Variant report
| Variant | esv3497134 |
|---|---|
| Chromosome Location | chr12:42445250-42445648 |
| 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:27 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs11181308 | chr12:42445259-42445260 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs202084038 | chr12:42445337-42445338 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs550679404 | chr12:42445339-42445340 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs183573195 | chr12:42445348-42445349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs552177298 | chr12:42445415-42445416 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs188173717 | chr12:42445431-42445432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs192796630 | chr12:42445466-42445467 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs373648821 | chr12:42445486-42445487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs373698898 | chr12:42445503-42445504 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs56693737 | chr12:42445515-42445516 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs199583948 | chr12:42445516-42445517 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs200721366 | chr12:42445517-42445518 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs202059310 | chr12:42445518-42445519 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs370453925 | chr12:42445519-42445520 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs199827423 | chr12:42445539-42445540 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs200500600 | chr12:42445541-42445542 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs201465299 | chr12:42445544-42445545 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs368517611 | chr12:42445546-42445547 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs370374107 | chr12:42445548-42445549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs374762882 | chr12:42445550-42445551 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs1095047 | chr12:42445552-42445553 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs375884923 | chr12:42445554-42445555 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs151198482 | chr12:42445556-42445557 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs59135157 | chr12:42445574-42445575 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs201940232 | chr12:42445576-42445577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs183747762 | chr12:42445590-42445591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs188115163 | chr12:42445625-42445626 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:59)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 20858243 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Cancer | 20164920 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 21364760 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:42444800-42447000 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
