Variant report
| Variant | nsv973259 |
|---|---|
| Chromosome Location | chr9:43011927-43014034 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:11)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:11 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | BCL11A | chr9:43012402-43012637 | GM12878 | blood: | n/a | n/a |
| 2 | EP300 | chr9:43012032-43012233 | GM12878 | blood: | n/a | n/a |
| 3 | FOXA2 | chr9:43013171-43013424 | A549 | lung: | n/a | n/a |
| 4 | IRF4 | chr9:43013205-43013578 | GM12878 | blood: | n/a | n/a |
| 5 | PAX5 | chr9:43012024-43012177 | GM12878 | blood: | n/a | n/a |
| 6 | PBX3 | chr9:43012047-43012168 | GM12878 | blood: | n/a | n/a |
| 7 | POU2F2 | chr9:43013122-43013577 | GM12878 | blood: | n/a | n/a |
| 8 | POU2F2 | chr9:43013366-43013518 | GM12878 | blood: | n/a | n/a |
| 9 | POU2F2 | chr9:43011667-43012001 | GM12878 | blood: | n/a | n/a |
| 10 | SPI1 | chr9:43012027-43012210 | GM12878 | blood: | n/a | n/a |
| 11 | ZBTB33 | chr9:43012030-43012212 | GM12878 | blood: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000269225 | 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 | rs74891124 | chr9:43011934-43011935 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs77784273 | chr9:43011936-43011937 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs374260473 | chr9:43011997-43011998 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs62551786 | chr9:43012110-43012111 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs200857972 | chr9:43012522-43012523 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| Disease | PMID | Source |
|---|---|---|
| Gastric cancer | 21586687 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Myopathy | 18421352 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Acute lymphoblastic leukemia | 18957548 | CNVD |
| Myeloproliferative neoplasm | 17564968 | CNVD |
| Malignant meningioma | 17937814 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Glioma | 21971842 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Melanoma | 18172304 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Chordoma | 18071362 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chordoma | 21602918 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| microdeletion syndrome | 16199537 | CNVD |
| Cancer | 20164919 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Autism | 22495311 | CNVD |
| Melanoma | 22183965 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Cancer | 16751803 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Sezary syndrome | 18413736 | CNVD |
| Breast cancer | 20409316 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| Schizophrenia | 21346763 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Breast cancer | 21990379 | CNVD |
| Astrocytoma | 22246337 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
