Variant report
| Variant | esv2193820 |
|---|---|
| Chromosome Location | chr2:184152049-184152437 |
| 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:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs201511786 | chr2:184152060-184152061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs56812272 | chr2:184152097-184152098 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs530241712 | chr2:184152109-184152110 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs546745241 | chr2:184152201-184152202 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs373090039 | chr2:184152228-184152229 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs201550547 | chr2:184152230-184152231 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs546930335 | chr2:184152232-184152233 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs61500322 | chr2:184152238-184152239 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs139780985 | chr2:184152255-184152256 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs569001154 | chr2:184152333-184152334 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs537569190 | chr2:184152334-184152335 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs184297788 | chr2:184152335-184152336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs372986274 | chr2:184152355-184152356 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs140631997 | chr2:184152366-184152367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs569136670 | chr2:184152399-184152400 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs186764141 | chr2:184152400-184152401 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:49)
| 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 |
| 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 |
| low-grade B-cell lymphoma tumor | 18367492 | 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:184142200-184158400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr2:184150200-184155600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 3 | chr2:184150600-184155600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 4 | chr2:184150600-184155800 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 5 | chr2:184150800-184155800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 6 | chr2:184150800-184155800 | Weak transcription | HMEC | breast |
| 7 | chr2:184151400-184155800 | Weak transcription | NHEK | skin |
| 8 | chr2:184151800-184154600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
