Variant report
| Variant | esv3460447 |
|---|---|
| Chromosome Location | chr2:40882457-40882578 |
| 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 | chr2:40869635..40872329-chr2:40880298..40882464,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:10 , 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 | rs567956465 | chr2:40882495-40882496 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs199802655 | chr2:40882496-40882497 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs368018974 | chr2:40882498-40882499 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs370187275 | chr2:40882499-40882500 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs373500062 | chr2:40882500-40882501 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs377472971 | chr2:40882505-40882506 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs370924359 | chr2:40882506-40882507 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs375159559 | chr2:40882507-40882508 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs183777720 | chr2:40882519-40882520 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs201386669 | chr2:40882558-40882559 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| 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 |
| 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 |
| 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 | 22495311 | CNVD |
| Autism | 19521722 | CNVD |
| Autism | 18522746 | CNVD |
| Non-small cell lung cancer | 18927303 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Lung cancer | 18438408 | 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 |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Williams Syndrome | 20824207 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:40880800-40883000 | Enhancers | Muscle Satellite Cultured Cells | -- |
| 2 | chr2:40882000-40882600 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 3 | chr2:40882400-40882800 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
