Variant report
| Variant | esv3450131 |
|---|---|
| Chromosome Location | chr2:188180004-188180181 |
| 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 | chr2:188179679..188182159-chr2:188184415..188186221,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs539137185 | chr2:188180007-188180008 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs143623459 | chr2:188180008-188180009 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs191914797 | chr2:188180037-188180038 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs553475837 | chr2:188180070-188180071 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs144519991 | chr2:188180075-188180076 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs542600899 | chr2:188180078-188180079 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs113359029 | chr2:188180087-188180088 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs60704289 | chr2:188180090-188180091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs11904285 | chr2:188180094-188180095 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs550869635 | chr2:188180155-188180156 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs569572176 | chr2:188180156-188180157 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs550819562 | chr2:188180171-188180172 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs374002119 | chr2:188180174-188180175 | 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 |
| early-passage human iPS cells | 21368824 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:188175800-188180800 | Weak transcription | HUVEC | blood vessel |
