Variant report
| Variant | nsv522202 |
|---|---|
| Chromosome Location | chr4:27910643-27917029 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs532231125 | chr4:27912034-27912035 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs77217776 | chr4:27912090-27912091 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs5857031 | chr4:27912094-27912095 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs1026948 | chr4:27912107-27912108 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs530792837 | chr4:27912118-27912119 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs527697299 | chr4:27912124-27912125 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs76641519 | chr4:27912159-27912160 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs1026947 | chr4:27912160-27912161 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs530275532 | chr4:27912211-27912212 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs186954103 | chr4:27912237-27912238 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs140346790 | chr4:27912252-27912253 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs567164002 | chr4:27912253-27912254 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs1026946 | chr4:27912271-27912272 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs147940687 | chr4:27912281-27912282 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs78276482 | chr4:27912308-27912309 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs537827086 | chr4:27912331-27912332 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs554747771 | chr4:27912369-27912370 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs536021834 | chr4:27912382-27912383 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs192784365 | chr4:27917012-27917013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs575365436 | chr4:27917021-27917022 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs957956 | chr4:27917029-27917030 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:54)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 21183584 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | 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 |
| Cancer | 22183965 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:27912000-27912400 | Enhancers | Brain Substantia Nigra | brain |
| 2 | chr4:27917000-27923600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
