Variant report
| Variant | esv3334853 |
|---|---|
| Chromosome Location | chr12:41197418-41197992 |
| 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 | rs116779202 | chr12:41197438-41197439 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs4551844 | chr12:41197446-41197447 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs576267966 | chr12:41197494-41197495 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs562225364 | chr12:41197542-41197543 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs547437159 | chr12:41197650-41197651 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs543928693 | chr12:41197666-41197667 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs555554074 | chr12:41197694-41197695 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs574019273 | chr12:41197739-41197740 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs114392326 | chr12:41197740-41197741 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs544276651 | chr12:41197774-41197775 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs1041345 | chr12:41197785-41197786 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs1041346 | chr12:41197844-41197845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs533469528 | chr12:41197883-41197884 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs142130380 | chr12:41197884-41197885 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs145829356 | chr12:41197925-41197926 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs530989978 | chr12:41197948-41197949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs138479624 | chr12:41197965-41197966 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs568054645 | chr12:41197971-41197972 | 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 |
| Cancer | 20164919 | 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 |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:41175600-41201800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 2 | chr12:41188800-41202600 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 3 | chr12:41195400-41197800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 4 | chr12:41196600-41199600 | Weak transcription | A549 | lung |
