Variant report
| Variant | esv3413953 |
|---|---|
| Chromosome Location | chr2:33856037-33856369 |
| 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:22 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs35715088 | chr2:33856038-33856039 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs185910295 | chr2:33856088-33856089 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs149712256 | chr2:33856125-33856126 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs367594525 | chr2:33856131-33856132 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs189869878 | chr2:33856145-33856146 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs556117450 | chr2:33856175-33856176 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs145630023 | chr2:33856211-33856212 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs4670818 | chr2:33856252-33856253 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 9 | rs139368133 | chr2:33856256-33856257 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs527836832 | chr2:33856264-33856265 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs541634093 | chr2:33856273-33856274 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs560785961 | chr2:33856301-33856302 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs149890195 | chr2:33856310-33856311 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs76466827 | chr2:33856317-33856318 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs201273508 | chr2:33856319-33856320 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs372424359 | chr2:33856321-33856322 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs569664053 | chr2:33856331-33856332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs367740259 | chr2:33856352-33856353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs187063958 | chr2:33856353-33856354 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs552146750 | chr2:33856364-33856365 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs565965838 | chr2:33856365-33856366 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs191455934 | chr2:33856366-33856367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:60)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17393978 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Adrenal tumor | 17535989 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Medulloblastoma | 17522785 | CNVD |
| Cancer | 23418310 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Leukemia | 18628472 | CNVD |
| Autism | 19521722 | CNVD |
| Autism | 18522746 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Non-small cell lung cancer | 18927303 | CNVD |
| Hereditary gingival fibromatosis | 19633868 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21508638 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Autism | 22495309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:33845200-33859400 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 2 | chr2:33845200-33859600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr2:33855200-33859600 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
