Variant report
| Variant | esv3452115 |
|---|---|
| Chromosome Location | chr12:40980435-40980940 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:40974030..40975876-chr12:40978694..40980782,2 | K562 | blood: |
| 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 | rs544749581 | chr12:40980437-40980438 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs184073689 | chr12:40980447-40980448 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs575090304 | chr12:40980474-40980475 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs542601020 | chr12:40980481-40980482 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs12229897 | chr12:40980501-40980502 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs562014844 | chr12:40980554-40980555 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs528350932 | chr12:40980559-40980560 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs546427058 | chr12:40980563-40980564 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs564707130 | chr12:40980610-40980611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs529478162 | chr12:40980633-40980634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs17128522 | chr12:40980663-40980664 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs74686318 | chr12:40980684-40980685 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs569323141 | chr12:40980715-40980716 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs533508975 | chr12:40980722-40980723 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs188822139 | chr12:40980749-40980750 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs1881301 | chr12:40980777-40980778 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs191302346 | chr12:40980806-40980807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs534460015 | chr12:40980835-40980836 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs536292832 | chr12:40980879-40980880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs577466987 | chr12:40980887-40980888 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs538737175 | chr12:40980897-40980898 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs11177336 | chr12:40980913-40980914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs556820911 | chr12:40980928-40980929 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:40979600-40981200 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 2 | chr12:40980200-40980600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
