Variant report
| Variant | esv3367566 |
|---|---|
| Chromosome Location | chr19:23482087-23482456 |
| 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:24 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs7507944 | chr19:23482091-23482092 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs546920324 | chr19:23482095-23482096 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs77401828 | chr19:23482096-23482097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs571444147 | chr19:23482099-23482100 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs73016397 | chr19:23482101-23482102 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs78423713 | chr19:23482105-23482106 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs77864009 | chr19:23482107-23482108 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs77938890 | chr19:23482115-23482116 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs151265556 | chr19:23482129-23482130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs3048958 | chr19:23482131-23482132 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs396147 | chr19:23482162-23482163 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs145781834 | chr19:23482163-23482164 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs568958105 | chr19:23482185-23482186 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs538832701 | chr19:23482220-23482221 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs62122164 | chr19:23482225-23482226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs181944148 | chr19:23482257-23482258 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs429079 | chr19:23482275-23482276 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 18 | rs534620180 | chr19:23482328-23482329 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs143810740 | chr19:23482364-23482365 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs559241953 | chr19:23482366-23482367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs149633112 | chr19:23482437-23482438 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs377100316 | chr19:23482438-23482439 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs367625184 | chr19:23482442-23482443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs372631702 | chr19:23482454-23482455 | 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 |
| Ductal carcinoma | 22052326 | CNVD |
| Cancer | 20164920 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:23468600-23492600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
