Variant report
| Variant | nsv583022 |
|---|---|
| Chromosome Location | chr2:127717477-127721058 |
| 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:24 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs116000489 | chr2:127720436-127720437 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs553758080 | chr2:127720438-127720439 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs183250487 | chr2:127720446-127720447 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs1828404 | chr2:127720474-127720475 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs114310267 | chr2:127720494-127720495 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs150943340 | chr2:127720500-127720501 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs529682097 | chr2:127720531-127720532 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs375438336 | chr2:127720540-127720541 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs539959936 | chr2:127720621-127720622 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs567160990 | chr2:127720651-127720652 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs561350370 | chr2:127720703-127720704 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs530238615 | chr2:127720741-127720742 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs186532470 | chr2:127720748-127720749 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs566896539 | chr2:127720807-127720808 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs532653805 | chr2:127720816-127720817 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs560145922 | chr2:127720821-127720822 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs150121987 | chr2:127720822-127720823 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs542258548 | chr2:127720839-127720840 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs569079697 | chr2:127720845-127720846 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs538064039 | chr2:127720944-127720945 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs528700386 | chr2:127720962-127720963 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs113250118 | chr2:127720984-127720985 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs568042362 | chr2:127720994-127720995 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs533935971 | chr2:127721027-127721028 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | 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 |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Mowat-Wilson syndrome | 21572526 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| epilepsy | 18472482 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hepatocellular carcinoma | 16750200 | 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 |
| lymphocytic leukemia | 21291569 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| myoclonus epilepsy | 18472482 | CNVD |
| Benign familial neonatal-infantile seizures | 18472482 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Mental retardation | 17621639 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:127720400-127722000 | Enhancers | Fetal Muscle Leg | muscle |
| 2 | chr2:127720600-127721600 | Enhancers | Skeletal Muscle Female | skeletal muscle |
| 3 | chr2:127720600-127722000 | Enhancers | Fetal Muscle Trunk | muscle |
| 4 | chr2:127720800-127721600 | Enhancers | Placenta | Placenta |
| 5 | chr2:127720800-127722000 | Enhancers | HSMMtube | muscle |
| 6 | chr2:127721000-127721400 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 7 | chr2:127721000-127721400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
