Variant report
| Variant | esv3353814 |
|---|---|
| Chromosome Location | chr20:24792325-24792935 |
| 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 | chr20:24780843..24782788-chr20:24791141..24793003,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:20 , 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 | rs73101427 | chr20:24792351-24792352 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs11477951 | chr20:24792358-24792359 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs75093709 | chr20:24792360-24792361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs73903981 | chr20:24792375-24792376 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs574546445 | chr20:24792376-24792377 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs539970512 | chr20:24792407-24792408 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs71335540 | chr20:24792415-24792416 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs112853659 | chr20:24792427-24792428 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs6114879 | chr20:24792430-24792431 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs111711418 | chr20:24792454-24792455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs548328350 | chr20:24792615-24792616 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs182411378 | chr20:24792633-24792634 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs562433536 | chr20:24792685-24792686 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs202184023 | chr20:24792737-24792738 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs187423270 | chr20:24792755-24792756 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs191030945 | chr20:24792760-24792761 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs183184897 | chr20:24792818-24792819 | Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs112412876 | chr20:24792826-24792827 | Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs187476709 | chr20:24792834-24792835 | Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs34197041 | chr20:24792908-24792909 | Weak transcription Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:24791600-24793800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr20:24791800-24793600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 3 | chr20:24792000-24793800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 4 | chr20:24792200-24792600 | Weak transcription | Spleen | Spleen |
| 5 | chr20:24792600-24792800 | Enhancers | Spleen | Spleen |
| 6 | chr20:24792800-24793000 | Flanking Active TSS | Spleen | Spleen |
