Variant report
| Variant | esv3380703 |
|---|---|
| Chromosome Location | chr12:40362549-40362599 |
| 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 | 12:40355227-40369361..12:40703633-40711447 | GM12878 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000188906 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs10634186 | chr12:40362551-40362552 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs79390485 | chr12:40362552-40362553 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs55918708 | chr12:40362555-40362556 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs75402289 | chr12:40362557-40362558 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs56158648 | chr12:40362558-40362559 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs56392524 | chr12:40362561-40362562 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs66585586 | chr12:40362562-40362563 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs368778505 | chr12:40362563-40362564 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs376509861 | chr12:40362564-40362565 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs56265085 | chr12:40362566-40362567 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs56126760 | chr12:40362568-40362569 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs56072432 | chr12:40362570-40362571 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs55794625 | chr12:40362576-40362577 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs55896058 | chr12:40362577-40362578 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs7980531 | chr12:40362578-40362579 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs371332006 | chr12:40362580-40362581 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs553152253 | chr12:40362582-40362583 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs79072638 | chr12:40362584-40362585 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs76189687 | chr12:40362585-40362586 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs201055908 | chr12:40362596-40362597 | Weak transcription | Chromatin interactive region | 1 gene(s) | 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 | chr12:40338000-40366000 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
| 2 | chr12:40347800-40369800 | Weak transcription | Pancreas | Pancrea |
| 3 | chr12:40361200-40366000 | Weak transcription | NHDF-Ad | bronchial |
