Variant report
| Variant | esv2204947 |
|---|---|
| Chromosome Location | chr12:41659631-41660328 |
| 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 | rs5797719 | chr12:41659662-41659663 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs398098164 | chr12:41659668-41659669 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs183672337 | chr12:41659677-41659678 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs373994291 | chr12:41659710-41659711 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs149899986 | chr12:41659712-41659713 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs567742524 | chr12:41659731-41659732 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs535160893 | chr12:41659752-41659753 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs961749 | chr12:41659770-41659771 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs187818509 | chr12:41659805-41659806 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs374843462 | chr12:41659828-41659829 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs201784877 | chr12:41659832-41659833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs200132633 | chr12:41659833-41659834 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs113953319 | chr12:41659835-41659836 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs539624918 | chr12:41659838-41659839 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs369360903 | chr12:41659989-41659990 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs111365936 | chr12:41659990-41659991 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs201036636 | chr12:41660132-41660133 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs201987611 | chr12:41660133-41660134 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs377621141 | chr12:41660216-41660217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs368425507 | chr12:41660225-41660226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs529252377 | chr12:41660261-41660262 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs576302386 | chr12:41660283-41660284 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs190378188 | chr12:41660311-41660312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:41651200-41661000 | Weak transcription | Colon Smooth Muscle | Colon |
