Variant report
| Variant | esv1804378 |
|---|---|
| Chromosome Location | chr11:105293799-105303595 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:105299823..105303102-chr11:105303388..105305911,3 | K562 | blood: | |
| 2 | chr11:105301019..105303725-chr11:105389805..105392123,2 | K562 | blood: | |
| 3 | chr11:105299823..105303102-chr11:105303388..105305911,3 | K562 | blood: | |
| 4 | chr11:105292508..105294409-chr11:105300295..105302519,2 | K562 | blood: | |
| 5 | chr11:105292508..105294409-chr11:105300295..105302519,2 | K562 | blood: | |
| 6 | chr11:105290478..105293249-chr11:105293833..105296048,2 | K562 | blood: |
| 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 | rs7947277 | chr11:105301479-105301480 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs376575544 | chr11:105301494-105301495 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs369593202 | chr11:105301522-105301523 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs141420497 | chr11:105301673-105301674 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs150822448 | chr11:105301736-105301737 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs192722059 | chr11:105301741-105301742 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs528540980 | chr11:105301749-105301750 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs546789678 | chr11:105301783-105301784 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs568662862 | chr11:105301829-105301830 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs138353182 | chr11:105301831-105301832 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs557533624 | chr11:105301839-105301840 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs184344880 | chr11:105301876-105301877 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs190790104 | chr11:105301905-105301906 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs374321572 | chr11:105301930-105301931 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs377739954 | chr11:105301987-105301988 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs533625964 | chr11:105303007-105303008 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs551795497 | chr11:105303060-105303061 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs570417764 | chr11:105303083-105303084 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs146134582 | chr11:105303084-105303085 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs565555364 | chr11:105303121-105303122 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs532657387 | chr11:105303145-105303146 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs181492388 | chr11:105303149-105303150 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs567849994 | chr11:105303162-105303163 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs535196300 | chr11:105303188-105303189 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:96)
| 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 |
| Renal cell carcinoma | 18194544 | 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 |
| low-grade B-cell lymphoma tumor | 18367492 | 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 |
| Melanoma | 17363583 | 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 |
| Obesity | 19966786 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 17142309 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:105301400-105301800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 2 | chr11:105301600-105302000 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 3 | chr11:105303000-105303200 | Enhancers | Pancreas | Pancrea |
