Variant report
| Variant | esv3414776 |
|---|---|
| Chromosome Location | chr2:186957044-186957403 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:186953883..186956490-chr2:186957329..186960004,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs529785142 | chr2:186957046-186957047 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs542386231 | chr2:186957071-186957072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs6747595 | chr2:186957095-186957096 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs139691096 | chr2:186957123-186957124 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs191523642 | chr2:186957173-186957174 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs370497454 | chr2:186957187-186957188 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs567610834 | chr2:186957207-186957208 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs182483151 | chr2:186957243-186957244 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs564392371 | chr2:186957270-186957271 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs528582973 | chr2:186957323-186957324 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs568527838 | chr2:186957361-186957362 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs533443060 | chr2:186957371-186957372 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs1386516 | chr2:186957383-186957384 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 14 | rs149772956 | chr2:186957384-186957385 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs187520286 | chr2:186957394-186957395 | 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 |
| Intellectual disability | 22102821 | 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:186956000-186968200 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
