Variant report
| Variant | esv1661122 |
|---|---|
| Chromosome Location | chr4:7527527-7527558 |
| 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 | chr4:7524802..7527211-chr4:7527477..7529278,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs386671243 | chr4:7527528-7527529 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs542576968 | chr4:7527533-7527534 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs73082865 | chr4:7527537-7527538 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs576163158 | chr4:7527547-7527548 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs115712319 | chr4:7527548-7527549 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs144008367 | chr4:7527553-7527554 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Melanoma | 20688739 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Cancer | 21637783 | CNVD |
| Melanoma | 21693616 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chordoma | 21602918 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Autosomal-dominant microtia | 18179897 | CNVD |
| Glioma | 17123091 | CNVD |
| Colorectal cancer | 20459617 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Melanoma | 20877625 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:7521000-7527600 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
| 2 | chr4:7525800-7529200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr4:7526200-7528800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 4 | chr4:7527400-7527600 | Enhancers | Primary T killer naive cells fromperipheralblood | blood |
