Variant report
| Variant | esv3394756 |
|---|---|
| Chromosome Location | chr2:126408233-126408393 |
| 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:25 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs571816978 | chr2:126408241-126408242 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs184429716 | chr2:126408244-126408245 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs548005917 | chr2:126408257-126408258 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs67092139 | chr2:126408260-126408261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs113883294 | chr2:126408264-126408265 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs200244591 | chr2:126408271-126408272 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs111726756 | chr2:126408280-126408281 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs67004452 | chr2:126408289-126408290 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs199739016 | chr2:126408296-126408297 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs200466362 | chr2:126408303-126408304 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs571011826 | chr2:126408305-126408306 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs200522077 | chr2:126408308-126408309 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs201628231 | chr2:126408309-126408310 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs67880483 | chr2:126408311-126408312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs62158246 | chr2:126408312-126408313 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs200610257 | chr2:126408322-126408323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs12465987 | chr2:126408330-126408331 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs530336061 | chr2:126408337-126408338 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs71965854 | chr2:126408338-126408339 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs62158247 | chr2:126408353-126408354 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs80216227 | chr2:126408355-126408356 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs70976187 | chr2:126408357-126408358 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs6742898 | chr2:126408361-126408362 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs181884631 | chr2:126408382-126408383 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs534438070 | chr2:126408390-126408391 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| 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 |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Mowat-Wilson syndrome | 21572526 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| epilepsy | 18472482 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hepatocellular carcinoma | 16750200 | 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 |
| lymphocytic leukemia | 21291569 | 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 |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Mental retardation | 17621639 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Developmental delay | 21147756 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:126407000-126409800 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
