Variant report
| Variant | esv3435111 |
|---|---|
| Chromosome Location | chr10:55269518-55269757 |
| 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:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs137867763 | chr10:55269543-55269544 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs118020240 | chr10:55269581-55269582 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs66484271 | chr10:55269586-55269587 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs143528030 | chr10:55269594-55269595 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs78676063 | chr10:55269598-55269599 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs201732615 | chr10:55269607-55269608 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs4935441 | chr10:55269611-55269612 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs11003657 | chr10:55269614-55269615 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs533179798 | chr10:55269646-55269647 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs34071784 | chr10:55269648-55269649 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs73231800 | chr10:55269705-55269706 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs35659760 | chr10:55269726-55269727 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs562802764 | chr10:55269745-55269746 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:71)
| Disease | PMID | Source |
|---|---|---|
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Melanoma | 18172304 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Autism | 18414403 | CNVD |
| Cockayne syndrome | 18421352 | CNVD |
| Glioblastoma | 16823260 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Glioma | 21971842 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Obesity | 21956041 | CNVD |
| Developmental delay | 21948486 | CNVD |
| Dysmorphic features | 21948486 | CNVD |
| Epilepsy | 21948486 | CNVD |
| Intellectual disability | 21948486 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21364760 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Autism | 20841430 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Epilepsy | 20923578 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Schizophrenia | 19329560 | CNVD |
| Heart failure | 18772530 | CNVD |
| Heart failure | 18854381 | CNVD |
| Hyperglycemia | 19060297 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Usher syndrome | 20538994 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Autism | 20858243 | CNVD |
| Melanoma | 17363583 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Usher type I cohort | 17277737 | CNVD |
| Usher type I cohort | 21436283 | CNVD |
| Leukemia | 21357790 | CNVD |
| Medulloblastoma | 22832581 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:55259400-55272600 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
| 2 | chr10:55264200-55277200 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 3 | chr10:55268600-55270200 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 4 | chr10:55269000-55270200 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 5 | chr10:55269200-55270000 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
| 6 | chr10:55269400-55269600 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
| 7 | chr10:55269400-55270000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
