Variant report
| Variant | nsv519650 |
|---|---|
| Chromosome Location | chr11:18256521-18257017 |
| 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:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs2445176 | chr11:18256521-18256522 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs571510334 | chr11:18256524-18256525 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs542360079 | chr11:18256647-18256648 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs143652635 | chr11:18256672-18256673 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs557248982 | chr11:18256691-18256692 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs554646645 | chr11:18256822-18256823 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs75360442 | chr11:18256823-18256824 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs554163236 | chr11:18256889-18256890 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs200043117 | chr11:18256907-18256908 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs386373232 | chr11:18256908-18256909 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs386373233 | chr11:18256910-18256911 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs554291622 | chr11:18256933-18256934 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs572873945 | chr11:18256952-18256953 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs374934838 | chr11:18256961-18256962 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs7103430 | chr11:18256963-18256964 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs559510608 | chr11:18256972-18256973 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs577862749 | chr11:18256990-18256991 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs548308964 | chr11:18256997-18256998 | Transcr. at gene 5' and 3' Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs2956632 | chr11:18257017-18257018 | Enhancers Transcr. at gene 5' and 3' Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:53)
| Disease | PMID | Source |
|---|---|---|
| Cancer | 21183584 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Parathyroid adenoma | 22454399 | CNVD |
| Chordoma | 21602918 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Beckwith-Wiedemann syndrome | 21518781 | CNVD |
| Wilms tumour | 21518781 | CNVD |
| Hepatoblastoma | 21518781 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 22495311 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Uterine serous papillary cancer | 19536090 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:18250400-18257000 | Enhancers | HepG2 | liver |
| 2 | chr11:18255600-18257400 | Transcr. at gene 5' and 3' | Liver | Liver |
| 3 | chr11:18257000-18257400 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 4 | chr11:18257000-18258800 | Flanking Active TSS | HepG2 | liver |
