Variant report
| Variant | esv3318005 |
|---|---|
| Chromosome Location | chr19:20176717-20177040 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs538556222 | chr19:20176720-20176721 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs200420893 | chr19:20176730-20176731 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs35311460 | chr19:20176750-20176751 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 4 | rs34646653 | chr19:20176768-20176769 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs188010551 | chr19:20176797-20176798 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs71332167 | chr19:20176830-20176831 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs202190987 | chr19:20176858-20176859 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs571631212 | chr19:20176880-20176881 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs534195015 | chr19:20176901-20176902 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs573008815 | chr19:20176938-20176939 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs574123434 | chr19:20176949-20176950 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs542449857 | chr19:20176958-20176959 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs556358000 | chr19:20177007-20177008 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs192990561 | chr19:20177010-20177011 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs544876013 | chr19:20177018-20177019 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs564853883 | chr19:20177023-20177024 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs542023638 | chr19:20177024-20177025 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:42)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 16783165 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Chordoma | 18071362 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Oral cancer | 21386901 | CNVD |
| ovarian endometriomas | 16273235 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Myelodysplastic syndrome | 17634407 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chordoma | 21602918 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Cancer | 20164919 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Cancer | 21183584 | CNVD |
| Nasopharyngeal cancer | 20548289 | CNVD |
| Colorectal cancer | 20459617 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:20170200-20178200 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 2 | chr19:20176000-20177200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr19:20176400-20178400 | Weak transcription | H9 Cell Line | embryonic stem cell |
