Variant report
| Variant | esv2367682 |
|---|---|
| Chromosome Location | chr4:19375884-19376397 |
| 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 | rs547926137 | chr4:19375893-19375894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs183927950 | chr4:19375896-19375897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs56180440 | chr4:19375937-19375938 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs113469311 | chr4:19375942-19375943 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs148397120 | chr4:19375985-19375986 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs571856940 | chr4:19376036-19376037 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs570409799 | chr4:19376055-19376056 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs537775562 | chr4:19376075-19376076 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs199839770 | chr4:19376080-19376081 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs200883114 | chr4:19376081-19376082 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs188870444 | chr4:19376138-19376139 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs574725857 | chr4:19376158-19376159 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs558313294 | chr4:19376179-19376180 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs192997157 | chr4:19376184-19376185 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs374013222 | chr4:19376191-19376192 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs369082225 | chr4:19376204-19376205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs62298661 | chr4:19376206-19376207 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs62298662 | chr4:19376242-19376243 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs183598652 | chr4:19376258-19376259 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs531710772 | chr4:19376312-19376313 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs543752926 | chr4:19376339-19376340 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs187110703 | chr4:19376367-19376368 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| Disease | PMID | Source |
|---|---|---|
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Wilms tumour | 21544195 | 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 |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Cancer | 21183584 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| Breast cancer | 17133270 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Melanoma | 22183965 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ovarian cancer | 17908972 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:19369200-19376800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
