Variant report
| Variant | nsv527419 |
|---|---|
| Chromosome Location | chr4:7480077-7480422 |
| 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:22 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs386671232 | chr4:7480077-7480078 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs114830927 | chr4:7480079-7480080 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs545286078 | chr4:7480105-7480106 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs189501236 | chr4:7480108-7480109 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs560494964 | chr4:7480118-7480119 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs527656040 | chr4:7480135-7480136 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs543169316 | chr4:7480146-7480147 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs561208308 | chr4:7480147-7480148 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs180831848 | chr4:7480250-7480251 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs369169049 | chr4:7480267-7480268 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs10937821 | chr4:7480271-7480272 | Weak transcription Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs537613067 | chr4:7480282-7480283 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs115409687 | chr4:7480297-7480298 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs547649583 | chr4:7480302-7480303 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs9647417 | chr4:7480303-7480304 | Weak transcription Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs73088061 | chr4:7480318-7480319 | Weak transcription Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs555480914 | chr4:7480332-7480333 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs75774400 | chr4:7480336-7480337 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs577835792 | chr4:7480398-7480399 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs10937822 | chr4:7480400-7480401 | Weak transcription Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs186763470 | chr4:7480407-7480408 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs10937823 | chr4:7480422-7480423 | Weak transcription Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:55)
| 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 |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:7471600-7480600 | Weak transcription | Brain Cingulate Gyrus | brain |
| 2 | chr4:7476000-7482800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr4:7480000-7480600 | Bivalent Enhancer | HepG2 | liver |
