Variant report
| Variant | esv2313193 |
|---|---|
| Chromosome Location | chr4:21694546-21695035 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs369927076 | chr4:21694597-21694598 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs186460828 | chr4:21694625-21694626 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs560292325 | chr4:21694689-21694690 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs139912263 | chr4:21694708-21694709 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs531982376 | chr4:21694725-21694726 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs386672424 | chr4:21694731-21694732 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs376865451 | chr4:21694733-21694734 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs370405097 | chr4:21694734-21694735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs373604532 | chr4:21694735-21694736 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs540277435 | chr4:21694780-21694781 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs551757575 | chr4:21694911-21694912 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs548430579 | chr4:21694938-21694939 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs190103567 | chr4:21694965-21694966 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs544202078 | chr4:21694966-21694967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs558981199 | chr4:21695005-21695006 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs370790300 | chr4:21695012-21695013 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs530962638 | chr4:21695016-21695017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Oral squamous cell carcinoma | 17134496 | 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 |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Melanoma | 22183965 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Cancer | 22183965 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:21693600-21694600 | Enhancers | Fetal Lung | lung |
| 2 | chr4:21693800-21694600 | Enhancers | Colon Smooth Muscle | Colon |
| 3 | chr4:21694000-21699200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 4 | chr4:21694600-21698600 | Weak transcription | Fetal Lung | lung |
| 5 | chr4:21694600-21699200 | Weak transcription | Colon Smooth Muscle | Colon |
