Variant report
| Variant | nsv525342 |
|---|---|
| Chromosome Location | chr2:177804702-177804965 |
| 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 | chr2:177803088..177805941-chr2:177807246..177810006,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:15 , 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 | rs6710025 | chr2:177804702-177804703 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs144131129 | chr2:177804707-177804708 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs11885605 | chr2:177804711-177804712 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs373069944 | chr2:177804727-177804728 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs547866463 | chr2:177804737-177804738 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs559883477 | chr2:177804827-177804828 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs115070647 | chr2:177804835-177804836 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs76753119 | chr2:177804857-177804858 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs569882503 | chr2:177804881-177804882 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs537326654 | chr2:177804884-177804885 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs147325521 | chr2:177804902-177804903 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs140962704 | chr2:177804930-177804931 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs534413195 | chr2:177804934-177804935 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs1370538 | chr2:177804944-177804945 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs1370539 | chr2:177804965-177804966 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
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 |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Seminomas | 18059402 | 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 |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 18923514 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Facial dysmorphism | 20548289 | CNVD |
| Mental retardation | 20548289 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:177801600-177805200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 2 | chr2:177802000-177805200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 3 | chr2:177802200-177805200 | Weak transcription | Primary monocytes fromperipheralblood | blood |
| 4 | chr2:177802200-177805400 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
| 5 | chr2:177803200-177805000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 6 | chr2:177803800-177804800 | Weak transcription | GM12878-XiMat | blood |
| 7 | chr2:177804800-177805600 | Enhancers | GM12878-XiMat | blood |
