Variant report
| Variant | nsv1010543 |
|---|---|
| Chromosome Location | chr2:185257041-185269058 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:185065862..185068679-chr2:185266062..185268642,2 | K562 | blood: | |
| 2 | chr2:185267016..185267836-chr3:27870668..27871485,2 | MCF-7 | breast: | |
| 3 | chr2:185265120..185267657-chr2:185268029..185269760,2 | K562 | blood: | |
| 4 | chr2:185265120..185267657-chr2:185268029..185269760,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs570588172 | chr2:185259401-185259402 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs542418127 | chr2:185259410-185259411 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs113992313 | chr2:185259411-185259412 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs150262023 | chr2:185259443-185259444 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs372459230 | chr2:185259444-185259445 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs534581815 | chr2:185259445-185259446 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs552522088 | chr2:185259490-185259491 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs552818013 | chr2:185259587-185259588 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs574404422 | chr2:185259626-185259627 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs535416457 | chr2:185259682-185259683 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs34959041 | chr2:185259695-185259696 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs371061126 | chr2:185259744-185259745 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs557078070 | chr2:185259759-185259760 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs565152693 | chr2:185259801-185259802 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs570712495 | chr2:185259831-185259832 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs532539211 | chr2:185259838-185259839 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs79444326 | chr2:185259842-185259843 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs571309295 | chr2:185259865-185259866 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs540845071 | chr2:185259901-185259902 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs562329482 | chr2:185259925-185259926 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs529616896 | chr2:185259999-185260000 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs181406385 | chr2:185260000-185260001 | 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 | chr2:185259400-185260000 | Enhancers | Liver | Liver |
