Variant report
| Variant | esv3467021 |
|---|---|
| Chromosome Location | chr4:19057582-19058097 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs145851698 | chr4:19057629-19057630 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs35266574 | chr4:19057640-19057641 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs530700707 | chr4:19057655-19057656 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs549188622 | chr4:19057672-19057673 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs138686098 | chr4:19057686-19057687 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs142691218 | chr4:19057696-19057697 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs73112349 | chr4:19057740-19057741 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs189169227 | chr4:19057756-19057757 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs16898040 | chr4:19057763-19057764 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs534147950 | chr4:19057822-19057823 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs182413418 | chr4:19057843-19057844 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs557375553 | chr4:19057850-19057851 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs141553383 | chr4:19057854-19057855 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs16898041 | chr4:19057859-19057860 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs150881785 | chr4:19057867-19057868 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs553899526 | chr4:19057879-19057880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs62297864 | chr4:19057895-19057896 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs139343782 | chr4:19057926-19057927 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs577308015 | chr4:19057931-19057932 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs374869721 | chr4:19057969-19057970 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs144324707 | chr4:19058038-19058039 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs111290027 | chr4:19058039-19058040 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs146089012 | chr4:19058079-19058080 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:19056200-19057800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 2 | chr4:19057200-19057600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr4:19057600-19058000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 4 | chr4:19058000-19058600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
