Variant report
| Variant | esv3338710 |
|---|---|
| Chromosome Location | chr4:19144304-19145652 |
| 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:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs552642098 | chr4:19145231-19145232 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs9993894 | chr4:19145303-19145304 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs141842441 | chr4:19145386-19145387 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs550415139 | chr4:19145412-19145413 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs28504985 | chr4:19145425-19145426 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs192517070 | chr4:19145427-19145428 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs112462468 | chr4:19145443-19145444 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs566272522 | chr4:19145450-19145451 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs150604750 | chr4:19145451-19145452 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs113536209 | chr4:19145471-19145472 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs183099499 | chr4:19145544-19145545 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs188456128 | chr4:19145568-19145569 | Enhancers | 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 | chr4:19145200-19145600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr4:19145200-19145600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 3 | chr4:19145200-19145600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 4 | chr4:19145200-19145800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
