Variant report
| Variant | nsv499490 |
|---|---|
| Chromosome Location | chr11:56143570-56143690 |
| 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:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs11228169 | chr11:56143570-56143571 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs368646710 | chr11:56143580-56143581 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs535481699 | chr11:56143585-56143586 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs548459520 | chr11:56143590-56143591 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs17150411 | chr11:56143592-56143593 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs201539171 | chr11:56143593-56143594 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs200941869 | chr11:56143623-56143624 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs202218073 | chr11:56143625-56143626 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs200683535 | chr11:56143632-56143633 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs537232927 | chr11:56143640-56143641 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs371671835 | chr11:56143643-56143644 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs376420584 | chr11:56143676-56143677 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs4990123 | chr11:56143690-56143691 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:46)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Autism | 22495311 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Cancer | 20164919 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 21637783 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Chronic lymphocytic leukemia | 21795749 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Neuroblastoma | 18923524 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Pituitary adenoma | 18645599 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:56143200-56143800 | Active TSS | Brain Substantia Nigra | brain |
