Variant report
| Variant | nsv1043772 |
|---|---|
| Chromosome Location | chr12:74202096-74220827 |
| 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 | chr12:74217471..74219715-chr12:74230543..74232076,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs189040812 | chr12:74203800-74203801 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs562572084 | chr12:74203840-74203841 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs531293309 | chr12:74203862-74203863 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs139352331 | chr12:74203983-74203984 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs564613925 | chr12:74203986-74203987 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs570489789 | chr12:74208843-74208844 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs375673651 | chr12:74208869-74208870 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs558788147 | chr12:74208956-74208957 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs147592429 | chr12:74208968-74208969 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs77107381 | chr12:74208974-74208975 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs538276894 | chr12:74208983-74208984 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs554979236 | chr12:74208991-74208992 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs76443784 | chr12:74209086-74209087 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs147088861 | chr12:74209101-74209102 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs556191552 | chr12:74209136-74209137 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs576065396 | chr12:74209158-74209159 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs181779892 | chr12:74209182-74209183 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs186203176 | chr12:74209189-74209190 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs546203923 | chr12:74209206-74209207 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs189439805 | chr12:74209278-74209279 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs368973347 | chr12:74209339-74209340 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs555189964 | chr12:74209340-74209341 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs531870726 | chr12:74209346-74209347 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs550190752 | chr12:74209366-74209367 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs66657264 | chr12:74209382-74209383 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs181874634 | chr12:74209390-74209391 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs540958869 | chr12:74209429-74209430 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs546635041 | chr12:74209465-74209466 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs147708912 | chr12:74209487-74209488 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs186943829 | chr12:74209501-74209502 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs140067159 | chr12:74209502-74209503 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs75447744 | chr12:74209507-74209508 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs552070936 | chr12:74209605-74209606 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs577138854 | chr12:74209619-74209620 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs141037229 | chr12:74209620-74209621 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs538133132 | chr12:74209642-74209643 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs191263509 | chr12:74209659-74209660 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs61934790 | chr12:74209666-74209667 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs74854265 | chr12:74209669-74209670 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs200687578 | chr12:74209673-74209674 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs71075936 | chr12:74209694-74209695 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs574842768 | chr12:74209721-74209722 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs534036113 | chr12:74209819-74209820 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs545890704 | chr12:74209823-74209824 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs554208841 | chr12:74209859-74209860 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs577385914 | chr12:74209880-74209881 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs546414204 | chr12:74209929-74209930 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs201004172 | chr12:74209938-74209939 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs183094586 | chr12:74209944-74209945 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs576376435 | chr12:74209945-74209946 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:68)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Chronic lymphocytic leukemia | 21546498 | 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 | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | 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 |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Cancer | 16751803 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Osteosarcoma | 21215367 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:74203800-74204000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr12:74208800-74209200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 3 | chr12:74209000-74209400 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 4 | chr12:74209000-74209400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 5 | chr12:74209000-74209400 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 6 | chr12:74209000-74209600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 7 | chr12:74209400-74209600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 8 | chr12:74209600-74210000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
