Variant report
| Variant | esv3401312 |
|---|---|
| Chromosome Location | chr2:78055240-78055458 |
| 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:11 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs528826498 | chr2:78055263-78055264 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs13396026 | chr2:78055265-78055266 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs386355071 | chr2:78055298-78055299 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs72815143 | chr2:78055299-78055300 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs116090473 | chr2:78055309-78055310 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs577966147 | chr2:78055327-78055328 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs147801370 | chr2:78055358-78055359 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs184854120 | chr2:78055379-78055380 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs572714395 | chr2:78055387-78055388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs10084258 | chr2:78055394-78055395 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs561792647 | chr2:78055410-78055411 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| 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 |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Lung cancer | 18438408 | 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 |
| Epilepsy | 22083797 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:78049600-78055600 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 2 | chr2:78050800-78058000 | Weak transcription | HepG2 | liver |
| 3 | chr2:78052400-78058000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 4 | chr2:78055400-78057000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
