Variant report
| Variant | esv3384603 |
|---|---|
| Chromosome Location | chr12:44619222-44619482 |
| 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:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs59957474 | chr12:44619251-44619252 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs561102292 | chr12:44619258-44619259 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs573095365 | chr12:44619279-44619280 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs59136483 | chr12:44619302-44619303 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs565221468 | chr12:44619312-44619313 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs140213701 | chr12:44619354-44619355 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs143922840 | chr12:44619421-44619422 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs554184566 | chr12:44619424-44619425 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs559442760 | chr12:44619474-44619475 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:67)
| 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 |
| 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 |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Cancer | 20164919 | CNVD |
| Adenoid cystic carcinoma | 18332873 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Melanoma | 20877625 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Gastric cancer | 18160780 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Melanoma | 18172304 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| liposarcomas | 17372913 | CNVD |
| Non-small cell lung cancer | 24170126 | CNVD |
| Cancer | 16751803 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:44612000-44655600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr12:44617400-44619600 | Enhancers | Fetal Lung | lung |
| 3 | chr12:44617400-44620400 | Weak transcription | Left Ventricle | heart |
| 4 | chr12:44617800-44620800 | Enhancers | Fetal Brain Female | brain |
| 5 | chr12:44618400-44620600 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 6 | chr12:44618800-44620800 | Weak transcription | Psoas Muscle | Psoas |
| 7 | chr12:44619000-44619400 | Weak transcription | Brain Germinal Matrix | brain |
| 8 | chr12:44619000-44619400 | Weak transcription | Fetal Brain Male | brain |
| 9 | chr12:44619400-44620000 | Enhancers | Brain Germinal Matrix | brain |
| 10 | chr12:44619400-44620000 | Enhancers | Fetal Brain Male | brain |
