Variant report
| Variant | esv3402410 |
|---|---|
| Chromosome Location | chr19:21003224-21003685 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs200430016 | chr19:21003234-21003235 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs75106935 | chr19:21003245-21003246 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs373288408 | chr19:21003258-21003259 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs578058327 | chr19:21003281-21003282 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs540596701 | chr19:21003295-21003296 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs140310193 | chr19:21003307-21003308 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs573807715 | chr19:21003317-21003318 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs542917951 | chr19:21003327-21003328 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs562534416 | chr19:21003360-21003361 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs145239036 | chr19:21003461-21003462 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs80228220 | chr19:21003503-21003504 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs573458659 | chr19:21003507-21003508 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs545136785 | chr19:21003513-21003514 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs11666023 | chr19:21003569-21003570 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs527403315 | chr19:21003598-21003599 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs141412716 | chr19:21003611-21003612 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs192236871 | chr19:21003640-21003641 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs12150898 | chr19:21003679-21003680 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:43)
| 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 |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Melanoma | 20877625 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:20991000-21006800 | Weak transcription | Ovary | ovary |
| 2 | chr19:20999000-21006600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr19:21000000-21004000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 4 | chr19:21000000-21005400 | ZNF genes & repeats | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 5 | chr19:21001600-21006800 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 6 | chr19:21002600-21003800 | ZNF genes & repeats | Fetal Brain Female | brain |
| 7 | chr19:21003600-21005000 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
