Variant report
| Variant | esv3339339 |
|---|---|
| Chromosome Location | chr2:77534604-77535062 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs530512086 | chr2:77534633-77534634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs114702047 | chr2:77534641-77534642 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs67621975 | chr2:77534653-77534654 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs563965367 | chr2:77534688-77534689 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs558316201 | chr2:77534706-77534707 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs13028297 | chr2:77534808-77534809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs60916964 | chr2:77534810-77534811 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs61486428 | chr2:77534812-77534813 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs58708170 | chr2:77534829-77534830 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs60104270 | chr2:77534837-77534838 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs9752201 | chr2:77534843-77534844 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs57567391 | chr2:77534851-77534852 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs58327441 | chr2:77534856-77534857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs61409611 | chr2:77534864-77534865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs9752208 | chr2:77534878-77534879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs61228927 | chr2:77534893-77534894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs61172637 | chr2:77534899-77534900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs60666776 | chr2:77534907-77534908 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs9752211 | chr2:77534913-77534914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs58929077 | chr2:77534914-77534915 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs59036389 | chr2:77534935-77534936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | 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 |
| Medulloblastoma | 21979893 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 18522746 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Basal cell lymphoma | 19029149 | CNVD |
| Diffuse large b-cell lymphoma | 19029149 | CNVD |
| Cancer | 17440070 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Attention deficit hyperactivity disorder | 21324949 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Epilepsy | 22083797 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:77529800-77535400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
