lung: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 6 | CTCF | chr12:48558791-48559336 | SK-N-SH | brain: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 7 | CTCF | chr12:48558629-48559470 | HCT-116 | colon: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 8 | CTCF | chr12:48558854-48559301 | IMR90 | lung: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 9 | RAD21 | chr12:48558792-48559343 | ECC-1 | luminal epithelium: | n/a | chr12:48558865-48558875 |
| 10 | CTCF | chr12:48558891-48559292 | HepG2 | liver: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 11 | RAD21 | chr12:48558792-48559262 | H1-hESC | embryonic stem cell: | n/a | chr12:48558865-48558875 |
| 12 | CUX1 | chr12:48558915-48559322 | K562 | blood: | n/a | n/a |
| 13 | RAD21 | chr12:48558777-48559582 | SK-N-SH | brain: | n/a | chr12:48558865-48558875 |
| 14 | CTCF | chr12:48558776-48559362 | MCF-7 | breast: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 15 | CTCF | chr12:48558808-48559438 | HCT-116 | colon: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 16 | CTCF | chr12:48558827-48559338 | MCF-7 | breast: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 17 | RAD21 | chr12:48558729-48559375 | HCT-116 | colon: | n/a | chr12:48558865-48558875 |
| 18 | RAD21 | chr12:48558888-48559261 | HepG2 | liver: | n/a | n/a |
| 19 | RAD21 | chr12:48558825-48559293 | SK-N-SH_RA | brain: | n/a | chr12:48558865-48558875 |
| 20 | RAD21 | chr12:48558762-48559374 | ECC-1 | luminal epithelium: | n/a | chr12:48558865-48558875 |
| 21 | ZNF143 | chr12:48558888-48559268 | GM12878 | blood: | n/a | n/a |
| 22 | CTCF | chr12:48558846-48559261 | K562 | blood: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 23 | CTCF | chr12:48558939-48559256 | Spleen_OC | spleen: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 24 | RAD21 | chr12:48558720-48559349 | HepG2 | liver: | n/a | chr12:48558865-48558875 |
| 25 | RAD21 | chr12:48558764-48559393 | HCT-116 | colon: | n/a | chr12:48558865-48558875 |
| 26 | CTCF | chr12:48558809-48559301 | K562 | blood: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 27 | RAD21 | chr12:48558873-48559286 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 28 | RAD21 | chr12:48558882-48559368 | HepG2 | liver: | n/a | n/a |
| 29 | SMC3 | chr12:48558842-48559461 | SK-N-SH | brain: | n/a | n/a |
| 30 | RAD21 | chr12:48558848-48559288 | Hela-S3 | cervix: | n/a | chr12:48558865-48558875 |
| 31 | RAD21 | chr12:48558840-48559302 | GM12878 | blood: | n/a | chr12:48558865-48558875 |
| 32 | SMC3 | chr12:48558840-48559299 | Hela-S3 | cervix: | n/a | n/a |
| 33 | RAD21 | chr12:48558902-48559348 | MCF-7 | breast: | n/a | n/a |
| 34 | RAD21 | chr12:48558805-48559316 | A549 | lung: | n/a | chr12:48558865-48558875 |
| 35 | CTCF | chr12:48558806-48559296 | T-47D | breast: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 36 | RAD21 | chr12:48558694-48559290 | MCF-7 | breast: | n/a | chr12:48558865-48558875 |
| 37 | CTCF | chr12:48558797-48559288 | A549 | lung: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 38 | RAD21 | chr12:48558897-48559255 | K562 | blood: | n/a | n/a |
| 39 | SMC3 | chr12:48558732-48559351 | GM12878 | blood: | n/a | n/a |
| 40 | CTCF | chr12:48558859-48559290 | GM12878 | blood: | n/a | chr12:48559078-48559087 chr12:48559072-48559090 |
| 41 | ARID3A | chr12:48558889-48559348 | K562 | blood: | n/a | n/a |
| 42 | RAD21 | chr12:48558728-48559374 | A549 | lung: | n/a | chr12:48558865-48558875 |
| No data |
(count:8 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:48559108..48559625-chr12:48848164..48848665,2 | MCF-7 | breast: | |
| 2 | chr12:48477561..48478652-chr12:48558658..48559651,7 | MCF-7 | breast: | |
| 3 | chr12:48477632..48478212-chr12:48558666..48559592,2 | MCF-7 | breast: | |
| 4 | chr12:48336001..48336747-chr12:48558620..48559352,3 | K562 | blood: | |
| 5 | chr12:48559054..48559616-chr12:48570377..48571168,2 | K562 | blood: | |
| 6 | chr12:48298747..48299610-chr12:48558705..48559281,2 | MCF-7 | breast: | |
| 7 | chr12:48549808..48555740-chr12:48556420..48560606,6 | K562 | blood: | |
| 8 | chr12:48239241..48242168-chr12:48557559..48560161,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000258051 | TF binding region |
| ENSG00000111424 | Chromatin interaction |
| ENSG00000258051 | Chromatin interaction |
| ENSG00000177981 | Chromatin interaction |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv2758307 | chr12:48429702-48825499 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 57 gene(s) | inside rSNPs | diseases |
| 2 | esv2759898 | chr12:48429702-48825499 | Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 57 gene(s) | inside rSNPs | diseases |
| 3 | nsv508673 | chr12:48489786-48567138 | Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised 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 | 23 gene(s) | inside rSNPs | diseases |
| 4 | nsv8971 | chr12:48536526-48758501 | Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
| 5 | esv34439 | chr12:48541757-48779562 | Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 39 gene(s) | inside rSNPs | diseases |
| 6 | esv2757502 | chr12:48547128-48779562 | Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 39 gene(s) | inside rSNPs | diseases |
| 7 | nsv976608 | chr12:48558446-48563571 | Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 6 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
