Variant report
| Variant | esv3446352 |
|---|---|
| Chromosome Location | chr9:86672451-86672796 |
| 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 | chr9:86671448..86673966-chr9:86679778..86681333,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs550528211 | chr9:86672453-86672454 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs542973106 | chr9:86672458-86672459 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs12348361 | chr9:86672478-86672479 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs539720437 | chr9:86672481-86672482 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs10780646 | chr9:86672489-86672490 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs573128233 | chr9:86672520-86672521 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs79565530 | chr9:86672580-86672581 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs566942974 | chr9:86672601-86672602 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs565062136 | chr9:86672621-86672622 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs192496771 | chr9:86672629-86672630 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs183333204 | chr9:86672725-86672726 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs187717554 | chr9:86672735-86672736 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:72)
| 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 |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:86669200-86673000 | Enhancers | Skeletal Muscle Male | skeletal muscle |
| 2 | chr9:86670200-86673400 | Enhancers | Skeletal Muscle Female | skeletal muscle |
| 3 | chr9:86671000-86673400 | Enhancers | Fetal Muscle Leg | muscle |
| 4 | chr9:86672000-86672800 | Enhancers | Psoas Muscle | Psoas |
| 5 | chr9:86672000-86676600 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 6 | chr9:86672400-86673200 | Weak transcription | Fetal Muscle Trunk | muscle |
