Variant report
| Variant | esv3354012 |
|---|---|
| Chromosome Location | chr2:125521832-125524030 |
| 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:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs962718 | chr2:125521847-125521848 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs151291397 | chr2:125521855-125521856 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs191213875 | chr2:125521864-125521865 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs571788649 | chr2:125521877-125521878 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs540762716 | chr2:125521887-125521888 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs564046323 | chr2:125521891-125521892 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs533519894 | chr2:125521894-125521895 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs139147921 | chr2:125521911-125521912 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs367745774 | chr2:125521915-125521916 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs183215110 | chr2:125521924-125521925 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs962200 | chr2:125521945-125521946 | Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs529660267 | chr2:125521968-125521969 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs78245044 | chr2:125522144-125522145 | Enhancers Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs566111978 | chr2:125522146-125522147 | Enhancers Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs535031301 | chr2:125522154-125522155 | Enhancers Flanking Active TSS Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| 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 |
| Bladder cancer | 21909424 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:125521000-125522000 | Active TSS | Brain Angular Gyrus | brain |
| 2 | chr2:125521000-125522000 | Active TSS | Brain Anterior Caudate | brain |
| 3 | chr2:125521000-125522000 | Active TSS | Brain Cingulate Gyrus | brain |
| 4 | chr2:125521000-125522000 | Active TSS | Brain Hippocampus Middle | brain |
| 5 | chr2:125521000-125522200 | Active TSS | Brain Substantia Nigra | brain |
| 6 | chr2:125521600-125522200 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
| 7 | chr2:125522000-125522200 | Flanking Active TSS | Brain Hippocampus Middle | brain |
