Variant report
| Variant | esv3390939 |
|---|---|
| Chromosome Location | chr12:21393734-21418537 |
| 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 |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs111436442 | chr12:21393753-21393754 | Enhancers Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs558043020 | chr12:21393797-21393798 | Enhancers Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs570723285 | chr12:21393801-21393802 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs556314829 | chr12:21393815-21393816 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs386761053 | chr12:21393829-21393830 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs12367506 | chr12:21393830-21393831 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs144884205 | chr12:21393866-21393867 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs186893702 | chr12:21394001-21394002 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs369977227 | chr12:21394009-21394010 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs191282614 | chr12:21394147-21394148 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs201278262 | chr12:21394156-21394157 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs147960934 | chr12:21394175-21394176 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs182183235 | chr12:21394195-21394196 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs78059366 | chr12:21394217-21394218 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs372987621 | chr12:21394260-21394261 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs543381966 | chr12:21394299-21394300 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs139421511 | chr12:21394399-21394400 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs377349854 | chr12:21394415-21394416 | Enhancers Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs528987812 | chr12:21394422-21394423 | Enhancers Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs145002815 | chr12:21394443-21394444 | Enhancers Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs566211728 | chr12:21394533-21394534 | Enhancers Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs76191891 | chr12:21394538-21394539 | Enhancers Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs11045897 | chr12:21394544-21394545 | Enhancers Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs147570942 | chr12:21394548-21394549 | Enhancers Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs1080411 | chr12:21394558-21394559 | Enhancers Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs139459963 | chr12:21394561-21394562 | Enhancers Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs536983619 | chr12:21394583-21394584 | Enhancers Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs74064264 | chr12:21394679-21394680 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 29 | rs569763105 | chr12:21394751-21394752 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs535512455 | chr12:21394765-21394766 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs76062129 | chr12:21394854-21394855 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs541630860 | chr12:21394855-21394856 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs149056140 | chr12:21394870-21394871 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs578184512 | chr12:21394935-21394936 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs544168000 | chr12:21395003-21395004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs10841769 | chr12:21395019-21395020 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 37 | rs77088330 | chr12:21395056-21395057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs116428713 | chr12:21395102-21395103 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs544229259 | chr12:21395135-21395136 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs143082120 | chr12:21395191-21395192 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs11045898 | chr12:21395206-21395207 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs185311829 | chr12:21395235-21395236 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs56397921 | chr12:21395277-21395278 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 44 | rs553337881 | chr12:21395364-21395365 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs188727600 | chr12:21395372-21395373 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs192849323 | chr12:21395374-21395375 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs12816954 | chr12:21395411-21395412 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs571852824 | chr12:21395494-21395495 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs184899676 | chr12:21395498-21395499 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs535469871 | chr12:21395499-21395500 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:91)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:21385800-21397800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr12:21393000-21395000 | ZNF genes & repeats | Liver | Liver |
| 3 | chr12:21393200-21393800 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 4 | chr12:21393800-21394400 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 5 | chr12:21394400-21394600 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 6 | chr12:21394400-21394600 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 7 | chr12:21397800-21399000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 8 | chr12:21398000-21399200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 9 | chr12:21398200-21398600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 10 | chr12:21399000-21401400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 11 | chr12:21401400-21402400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 12 | chr12:21401800-21402000 | Enhancers | Brain Cingulate Gyrus | brain |
| 13 | chr12:21402200-21402600 | Enhancers | Fetal Heart | heart |
| 14 | chr12:21408400-21408600 | Enhancers | Liver | Liver |
| 15 | chr12:21408600-21411800 | Weak transcription | Liver | Liver |
| 16 | chr12:21411000-21460400 | Weak transcription | Brain Cingulate Gyrus | brain |
| 17 | chr12:21411800-21412600 | Strong transcription | Liver | Liver |
| 18 | chr12:21412200-21413000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 19 | chr12:21412600-21414800 | Weak transcription | Liver | Liver |
| 20 | chr12:21414800-21415800 | Strong transcription | Liver | Liver |
| 21 | chr12:21415800-21420000 | Weak transcription | Liver | Liver |
| 22 | chr12:21416200-21449600 | Weak transcription | Brain Hippocampus Middle | brain |
| 23 | chr12:21416200-21473600 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 24 | chr12:21417000-21429800 | Weak transcription | Brain Substantia Nigra | brain |
| 25 | chr12:21417200-21425800 | Weak transcription | Brain Anterior Caudate | brain |
| 26 | chr12:21418200-21421200 | Enhancers | Primary monocytes fromperipheralblood | blood |
