Variant report
| Variant | esv3408753 |
|---|---|
| Chromosome Location | chr2:181698207-181704455 |
| 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:22 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs374692583 | chr2:181704041-181704042 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs367834746 | chr2:181704053-181704054 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs371675738 | chr2:181704090-181704091 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs572515528 | chr2:181704100-181704101 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs6761806 | chr2:181704111-181704112 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs6433862 | chr2:181704132-181704133 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs6761817 | chr2:181704152-181704153 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs571639299 | chr2:181704170-181704171 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs537445553 | chr2:181704186-181704187 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs551054138 | chr2:181704211-181704212 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs567750498 | chr2:181704212-181704213 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs536389670 | chr2:181704223-181704224 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs58223344 | chr2:181704230-181704231 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs573390016 | chr2:181704245-181704246 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs539293773 | chr2:181704250-181704251 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs369868277 | chr2:181704256-181704257 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs558829210 | chr2:181704315-181704316 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs189749287 | chr2:181704352-181704353 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs543799319 | chr2:181704357-181704358 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs181306157 | chr2:181704385-181704386 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs74628700 | chr2:181704397-181704398 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs189912677 | chr2:181704449-181704450 | Active TSS Enhancers | 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 |
| Intellectual disability | 22102821 | CNVD |
| Autism | 18522746 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Seminomas | 18059402 | 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 |
| Sudden cardiac death | 19188705 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Mental retardation | 21062444 | 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 |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:181704000-181704600 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr2:181704000-181704800 | Active TSS | HUES6 Cell Line | embryonic stem cell |
| 3 | chr2:181704200-181704600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 4 | chr2:181704400-181704800 | Active TSS | K562 | blood |
