Variant report
| Variant | esv3390569 |
|---|---|
| Chromosome Location | chr11:45474207-45474615 |
| 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:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs185392620 | chr11:45474218-45474219 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs138447164 | chr11:45474219-45474220 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs554382110 | chr11:45474245-45474246 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs568013351 | chr11:45474275-45474276 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs533793534 | chr11:45474295-45474296 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs545063000 | chr11:45474320-45474321 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs558632591 | chr11:45474342-45474343 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs554045709 | chr11:45474404-45474405 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs573361763 | chr11:45474411-45474412 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs577130987 | chr11:45474509-45474510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs1530867 | chr11:45474565-45474566 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs12364278 | chr11:45474577-45474578 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs190250904 | chr11:45474598-45474599 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs76420317 | chr11:45474604-45474605 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs562216175 | chr11:45474612-45474613 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs11038478 | chr11:45474613-45474614 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| Disease | PMID | Source |
|---|---|---|
| Parathyroid adenoma | 22454399 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chordoma | 21602918 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Beckwith-Wiedemann syndrome | 21518781 | CNVD |
| Wilms tumour | 21518781 | CNVD |
| Hepatoblastoma | 21518781 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Chordoma | 18071362 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Potocki-Shaffer syndrome | 19222835 | CNVD |
| WAGR syndrome | 19222835 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Melanoma | 18172304 | CNVD |
| Intracranial ependymoma | 16609018 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Potocki-Shaffer syndrome | 22470819 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Colorectal cancer | 21128281 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Central neurocytomas | 17123091 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Cancer | 17160897 | CNVD |
| Mantle cell lymphoma | 19029149 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:45472200-45477000 | Weak transcription | Right Atrium | heart |
| 2 | chr11:45473600-45478600 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 3 | chr11:45474200-45474400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
