Variant report
| Variant | nsv898890 |
|---|---|
| Chromosome Location | chr12:21421343-21441918 |
| 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 |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs12317843 | chr12:21421343-21421344 | Strong transcription Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs141354552 | chr12:21421354-21421355 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs564447706 | chr12:21421364-21421365 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs143865125 | chr12:21421387-21421388 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs550436580 | chr12:21421390-21421391 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs143879363 | chr12:21421412-21421413 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs536157940 | chr12:21421433-21421434 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs148620600 | chr12:21421444-21421445 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs73250847 | chr12:21421458-21421459 | Strong transcription Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs565687014 | chr12:21421524-21421525 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs534393245 | chr12:21421525-21421526 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs557813044 | chr12:21421585-21421586 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs571289818 | chr12:21421620-21421621 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs115656549 | chr12:21421655-21421656 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs556786788 | chr12:21421702-21421703 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs573554860 | chr12:21421730-21421731 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs146227079 | chr12:21421764-21421765 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs4149006 | chr12:21421770-21421771 | Strong transcription Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 19 | rs112403792 | chr12:21421780-21421781 | Strong transcription Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs541099147 | chr12:21421857-21421858 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs183538288 | chr12:21421864-21421865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs371526459 | chr12:21421898-21421899 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs564593129 | chr12:21421991-21421992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs146016569 | chr12:21422002-21422003 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs542016285 | chr12:21422008-21422009 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs62925760 | chr12:21422012-21422013 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs139983960 | chr12:21422016-21422017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs140638980 | chr12:21422039-21422040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs563880381 | chr12:21422061-21422062 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs41275202 | chr12:21422065-21422066 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs115732289 | chr12:21422140-21422141 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs149146269 | chr12:21422169-21422170 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs369845166 | chr12:21422177-21422178 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs566271897 | chr12:21422206-21422207 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs528074120 | chr12:21422207-21422208 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs11045919 | chr12:21422253-21422254 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 37 | rs571318999 | chr12:21422272-21422273 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs74066041 | chr12:21422319-21422320 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 39 | rs556698938 | chr12:21422340-21422341 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs141698628 | chr12:21422353-21422354 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs4140389 | chr12:21422365-21422366 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 42 | rs553214457 | chr12:21422372-21422373 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs187581114 | chr12:21422375-21422376 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs138517568 | chr12:21422414-21422415 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs375722574 | chr12:21422427-21422428 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs397897522 | chr12:21422429-21422430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs11568560 | chr12:21422430-21422431 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs397897521 | chr12:21422431-21422432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs11568558 | chr12:21422432-21422433 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs367887564 | chr12:21422441-21422442 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:92)
| Disease | PMID | Source |
|---|---|---|
| Malignant germ cell tumour | 17285132 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Melanoma | 18172304 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | 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 |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | 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 |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Ependymoma | 18628472 | CNVD |
| Leukemia | 18628472 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Autism | 22102821 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Melanoma | 17363583 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Lung cancer | 21911935 | CNVD |
| Breast cancer | 22048815 | CNVD |
| Malignant peripheral nerve sheath tumor | 19844265 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Heart disease | 21282601 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Lung cancer | 17925434 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Gastric cancer | 24379144 | CNVD |
| Gastric cancer | 19545448 | CNVD |
| Lung cancer | 20031968 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung adenocarcinoma | 19826477 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Lung cancer | 19826477 | CNVD |
| Non-small cell lung cancer | 19451690 | CNVD |
| Non-small cell lung cancer | 17504988 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| Lung cancer | 19671679 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:21411000-21460400 | Weak transcription | Brain Cingulate Gyrus | brain |
| 2 | chr12:21416200-21449600 | Weak transcription | Brain Hippocampus Middle | brain |
| 3 | chr12:21416200-21473600 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 4 | chr12:21417000-21429800 | Weak transcription | Brain Substantia Nigra | brain |
| 5 | chr12:21417200-21425800 | Weak transcription | Brain Anterior Caudate | brain |
| 6 | chr12:21420000-21421800 | Strong transcription | Liver | Liver |
| 7 | chr12:21421800-21425800 | Weak transcription | Liver | Liver |
| 8 | chr12:21422600-21447200 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
| 9 | chr12:21423000-21423400 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 10 | chr12:21425800-21426600 | Strong transcription | Liver | Liver |
| 11 | chr12:21425800-21426600 | Strong transcription | Brain Anterior Caudate | brain |
| 12 | chr12:21426000-21426800 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 13 | chr12:21426600-21429000 | Weak transcription | Liver | Liver |
| 14 | chr12:21426600-21460400 | Weak transcription | Brain Anterior Caudate | brain |
| 15 | chr12:21429000-21430000 | Strong transcription | Liver | Liver |
| 16 | chr12:21429600-21429800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 17 | chr12:21429800-21430200 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 18 | chr12:21429800-21430200 | Genic enhancers | Brain Substantia Nigra | brain |
| 19 | chr12:21430000-21431600 | ZNF genes & repeats | Liver | Liver |
| 20 | chr12:21430200-21431200 | Strong transcription | Brain Substantia Nigra | brain |
| 21 | chr12:21431200-21441000 | Weak transcription | Brain Substantia Nigra | brain |
| 22 | chr12:21440600-21448200 | Weak transcription | Brain Angular Gyrus | brain |
| 23 | chr12:21441000-21441600 | Strong transcription | Brain Substantia Nigra | brain |
| 24 | chr12:21441600-21446800 | Weak transcription | Brain Substantia Nigra | brain |
