Variant report
| Variant | nsv1041312 |
|---|---|
| Chromosome Location | chr12:38053225-38437819 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
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| Variant related genes | Relation type |
|---|---|
| ENSG00000175548 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs560559137 | chr12:38053239-38053240 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs529914244 | chr12:38053241-38053242 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs74576668 | chr12:38053244-38053245 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs77000849 | chr12:38053250-38053251 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs79046438 | chr12:38053254-38053255 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs529362830 | chr12:38053264-38053265 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs59216175 | chr12:38053278-38053279 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs569128010 | chr12:38053310-38053311 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs538252128 | chr12:38053314-38053315 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs199517882 | chr12:38053317-38053318 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs2703675 | chr12:38053321-38053322 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs571937921 | chr12:38053323-38053324 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs367801548 | chr12:38053330-38053331 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs534125408 | chr12:38053333-38053334 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs553988400 | chr12:38053335-38053336 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs548319058 | chr12:38053341-38053342 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs111325117 | chr12:38053349-38053350 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs11835167 | chr12:38053353-38053354 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs79254102 | chr12:38053377-38053378 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs180919776 | chr12:38053385-38053386 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs113461015 | chr12:38053422-38053423 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs144575936 | chr12:38053435-38053436 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs563671052 | chr12:38053436-38053437 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs141728305 | chr12:38053440-38053441 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs147234868 | chr12:38053443-38053444 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs146610816 | chr12:38053446-38053447 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs374088368 | chr12:38053450-38053451 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs11837115 | chr12:38053469-38053470 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs201956878 | chr12:38053471-38053472 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs541340401 | chr12:38053473-38053474 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs561016152 | chr12:38053486-38053487 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs529934932 | chr12:38053494-38053495 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs150306959 | chr12:38053506-38053507 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs549462159 | chr12:38053517-38053518 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs563036001 | chr12:38053539-38053540 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs531587744 | chr12:38053540-38053541 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs530922949 | chr12:38053568-38053569 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs138839692 | chr12:38053569-38053570 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs139287178 | chr12:38053572-38053573 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs11519834 | chr12:38053575-38053576 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 41 | rs186198459 | chr12:38053577-38053578 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs145859462 | chr12:38053580-38053581 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs373610186 | chr12:38053587-38053588 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs571841959 | chr12:38053588-38053589 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs527938671 | chr12:38053590-38053591 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs199813361 | chr12:38053593-38053594 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs11514188 | chr12:38053595-38053596 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs567493406 | chr12:38053606-38053607 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs145875232 | chr12:38053624-38053625 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs149540434 | chr12:38053628-38053629 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| Wilms tumour | 21544195 | 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 |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Autism | 20858243 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Osteosarcoma | 21215367 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Cancer | 21272361 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:38047800-38054400 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 2 | chr12:38048000-38054200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 3 | chr12:38051200-38054000 | Weak transcription | Primary T cells effector/memory enriched fromperipheralblood | blood |
| 4 | chr12:38051600-38053600 | Weak transcription | Liver | Liver |
| 5 | chr12:38053600-38054200 | ZNF genes & repeats | Liver | Liver |
| 6 | chr12:38053800-38054400 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 7 | chr12:38053800-38054400 | ZNF genes & repeats | Brain Hippocampus Middle | brain |
| 8 | chr12:38054000-38054200 | ZNF genes & repeats | Left Ventricle | heart |
| 9 | chr12:38054000-38054400 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 10 | chr12:38054000-38054400 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 11 | chr12:38054000-38054600 | ZNF genes & repeats | Primary T cells effector/memory enriched fromperipheralblood | blood |
| 12 | chr12:38054200-38054400 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 13 | chr12:38060200-38063400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 14 | chr12:38061000-38075600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 15 | chr12:38063400-38068400 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 16 | chr12:38063600-38067800 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 17 | chr12:38063800-38076600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 18 | chr12:38065800-38076400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 19 | chr12:38066800-38067600 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 20 | chr12:38066800-38067600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 21 | chr12:38066800-38067600 | ZNF genes & repeats | Liver | Liver |
| 22 | chr12:38066800-38067600 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
| 23 | chr12:38067000-38067400 | ZNF genes & repeats | Fetal Brain Male | brain |
| 24 | chr12:38067000-38067600 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 1 | blood |
| 25 | chr12:38067200-38067600 | Enhancers | Aorta | Aorta |
| 26 | chr12:38067600-38070000 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 27 | chr12:38069800-38072200 | Weak transcription | K562 | blood |
| 28 | chr12:38070000-38070400 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 29 | chr12:38070000-38072600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 30 | chr12:38070400-38070800 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 31 | chr12:38071400-38075800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 32 | chr12:38074400-38074800 | Active TSS | Fetal Heart | heart |
| 33 | chr12:38075400-38075800 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
| 34 | chr12:38081400-38088800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 35 | chr12:38081600-38097000 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 36 | chr12:38082600-38099400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 37 | chr12:38084000-38084800 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
| 38 | chr12:38084800-38087400 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 39 | chr12:38086200-38086400 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 40 | chr12:38087000-38099000 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 41 | chr12:38087400-38087600 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
| 42 | chr12:38087400-38087600 | ZNF genes & repeats | HUVEC | blood vessel |
| 43 | chr12:38088600-38088800 | ZNF genes & repeats | HUVEC | blood vessel |
| 44 | chr12:38090400-38091000 | Active TSS | Aorta | Aorta |
| 45 | chr12:38090800-38093200 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 46 | chr12:38091000-38096800 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 47 | chr12:38094000-38094200 | ZNF genes & repeats | HepG2 | liver |
| 48 | chr12:38095600-38099600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 49 | chr12:38096000-38097000 | Active TSS | Aorta | Aorta |
| 50 | chr12:38096200-38096800 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
