Variant report
| Variant | esv3415247 |
|---|---|
| Chromosome Location | chr19:21095369-21095769 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs567660500 | chr19:21095377-21095378 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs536801873 | chr19:21095423-21095424 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs567715393 | chr19:21095445-21095446 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs369767645 | chr19:21095446-21095447 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs371590537 | chr19:21095452-21095453 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs35787677 | chr19:21095455-21095456 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 7 | rs576060868 | chr19:21095456-21095457 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs188091595 | chr19:21095458-21095459 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs558445726 | chr19:21095467-21095468 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs371807056 | chr19:21095469-21095470 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs191387257 | chr19:21095479-21095480 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs540876752 | chr19:21095492-21095493 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs146899070 | chr19:21095507-21095508 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs112531775 | chr19:21095529-21095530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs543578631 | chr19:21095605-21095606 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs563351813 | chr19:21095632-21095633 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs11670688 | chr19:21095674-21095675 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 18 | rs545781356 | chr19:21095700-21095701 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs11670696 | chr19:21095726-21095727 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 20 | rs374885124 | chr19:21095734-21095735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs184431278 | chr19:21095738-21095739 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs547773563 | chr19:21095752-21095753 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs567891610 | chr19:21095769-21095770 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:40)
| 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 |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Cancer | 21183584 | CNVD |
| Colorectal cancer | 20459617 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:21087800-21095400 | ZNF genes & repeats | Monocytes-CD14+_RO01746 | blood |
| 2 | chr19:21093600-21097000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
