Variant report
| Variant | esv2214561 |
|---|---|
| Chromosome Location | chr11:5225915-5225916 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:8)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:8 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr11:5225819-5226511 | HCT-116 | colon: | n/a | chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205 |
| 2 | CTCF | chr11:5225780-5225930 | K562 | blood: | n/a | n/a |
| 3 | CTCF | chr11:5225820-5225970 | BJ | skin: | n/a | n/a |
| 4 | CTCF | chr11:5225766-5226490 | SK-N-SH | brain: | n/a | chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205 |
| 5 | CTCF | chr11:5225800-5226495 | A549 | lung: | n/a | chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205 |
| 6 | RAD21 | chr11:5225913-5226520 | HCT-116 | colon: | n/a | chr11:5226194-5226213 |
| 7 | RAD21 | chr11:5225908-5226500 | A549 | lung: | n/a | chr11:5226194-5226213 |
| 8 | RAD21 | chr11:5225908-5226511 | HCT-116 | colon: | n/a | chr11:5226194-5226213 |
| No data |
(count:2 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| OR51V1 | TF binding region |
| ENSG00000224091 | TF binding region |
| ENSG00000213931 | chromatin interactions |
| ENSG00000196565 | chromatin interactions |
| ENSG00000167355 | chromatin interactions |
| ENSG00000176742 | chromatin interactions |
| No data |
Variant related diseases (count:59)
| Disease | PMID | Source |
|---|---|---|
| Neuroblastoma | 18923191 | CNVD |
| Breast cancer | 19432969 | CNVD |
| Alzheimer''s disease | 17576883 | CNVD |
| Long-qt syndrome | 17576883 | CNVD |
| Emphysema | 19352772 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Chordoma | 18071362 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Cancer | 21183584 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Parathyroid adenoma | 22454399 | CNVD |
| Chordoma | 21602918 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Beckwith-Wiedemann syndrome | 21518781 | CNVD |
| Wilms tumour | 21518781 | CNVD |
| Hepatoblastoma | 21518781 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Autism | 22495311 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioma | 17123091 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Neuroblastoma | 21124317 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Cancer | 17160897 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21364760 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:5217600-5226000 | Weak transcription | NHLF | lung |
| 2 | chr11:5223000-5229600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr11:5224200-5226200 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 4 | chr11:5225200-5231600 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 5 | chr11:5225400-5226400 | Enhancers | K562 | blood |
