Variant report
| Variant | esv3451001 |
|---|---|
| Chromosome Location | chr2:185337257-185339255 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs371813708 | chr2:185337262-185337263 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs552222627 | chr2:185337283-185337284 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs543822639 | chr2:185337327-185337328 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs562548067 | chr2:185337369-185337370 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs534503346 | chr2:185337407-185337408 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs532884249 | chr2:185337419-185337420 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs188817743 | chr2:185337456-185337457 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs367710310 | chr2:185337529-185337530 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs559900726 | chr2:185337547-185337548 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs7574316 | chr2:185337562-185337563 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs548788218 | chr2:185337599-185337600 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs567402914 | chr2:185337604-185337605 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs538180040 | chr2:185337625-185337626 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs549903522 | chr2:185337639-185337640 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs117095702 | chr2:185337675-185337676 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs544123482 | chr2:185337715-185337716 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs80145777 | chr2:185337781-185337782 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs554271093 | chr2:185337785-185337786 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:60)
| 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 |
| Autism | 22543975 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Psychiatric disorder | 20548289 | CNVD |
| Psychosis | 20048749 | CNVD |
| Rectal cancer | 20877625 | CNVD |
| Schizophrenia | 20548289 | CNVD |
| anxiety disorder | 20548289 | CNVD |
| Autism | 20548289 | CNVD |
| Bipolar disorder | 20548289 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:185336800-185337800 | Enhancers | Sigmoid Colon | Sigmoid Colon |
| 2 | chr2:185337200-185337800 | Enhancers | Fetal Intestine Small | intestine |
