Variant report
| Variant | esv3450272 |
|---|---|
| Chromosome Location | chr9:73501641-73502003 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| 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 | rs113089911 | chr9:73501644-73501645 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs554967637 | chr9:73501659-73501660 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs140355806 | chr9:73501737-73501738 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs11788489 | chr9:73501744-73501745 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs537302936 | chr9:73501770-73501771 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs558883525 | chr9:73501800-73501801 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs577012073 | chr9:73501811-73501812 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs541200862 | chr9:73501829-73501830 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs559219847 | chr9:73501840-73501841 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs574442231 | chr9:73501870-73501871 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs77327485 | chr9:73501877-73501878 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs562894583 | chr9:73501900-73501901 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs188521356 | chr9:73501904-73501905 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs531890484 | chr9:73501934-73501935 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs150352727 | chr9:73501975-73501976 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs565567632 | chr9:73501986-73501987 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs548540690 | chr9:73501990-73501991 | Enhancers 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 |
| 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 |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:73498400-73503600 | Weak transcription | HUVEC | blood vessel |
| 2 | chr9:73500600-73501800 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 3 | chr9:73500600-73501800 | Weak transcription | NHDF-Ad | bronchial |
| 4 | chr9:73501800-73503000 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 5 | chr9:73502000-73502200 | Enhancers | NHDF-Ad | bronchial |
