Variant report
| Variant | esv3483712 |
|---|---|
| Chromosome Location | chr9:97292788-97293339 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr9:97291272..97293465-chr9:97298151..97299892,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs577606351 | chr9:97292790-97292791 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs545070484 | chr9:97292791-97292792 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs560016722 | chr9:97292900-97292901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs9409582 | chr9:97292901-97292902 | Weak transcription | n/a | n/a | Overlapped CNVs | mRNA abundance |
| 5 | rs200212848 | chr9:97292924-97292925 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs111582391 | chr9:97292950-97292951 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs112400285 | chr9:97293125-97293126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs200987688 | chr9:97293230-97293231 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs202196608 | chr9:97293231-97293232 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs12551995 | chr9:97293248-97293249 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs12552912 | chr9:97293249-97293250 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs184091746 | chr9:97293281-97293282 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs187552049 | chr9:97293284-97293285 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs34629424 | chr9:97293289-97293290 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs549856466 | chr9:97293299-97293300 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs192289161 | chr9:97293330-97293331 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs12552009 | chr9:97293338-97293339 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:79)
| 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 |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Oral cancer | 21386901 | 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 |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Cardiac fibroma | 18329553 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Basal cell nevus syndrome | 21572526 | CNVD |
| Mental retardation | 19951919 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| 9q22.3 microdeletion syndrome | 22283845 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Microcephaly | 18830227 | CNVD |
| overgrowth syndrome | 16570072 | CNVD |
| Effusion lymphoma | 18079361 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:97278000-97295200 | Weak transcription | Liver | Liver |
