Variant report
| Variant | esv3447032 |
|---|---|
| Chromosome Location | chr9:72316979-72317476 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr9:72316586..72319182-chr9:72326502..72329352,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs560079493 | chr9:72317004-72317005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs11139904 | chr9:72317018-72317019 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs140902094 | chr9:72317104-72317105 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs146511613 | chr9:72317106-72317107 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs559800341 | chr9:72317132-72317133 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs200820931 | chr9:72317133-72317134 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs60996436 | chr9:72317134-72317135 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs189761731 | chr9:72317215-72317216 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs537610915 | chr9:72317266-72317267 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs561136249 | chr9:72317267-72317268 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs531652909 | chr9:72317339-72317340 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs182169530 | chr9:72317353-72317354 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs185379835 | chr9:72317354-72317355 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs561908328 | chr9:72317372-72317373 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs532101324 | chr9:72317373-72317374 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs547507655 | chr9:72317389-72317390 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs7862630 | chr9:72317435-72317436 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs149513783 | chr9:72317470-72317471 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17133270 | CNVD |
| 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 |
| Melanoma | 22183965 | 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 |
| Acute myeloid leukemia | 20729466 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Epilepsy | 22083797 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Cancer | 21183584 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:72313000-72333200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
