Variant report
| Variant | esv14439 |
|---|---|
| Chromosome Location | chr19:22528768-22529480 |
| 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:28 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs141236800 | chr19:22529039-22529040 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs568345670 | chr19:22529041-22529042 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs375231413 | chr19:22529059-22529060 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs567109007 | chr19:22529062-22529063 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs537315558 | chr19:22529084-22529085 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs386807929 | chr19:22529104-22529105 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs73923837 | chr19:22529105-22529106 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs577058609 | chr19:22529106-22529107 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs73923838 | chr19:22529138-22529139 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs73923839 | chr19:22529162-22529163 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs538322741 | chr19:22529169-22529170 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs539660391 | chr19:22529208-22529209 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs386807930 | chr19:22529214-22529215 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs374735122 | chr19:22529221-22529222 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs566810610 | chr19:22529228-22529229 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs77378465 | chr19:22529232-22529233 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs574882462 | chr19:22529233-22529234 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs548877589 | chr19:22529247-22529248 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs572532341 | chr19:22529270-22529271 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs542566007 | chr19:22529290-22529291 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs150746090 | chr19:22529297-22529298 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs534694584 | chr19:22529334-22529335 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs374678268 | chr19:22529342-22529343 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs35312710 | chr19:22529361-22529362 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs73923840 | chr19:22529363-22529364 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs573064755 | chr19:22529374-22529375 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs139092327 | chr19:22529409-22529410 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs565056212 | chr19:22529416-22529417 | 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 |
| 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 | 17122850 | CNVD |
| Cancer | 20164920 | CNVD |
| Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:22529000-22530200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 2 | chr19:22529000-22530200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr19:22529200-22529800 | ZNF genes & repeats | Pancreas | Pancrea |
