Variant report
| Variant | nsv555098 |
|---|---|
| Chromosome Location | chr11:56299566-56300082 |
| 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 | rs12290501 | chr11:56299566-56299567 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs182635426 | chr11:56299607-56299608 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs568221700 | chr11:56299612-56299613 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs535323833 | chr11:56299613-56299614 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs143210312 | chr11:56299617-56299618 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs569020175 | chr11:56299633-56299634 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs187561578 | chr11:56299636-56299637 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs557744952 | chr11:56299644-56299645 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs572891333 | chr11:56299795-56299796 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs116039254 | chr11:56299815-56299816 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs555821444 | chr11:56299835-56299836 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs577791686 | chr11:56299846-56299847 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs574169590 | chr11:56299883-56299884 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs544527377 | chr11:56299886-56299887 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs556721748 | chr11:56299921-56299922 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs588805 | chr11:56299930-56299931 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 17 | rs545117658 | chr11:56299951-56299952 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs556242129 | chr11:56299979-56299980 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs527705982 | chr11:56300006-56300007 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs540503862 | chr11:56300026-56300027 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs193297592 | chr11:56300027-56300028 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs115536663 | chr11:56300033-56300034 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs11606988 | chr11:56300082-56300083 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:47)
| 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 |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:56298400-56302000 | Enhancers | Fetal Intestine Large | intestine |
| 2 | chr11:56299400-56301200 | Enhancers | Fetal Intestine Small | intestine |
| 3 | chr11:56299800-56300600 | Enhancers | Colonic Mucosa | Colon |
| 4 | chr11:56299800-56300600 | Enhancers | Rectal Mucosa Donor 29 | rectum |
| 5 | chr11:56299800-56301000 | Enhancers | Rectal Mucosa Donor 31 | rectum |
