Variant report
| Variant | esv3513226 |
|---|---|
| Chromosome Location | chr20:24894118-24894533 |
| 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 | chr20:24892772..24894924-chr20:24896880..24898878,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs184637886 | chr20:24894169-24894170 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs369319727 | chr20:24894173-24894174 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs200458208 | chr20:24894206-24894207 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs565618719 | chr20:24894209-24894210 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs112509368 | chr20:24894215-24894216 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs138112013 | chr20:24894230-24894231 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs142586821 | chr20:24894232-24894233 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs111913167 | chr20:24894239-24894240 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs148275488 | chr20:24894240-24894241 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs201438102 | chr20:24894254-24894255 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs111616207 | chr20:24894263-24894264 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs573397021 | chr20:24894295-24894296 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs62216697 | chr20:24894311-24894312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs141339208 | chr20:24894319-24894320 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs538672269 | chr20:24894323-24894324 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs62216698 | chr20:24894335-24894336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs569166245 | chr20:24894336-24894337 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs372937575 | chr20:24894349-24894350 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs537763643 | chr20:24894358-24894359 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs113026795 | chr20:24894372-24894373 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs116595733 | chr20:24894424-24894425 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs62216699 | chr20:24894448-24894449 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs116445188 | chr20:24894453-24894454 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 19627613 | CNVD |
| colon cancer | 17210682 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Central neurocytomas | 17123091 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Autism | 22495311 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Alagille syndrome | 17576883 | CNVD |
| Anaplastic large cell lymphoma | 18179710 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Cancer | 21183584 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Thrombophilia | 17576883 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Chordoma | 18071362 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Gastric cancer | 22014070 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:24891800-24896000 | Weak transcription | Spleen | Spleen |
| 2 | chr20:24892600-24898600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr20:24894000-24898400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
