Variant report
| Variant | esv1036258 |
|---|---|
| Chromosome Location | chr12:2017933-2018050 |
| 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 | chr12:1947445..1949197-chr12:2016726..2018832,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs71057805 | chr12:2017934-2017935 | Genic enhancers Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs566552720 | chr12:2017938-2017939 | Genic enhancers Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs7311867 | chr12:2017967-2017968 | Genic enhancers Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs57296286 | chr12:2017970-2017971 | Genic enhancers Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs75924382 | chr12:2017975-2017976 | Genic enhancers Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs9669364 | chr12:2017977-2017978 | Genic enhancers Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs7301239 | chr12:2018009-2018010 | Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs7312802 | chr12:2018016-2018017 | Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs61591365 | chr12:2018018-2018019 | Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs527354923 | chr12:2018045-2018046 | Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs111479797 | chr12:2018048-2018049 | Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:79)
| Disease | PMID | Source |
|---|---|---|
| Myelofibrosis | 22110671 | CNVD |
| Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
| Glaucoma | 21310917 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Malignant peripheral nerve sheath tumor | 19844265 | CNVD |
| Squamous cell cancer | 19607727 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| abnormal development | 18461090 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | 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 |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | 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 |
| Breast cancer | 21509527 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 20164919 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:2017400-2018000 | Weak transcription | Spleen | Spleen |
| 2 | chr12:2017600-2018200 | Genic enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr12:2017600-2018200 | Enhancers | HMEC | breast |
| 4 | chr12:2017600-2018400 | Bivalent Enhancer | Placenta | Placenta |
| 5 | chr12:2018000-2018400 | ZNF genes & repeats | Spleen | Spleen |
