Variant report
| Variant | nsv527778 |
|---|---|
| Chromosome Location | chr11:83620787-83620940 |
| 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:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs790356 | chr11:83620787-83620788 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | disease |
| 2 | rs138088208 | chr11:83620828-83620829 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs74780824 | chr11:83620838-83620839 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs61901827 | chr11:83620872-83620873 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs572657772 | chr11:83620887-83620888 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs61901828 | chr11:83620900-83620901 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs562853799 | chr11:83620909-83620910 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs187843594 | chr11:83620925-83620926 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs536461622 | chr11:83620934-83620935 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs790357 | chr11:83620940-83620941 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:80)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Cancer | 21637783 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Chronic lymphocytic leukemia | 21795749 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Neuroblastoma | 18923524 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Cancer | 16751803 | CNVD |
| Seminomas | 18059402 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Breast cancer | 17157792 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 22429812 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Melanoma | 19509136 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Hepatocellular carcinoma | 16785998 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Cancer | 22183965 | CNVD |
| Melanoma | 22183965 | CNVD |
| Cancer | 20164920 | CNVD |
| Obesity | 20622171 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Cancer | 20164919 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:83607200-83628800 | Weak transcription | Brain Angular Gyrus | brain |
| 2 | chr11:83608400-83620800 | Weak transcription | Brain Cingulate Gyrus | brain |
| 3 | chr11:83608400-83634600 | Weak transcription | Brain Hippocampus Middle | brain |
| 4 | chr11:83608800-83629400 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 5 | chr11:83618200-83641200 | Weak transcription | Brain Anterior Caudate | brain |
| 6 | chr11:83618800-83623600 | Enhancers | Liver | Liver |
| 7 | chr11:83620200-83622400 | Enhancers | Fetal Kidney | kidney |
| 8 | chr11:83620800-83621000 | Enhancers | Brain Cingulate Gyrus | brain |
