Variant report
| Variant | rs545920282 |
|---|---|
| Chromosome Location | chr12:120394043-120394044 |
| allele | C/T |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:34)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:34 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | SMC3 | chr12:120394027-120394115 | Hela-S3 | cervix: | n/a | n/a |
| 2 | RFX5 | chr12:120394019-120394093 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 3 | CTCF | chr12:120393980-120394130 | HMF | breast: | n/a | n/a |
| 4 | CTCF | chr12:120394020-120394170 | HepG2 | liver: | n/a | n/a |
| 5 | CTCF | chr12:120394000-120394150 | A549 | lung: | n/a | n/a |
| 6 | CTCF | chr12:120394007-120394152 | HepG2 | liver: | n/a | n/a |
| 7 | RAD21 | chr12:120393941-120394172 | Hela-S3 | cervix: | n/a | n/a |
| 8 | CTCF | chr12:120393940-120394090 | HEK293 | kidney: | n/a | n/a |
| 9 | CTCF | chr12:120393976-120394135 | HepG2 | liver: | n/a | n/a |
| 10 | CTCF | chr12:120393974-120394170 | K562 | blood: | n/a | n/a |
| 11 | CTCF | chr12:120393980-120394130 | HepG2 | liver: | n/a | n/a |
| 12 | RAD21 | chr12:120393887-120394224 | HepG2 | liver: | n/a | n/a |
| 13 | CTCF | chr12:120394040-120394190 | HCPEpiC | choroid plexus: | n/a | n/a |
| 14 | CTCF | chr12:120393980-120394130 | BE2_C | brain: | n/a | n/a |
| 15 | CTCF | chr12:120393946-120394204 | K562 | blood: | n/a | n/a |
| 16 | RAD21 | chr12:120393921-120394289 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 17 | CTCF | chr12:120394020-120394170 | HMEC | breast: | n/a | n/a |
| 18 | CTCF | chr12:120393980-120394130 | K562 | blood: | n/a | n/a |
| 19 | BACH1 | chr12:120393976-120394069 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 20 | CTCF | chr12:120394020-120394170 | NHDF-neo | bronchial: | n/a | n/a |
| 21 | KAP1 | chr12:120393866-120394319 | HEK293 | kidney: | n/a | n/a |
| 22 | CTCF | chr12:120394017-120394121 | Hela-S3 | cervix: | n/a | n/a |
| 23 | CTCF | chr12:120393870-120394199 | HepG2 | liver: | n/a | n/a |
| 24 | CTCF | chr12:120393980-120394130 | NB4 | blood: | n/a | n/a |
| 25 | CTCF | chr12:120394020-120394170 | HEK293 | kidney: | n/a | n/a |
| 26 | RAD21 | chr12:120393893-120394168 | HepG2 | liver: | n/a | n/a |
| 27 | CTCF | chr12:120393882-120394195 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 28 | CTCF | chr12:120394020-120394170 | A549 | lung: | n/a | n/a |
| 29 | CTCF | chr12:120394000-120394150 | HPAF | blood vessel: | n/a | n/a |
| 30 | SMC3 | chr12:120393929-120394120 | HepG2 | liver: | n/a | n/a |
| 31 | CTCF | chr12:120393980-120394130 | Hela-S3 | cervix: | n/a | n/a |
| 32 | RAD21 | chr12:120393997-120394106 | SK-N-SH_RA | brain: | n/a | n/a |
| 33 | CTCF | chr12:120393940-120394090 | SAEC | small airway: | n/a | n/a |
| 34 | SETDB1 | chr12:120393789-120394337 | U2OS | brain: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| RPL35AP30 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv455727 | chr12:120259679-120420670 | Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 2 | nsv560397 | chr12:120259679-120420670 | Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 3 | nsv510575 | chr12:120303163-120437490 | Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 4 | esv3525916 | chr12:120345352-120665045 | Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 99 gene(s) | inside rSNPs | diseases |
| 5 | esv3525917 | chr12:120345352-120665045 | Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 99 gene(s) | inside rSNPs | diseases |
| 6 | nsv455728 | chr12:120355563-120396295 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats | TF binding regionChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 7 | nsv560398 | chr12:120355563-120396295 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 8 | nsv899554 | chr12:120389613-120513625 | Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 9 | nsv973127 | chr12:120391836-120402653 | Weak transcription Bivalent Enhancer Enhancers | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |





