Variant report
| Variant | esv3442146 |
|---|---|
| Chromosome Location | chr2:151843633-151843945 |
| 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:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs35569352 | chr2:151843665-151843666 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs373627435 | chr2:151843682-151843683 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs57676538 | chr2:151843725-151843726 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs541472174 | chr2:151843782-151843783 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs182139330 | chr2:151843848-151843849 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs578064740 | chr2:151843856-151843857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs560596437 | chr2:151843891-151843892 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:49)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 18522746 | 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 |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| epilepsy | 18472482 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| myoclonus epilepsy | 18472482 | CNVD |
| Benign familial neonatal-infantile seizures | 18472482 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Mental retardation | 22214275 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 18179710 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Mental retardation | 19156171 | CNVD |
| Acute myeloid leukemia | 18000384 | CNVD |
| Autism | 20808228 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:151843200-151843800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 2 | chr2:151843800-151871000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
