Variant report
| Variant | esv3363847 |
|---|---|
| Chromosome Location | chr2:153154251-153154663 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:153141284..153143748-chr2:153154263..153155767,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs533846589 | chr2:153154291-153154292 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs113907055 | chr2:153154301-153154302 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs13416990 | chr2:153154341-153154342 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs138726049 | chr2:153154361-153154362 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs188845551 | chr2:153154444-153154445 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs148904737 | chr2:153154502-153154503 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs181643294 | chr2:153154507-153154508 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs199752053 | chr2:153154538-153154539 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs7568759 | chr2:153154612-153154613 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:51)
| 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 |
| early-passage human iPS cells | 21368824 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:153154200-153155600 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
| 2 | chr2:153154600-153156000 | Enhancers | Cortex derived primary cultured neurospheres | brain |
