Variant report
| Variant | esv1113744 |
|---|---|
| Chromosome Location | chr2:168369117-168369145 |
| 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 | rs190838223 | chr2:168369117-168369118 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs563065865 | chr2:168369118-168369119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs200504901 | chr2:168369129-168369130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs541258735 | chr2:168369130-168369131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs372892528 | chr2:168369131-168369132 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs202089193 | chr2:168369134-168369135 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs71031293 | chr2:168369145-168369146 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:48)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | 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 |
| 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 |
| 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 |
| Lung cancer | 18438408 | CNVD |
| Mental retardation | 22214275 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Autism | 18414403 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Neonatal seizures | 20384724 | CNVD |
| severe myoclonic epilepsy of infancy | 18294202 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:168366600-168384800 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 2 | chr2:168366800-168374200 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
| 3 | chr2:168367000-168385200 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 4 | chr2:168367200-168371200 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 5 | chr2:168367200-168371200 | Weak transcription | Muscle Satellite Cultured Cells | -- |
