Variant report
| Variant | esv3496423 |
|---|---|
| Chromosome Location | chr12:30043626-30044063 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs532280421 | chr12:30043649-30043650 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs11050525 | chr12:30043678-30043679 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs113373022 | chr12:30043679-30043680 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs529758045 | chr12:30043686-30043687 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs548304029 | chr12:30043748-30043749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs148870140 | chr12:30043756-30043757 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs1976067 | chr12:30043762-30043763 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs1976068 | chr12:30043763-30043764 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs1976069 | chr12:30043764-30043765 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs74352862 | chr12:30043795-30043796 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs190164573 | chr12:30043798-30043799 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs571832142 | chr12:30043801-30043802 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs538939040 | chr12:30043811-30043812 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs554480818 | chr12:30043845-30043846 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs151271301 | chr12:30043914-30043915 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs181215217 | chr12:30043915-30043916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs386508310 | chr12:30043947-30043948 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs557584634 | chr12:30043971-30043972 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs576096196 | chr12:30043986-30043987 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs543921222 | chr12:30043989-30043990 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs574153533 | chr12:30044035-30044036 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs185541162 | chr12:30044041-30044042 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs190255721 | chr12:30044054-30044055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| Disease | PMID | Source |
|---|---|---|
| Melanoma | 18172304 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Seminomas | 18059402 | 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 |
| 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 |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Cancer | 21129771 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30037800-30049400 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 2 | chr12:30039800-30048400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr12:30042800-30048600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
