Variant report
| Variant | esv2020878 |
|---|---|
| Chromosome Location | chr20:26193419-26193424 |
| 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 | chr20:26192921..26195094-chr20:26197740..26199404,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs58946415 | chr20:26193419-26193420 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs113173289 | chr20:26193423-26193424 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs78749842 | chr20:26193424-26193425 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:41)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Lung cancer | 18438408 | CNVD |
| Autism | 22495311 | CNVD |
| Anaplastic large cell lymphoma | 18179710 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Cancer | 21183584 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Chordoma | 18071362 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:26190400-26196000 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 2 | chr20:26190400-26196200 | Weak transcription | Muscle Satellite Cultured Cells | -- |
| 3 | chr20:26190400-26196800 | Weak transcription | HSMM | muscle |
| 4 | chr20:26190600-26194000 | Weak transcription | Primary T helper naive cells fromperipheralblood | blood |
