Variant report
| Variant | nsv826347 |
|---|---|
| Chromosome Location | chr12:41347977-41348426 |
| 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 | rs540291024 | chr12:41347992-41347993 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs375110492 | chr12:41348020-41348021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs116959433 | chr12:41348021-41348022 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs12296676 | chr12:41348067-41348068 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs141571349 | chr12:41348139-41348140 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs547385314 | chr12:41348157-41348158 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs146866565 | chr12:41348291-41348292 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs538500075 | chr12:41348309-41348310 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs556974231 | chr12:41348403-41348404 | Weak transcription Enhancers | 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 | chr12:41317800-41356400 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
| 2 | chr12:41333400-41352800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 3 | chr12:41339000-41365600 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 4 | chr12:41346800-41348000 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 5 | chr12:41347200-41352400 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 6 | chr12:41347400-41348400 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 7 | chr12:41348400-41348600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
