Variant report
| Variant | esv3334904 |
|---|---|
| Chromosome Location | chr2:36188315-36188821 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs112750673 | chr2:36188327-36188328 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs536370155 | chr2:36188406-36188407 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs570837037 | chr2:36188410-36188411 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs538389358 | chr2:36188418-36188419 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs556683162 | chr2:36188442-36188443 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs547840873 | chr2:36188465-36188466 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs138121965 | chr2:36188491-36188492 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs537069525 | chr2:36188517-36188518 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs142713208 | chr2:36188548-36188549 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs144755081 | chr2:36188627-36188628 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs572666558 | chr2:36188651-36188652 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs546165002 | chr2:36188684-36188685 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs372084781 | chr2:36188705-36188706 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs149814255 | chr2:36188708-36188709 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs72542340 | chr2:36188709-36188710 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs200521067 | chr2:36188710-36188711 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs66459814 | chr2:36188711-36188712 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs13402895 | chr2:36188807-36188808 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:62)
| 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 |
| 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 |
| Breast cancer | 21785460 | CNVD |
| Lung cancer | 18438408 | 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 |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:36186800-36189200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 2 | chr2:36187800-36188800 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 3 | chr2:36187800-36189200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 4 | chr2:36187800-36189400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 5 | chr2:36188000-36188800 | Enhancers | Fetal Brain Female | brain |
| 6 | chr2:36188200-36189400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 7 | chr2:36188400-36188600 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 8 | chr2:36188800-36189800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
