Variant report
| Variant | esv2474817 |
|---|---|
| Chromosome Location | chr12:10952542-10953752 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:10951582..10953191-chr12:10954611..10956191,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000121377 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs190405086 | chr12:10952542-10952543 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs563181698 | chr12:10952608-10952609 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs369809768 | chr12:10952623-10952624 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs182390044 | chr12:10952642-10952643 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs144913041 | chr12:10952658-10952659 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs541600461 | chr12:10952666-10952667 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs561890902 | chr12:10952667-10952668 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs559620059 | chr12:10952679-10952680 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs539641989 | chr12:10952685-10952686 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs186254144 | chr12:10952686-10952687 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs375349139 | chr12:10952690-10952691 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs571124516 | chr12:10952703-10952704 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs564031890 | chr12:10952715-10952716 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs532956241 | chr12:10952784-10952785 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs546660514 | chr12:10952807-10952808 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs190575339 | chr12:10952835-10952836 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs532008538 | chr12:10952865-10952866 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs148632963 | chr12:10952866-10952867 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs568598939 | chr12:10952910-10952911 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs542562174 | chr12:10952912-10952913 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs34212148 | chr12:10953022-10953023 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs74060671 | chr12:10953025-10953026 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs115115000 | chr12:10953037-10953038 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs2588350 | chr12:10953057-10953058 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 25 | rs552974167 | chr12:10953058-10953059 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs572920559 | chr12:10953113-10953114 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:94)
| Disease | PMID | Source |
|---|---|---|
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Cancer | 21183584 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Prostate cancer | 19156837 | CNVD |
| Emphysema | 19352772 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Malignant germ cell tumour | 17285132 | CNVD |
| Melanoma | 18172304 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cancer | 16751803 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Seminomas | 18059402 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Squamous cell cancer | 19607727 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Acute lymphoblastic leukemia | 19100363 | CNVD |
| Acute myeloid leukemia | 17268525 | CNVD |
| Acute monocytic leukemia | 16498392 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Ependymoma | 18628472 | CNVD |
| Leukemia | 18628472 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Melanoma | 20877625 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Acute myeloid leukemia | 17237825 | CNVD |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
