Variant report
| Variant | esv3353156 |
|---|---|
| Chromosome Location | chr12:29232317-29232646 |
| 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:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs185499321 | chr12:29232347-29232348 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs557641054 | chr12:29232348-29232349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs562548423 | chr12:29232355-29232356 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs578176896 | chr12:29232358-29232359 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs189485862 | chr12:29232460-29232461 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs181486224 | chr12:29232465-29232466 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs539272984 | chr12:29232466-29232467 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs56235020 | chr12:29232478-29232479 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs542743439 | chr12:29232498-29232499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs531616669 | chr12:29232502-29232503 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs185979859 | chr12:29232507-29232508 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs4931146 | chr12:29232514-29232515 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs536548310 | chr12:29232533-29232534 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs4931147 | chr12:29232550-29232551 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs74076482 | chr12:29232553-29232554 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs543899974 | chr12:29232575-29232576 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs1603386 | chr12:29232596-29232597 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 18 | rs565857959 | chr12:29232611-29232612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs375247914 | chr12:29232624-29232625 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| 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 |
| Acute lymphoblastic leukemia | 21248843 | 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 promyelocytic leukemia | 19109227 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Autism | 22102821 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21364760 | 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 |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:29226600-29233800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 2 | chr12:29228000-29233800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 3 | chr12:29229600-29234000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
