Variant report
| Variant | esv3445425 |
|---|---|
| Chromosome Location | chr2:211250327-211250821 |
| 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:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs552425952 | chr2:211250415-211250416 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs573376414 | chr2:211250427-211250428 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs191830929 | chr2:211250466-211250467 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs543149949 | chr2:211250507-211250508 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs35920560 | chr2:211250510-211250511 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs545380627 | chr2:211250528-211250529 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs150629121 | chr2:211250599-211250600 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs3863852 | chr2:211250602-211250603 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs373494255 | chr2:211250620-211250621 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs376535832 | chr2:211250622-211250623 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs370627005 | chr2:211250623-211250624 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs530355766 | chr2:211250632-211250633 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs546796391 | chr2:211250678-211250679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs566192244 | chr2:211250763-211250764 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs140842793 | chr2:211250813-211250814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Breast cancer | 17603634 | 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 |
| Lung cancer | 18438408 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | 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 |
| Urothelial carcinoma | 21177765 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Autism | 20808228 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Ovarian cancer | 19193619 | CNVD |
| Non-small cell lung cancer | 18676828 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Chordoma | 18071362 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 18923514 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:211250400-211250600 | Enhancers | HSMMtube | muscle |
| 2 | chr2:211250600-211256000 | Weak transcription | HSMMtube | muscle |
