Variant report
| Variant | esv3404852 |
|---|---|
| Chromosome Location | chr9:85282132-85283580 |
| 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 | chr9:85282511..85284570-chr9:85285371..85288222,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:15 , 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 | rs529697442 | chr9:85283031-85283032 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs548165500 | chr9:85283092-85283093 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs566657489 | chr9:85283111-85283112 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs544356212 | chr9:85283157-85283158 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs564241044 | chr9:85283168-85283169 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs527540061 | chr9:85283169-85283170 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs551967938 | chr9:85283177-85283178 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs570282294 | chr9:85283277-85283278 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs537625832 | chr9:85283342-85283343 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs533236290 | chr9:85283389-85283390 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs557064790 | chr9:85283456-85283457 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs7846939 | chr9:85283474-85283475 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs111924879 | chr9:85283498-85283499 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs112754670 | chr9:85283507-85283508 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs62579073 | chr9:85283523-85283524 | Enhancers Weak transcription | 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 | chr9:85283000-85283400 | Enhancers | Pancreatic Islets | Pancreatic Islet |
| 2 | chr9:85283000-85284000 | Enhancers | Fetal Lung | lung |
| 3 | chr9:85283200-85284000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 4 | chr9:85283200-85284400 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 5 | chr9:85283400-85284200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 6 | chr9:85283400-85288400 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
