Variant report
| Variant | esv3454210 |
|---|---|
| Chromosome Location | chr20:22655257-22655801 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs544682336 | chr20:22655281-22655282 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs181872283 | chr20:22655318-22655319 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs530512949 | chr20:22655345-22655346 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs186909813 | chr20:22655347-22655348 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs538843158 | chr20:22655348-22655349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs561125160 | chr20:22655359-22655360 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs553656822 | chr20:22655388-22655389 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs141774692 | chr20:22655390-22655391 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs375349387 | chr20:22655435-22655436 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs567075775 | chr20:22655443-22655444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs532494007 | chr20:22655444-22655445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs531652485 | chr20:22655446-22655447 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs551450934 | chr20:22655499-22655500 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs569317506 | chr20:22655570-22655571 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs202061454 | chr20:22655653-22655654 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs538318095 | chr20:22655662-22655663 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs577612958 | chr20:22655678-22655679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs6082779 | chr20:22655695-22655696 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs143799604 | chr20:22655733-22655734 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs536077922 | chr20:22655734-22655735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs189752939 | chr20:22655760-22655761 | Weak transcription | 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 |
| Prostate cancer | 18632612 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Cancer | 21183584 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Cancer | 20164919 | 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:22645600-22664400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr20:22652200-22659200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
