Variant report
| Variant | nsv821855 |
|---|---|
| Chromosome Location | chr2:189029114-189029572 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs564624556 | chr2:189029146-189029147 | Active TSS Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs532203598 | chr2:189029199-189029200 | Active TSS Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs530213236 | chr2:189029203-189029204 | Active TSS Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs192461462 | chr2:189029293-189029294 | Active TSS Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs72911800 | chr2:189029300-189029301 | Active TSS Strong transcription Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs371578856 | chr2:189029347-189029348 | Active TSS Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs1439904 | chr2:189029351-189029352 | Active TSS Strong transcription Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs549364308 | chr2:189029358-189029359 | Active TSS Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs1439903 | chr2:189029385-189029386 | Active TSS Strong transcription Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs1439902 | chr2:189029420-189029421 | Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs550330182 | chr2:189029450-189029451 | Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs571746885 | chr2:189029491-189029492 | Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs539256179 | chr2:189029509-189029510 | Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs71434630 | chr2:189029528-189029529 | Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs572706968 | chr2:189029544-189029545 | Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs144623780 | chr2:189029550-189029551 | Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs555234303 | chr2:189029563-189029564 | Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs575666605 | chr2:189029569-189029570 | Active TSS ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:50)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Facial dysmorphism | 20548289 | CNVD |
| Mental retardation | 20548289 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Autism | 19329560 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:189025800-189030800 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr2:189026000-189029400 | Strong transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr2:189028600-189031200 | Active TSS | HUES6 Cell Line | embryonic stem cell |
| 4 | chr2:189029000-189030400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 5 | chr2:189029400-189032400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
