Variant report
| Variant | esv3367559 |
|---|---|
| Chromosome Location | chr9:85295394-85295969 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs549019600 | chr9:85295431-85295432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs11139685 | chr9:85295442-85295443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs11139686 | chr9:85295453-85295454 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs546954250 | chr9:85295457-85295458 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs11139687 | chr9:85295488-85295489 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs369323228 | chr9:85295503-85295504 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs143251323 | chr9:85295511-85295512 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs111852347 | chr9:85295624-85295625 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs11139688 | chr9:85295634-85295635 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs537581751 | chr9:85295647-85295648 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs147514561 | chr9:85295650-85295651 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs73476049 | chr9:85295686-85295687 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs35276999 | chr9:85295701-85295702 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs79786579 | chr9:85295724-85295725 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs553255890 | chr9:85295735-85295736 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs111986722 | chr9:85295768-85295769 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs578167434 | chr9:85295784-85295785 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs545288814 | chr9:85295803-85295804 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs563875895 | chr9:85295856-85295857 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs573028129 | chr9:85295904-85295905 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs530989673 | chr9:85295926-85295927 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| Disease | PMID | Source |
|---|---|---|
| Chordoma | 18071362 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Chordoma | 21602918 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| microdeletion syndrome | 16199537 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20164919 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Autism | 22495311 | CNVD |
| Melanoma | 18172304 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 16751803 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Leukemia | 17361228 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Leukemia | 18688285 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Brain cancer | 20823417 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Heart disease | 21282601 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Cancer | 21183584 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Astrocytoma | 22246337 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:85293000-85297400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr9:85295200-85295800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 3 | chr9:85295800-85296000 | Enhancers | Pancreatic Islets | Pancreatic Islet |
