Variant report
| Variant | nsv438191 |
|---|---|
| Chromosome Location | chr12:12139785-12146004 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:11801874..11803693-chr12:12145679..12148556,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000139083 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs4763744 | chr12:12139785-12139786 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs10772521 | chr12:12139786-12139787 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs537514778 | chr12:12139800-12139801 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs555725088 | chr12:12139836-12139837 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs573985996 | chr12:12139885-12139886 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs139784129 | chr12:12139959-12139960 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs145737695 | chr12:12139960-12139961 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs10772522 | chr12:12139962-12139963 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs199666970 | chr12:12139963-12139964 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs11423800 | chr12:12139978-12139979 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs199523077 | chr12:12139979-12139980 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs542517209 | chr12:12140008-12140009 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs181303906 | chr12:12140014-12140015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs541774613 | chr12:12140020-12140021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs553688918 | chr12:12140063-12140064 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs144415044 | chr12:12140143-12140144 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs559315364 | chr12:12140163-12140164 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs377396574 | chr12:12140177-12140178 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs545835781 | chr12:12140179-12140180 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs10743974 | chr12:12140225-12140226 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs551335747 | chr12:12140244-12140245 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs531315879 | chr12:12140250-12140251 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs142749389 | chr12:12140291-12140292 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs35467261 | chr12:12140293-12140294 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs140013011 | chr12:12140313-12140314 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs55709903 | chr12:12140330-12140331 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs561778980 | chr12:12140373-12140374 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs529061664 | chr12:12140388-12140389 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs112721954 | chr12:12140418-12140419 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs564674356 | chr12:12140434-12140435 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs200805357 | chr12:12140469-12140470 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs544074059 | chr12:12140470-12140471 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs186365865 | chr12:12140491-12140492 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs116717899 | chr12:12140502-12140503 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs533013566 | chr12:12140528-12140529 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs561937341 | chr12:12140584-12140585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs530512801 | chr12:12140608-12140609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs6488477 | chr12:12140614-12140615 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 39 | rs567475854 | chr12:12140620-12140621 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs7954303 | chr12:12140630-12140631 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 41 | rs555810766 | chr12:12140718-12140719 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs7968948 | chr12:12140746-12140747 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 43 | rs7968953 | chr12:12140765-12140766 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 44 | rs143625257 | chr12:12140790-12140791 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs190864646 | chr12:12140809-12140810 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs150370815 | chr12:12140822-12140823 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs578250251 | chr12:12140834-12140835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs180810970 | chr12:12140838-12140839 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs377391615 | chr12:12140863-12140864 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs12367008 | chr12:12140879-12140880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:96)
| 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 |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | 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 |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Lung cancer | 18438408 | 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 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 |
| Ovarian cancer | 21720365 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 19039135 | CNVD |
| Acute lymphoblastic leukemia | 19129520 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| Myelodysplastic syndrome | 22875624 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Glioma | 20126413 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:12136200-12145400 | Weak transcription | Fetal Brain Male | brain |
| 2 | chr12:12138200-12145800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr12:12139400-12144200 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 4 | chr12:12141000-12141600 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 5 | chr12:12141600-12144000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 6 | chr12:12144000-12144400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 7 | chr12:12144000-12145200 | Enhancers | HSMM | muscle |
| 8 | chr12:12144000-12145400 | Enhancers | Fetal Muscle Leg | muscle |
| 9 | chr12:12144200-12144400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 10 | chr12:12144200-12145400 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 11 | chr12:12144400-12144600 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 12 | chr12:12144400-12144800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 13 | chr12:12144400-12144800 | Enhancers | Placenta Amnion | Placenta Amnion |
| 14 | chr12:12144400-12145000 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 15 | chr12:12144400-12145400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 16 | chr12:12144600-12151400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 17 | chr12:12145400-12145600 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 18 | chr12:12145400-12145600 | Enhancers | Fetal Brain Male | brain |
| 19 | chr12:12145800-12146800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
