Variant report
| Variant | nsv527352 |
|---|---|
| Chromosome Location | chr11:107140077-107140595 |
| 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:22 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs12224337 | chr11:107140077-107140078 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs374564097 | chr11:107140170-107140171 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs556642539 | chr11:107140200-107140201 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs563789803 | chr11:107140233-107140234 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs74634202 | chr11:107140234-107140235 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs545480474 | chr11:107140258-107140259 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs560389088 | chr11:107140259-107140260 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs572967865 | chr11:107140297-107140298 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs146641941 | chr11:107140372-107140373 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs140812513 | chr11:107140386-107140387 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs200565626 | chr11:107140388-107140389 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs540085687 | chr11:107140389-107140390 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs200116790 | chr11:107140391-107140392 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs572016666 | chr11:107140392-107140393 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs529195610 | chr11:107140395-107140396 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs35747971 | chr11:107140432-107140433 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs550149633 | chr11:107140433-107140434 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs187030220 | chr11:107140477-107140478 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs562102566 | chr11:107140479-107140480 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs7946787 | chr11:107140547-107140548 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs369294578 | chr11:107140552-107140553 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs7111266 | chr11:107140595-107140596 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:90)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | 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 |
| Glioblastoma multiforme | 21080181 | CNVD |
| Cancer | 16751803 | CNVD |
| Seminomas | 18059402 | CNVD |
| Cervical cancer | 21062161 | 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 |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 22429812 | CNVD |
| Breast cancer | 16608533 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | 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 |
| Breast cancer | 21958427 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 17603634 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Basal cell lymphoma | 16790693 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Ovarian clear cell carcinoma | 19293255 | CNVD |
| Mental retardation | 19966786 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Chronic lymphocytic leukemia | 17805327 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Neuroblastoma | 17327916 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Mantle cell lymphoma | 19029149 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Malignant melanoma | 17260012 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Obesity | 19966786 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Cancer | 20164920 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:107139400-107140200 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 2 | chr11:107139400-107140200 | Enhancers | Brain Germinal Matrix | brain |
| 3 | chr11:107139400-107143800 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 4 | chr11:107139800-107140200 | Enhancers | Fetal Brain Male | brain |
| 5 | chr11:107139800-107140800 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 6 | chr11:107140000-107141400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 7 | chr11:107140200-107141600 | Weak transcription | Brain Germinal Matrix | brain |
| 8 | chr11:107140200-107146800 | Weak transcription | Fetal Brain Male | brain |
