Variant report
| Variant | esv3443527 |
|---|---|
| Chromosome Location | chr9:73295260-73295748 |
| 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 | chr9:73295277..73297439-chr9:73299280..73301528,2 | MCF-7 | breast: |
| 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 | rs184642258 | chr9:73295321-73295322 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs190792019 | chr9:73295322-73295323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs544585595 | chr9:73295386-73295387 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs562906370 | chr9:73295387-73295388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs369343088 | chr9:73295402-73295403 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs75538577 | chr9:73295454-73295455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs539562688 | chr9:73295491-73295492 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs182143245 | chr9:73295532-73295533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs560287706 | chr9:73295534-73295535 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs1856655 | chr9:73295539-73295540 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 11 | rs549165805 | chr9:73295558-73295559 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs375661537 | chr9:73295591-73295592 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs186816642 | chr9:73295668-73295669 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs531320567 | chr9:73295678-73295679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs1856654 | chr9:73295702-73295703 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs7874138 | chr9:73295720-73295721 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs146412947 | chr9:73295736-73295737 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs542473737 | chr9:73295737-73295738 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| 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 |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Melanoma | 22183965 | 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 |
| Malignant melanoma | 17260012 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:73292000-73297200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 2 | chr9:73292200-73297400 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 3 | chr9:73295000-73298600 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
