Variant report
| Variant | nsv522193 |
|---|---|
| Chromosome Location | chr12:59752483-59757545 |
| 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 | rs10877264 | chr12:59752483-59752484 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs561536825 | chr12:59752485-59752486 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs191233864 | chr12:59752580-59752581 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs544255103 | chr12:59752597-59752598 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs562359012 | chr12:59752599-59752600 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs145769659 | chr12:59752635-59752636 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs551371740 | chr12:59752688-59752689 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs148192469 | chr12:59752720-59752721 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs117301674 | chr12:59752754-59752755 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs183041680 | chr12:59752799-59752800 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs568596742 | chr12:59752810-59752811 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs535588931 | chr12:59752838-59752839 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs111592003 | chr12:59752852-59752853 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs543930879 | chr12:59752897-59752898 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs563524932 | chr12:59752953-59752954 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs534241858 | chr12:59753061-59753062 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs569181554 | chr12:59753111-59753112 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs148549711 | chr12:59753117-59753118 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs75747200 | chr12:59753241-59753242 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs187425679 | chr12:59753257-59753258 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs557716498 | chr12:59753269-59753270 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs532600862 | chr12:59753313-59753314 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs540089343 | chr12:59753350-59753351 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs554433729 | chr12:59753353-59753354 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs567805546 | chr12:59753378-59753379 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs555280806 | chr12:59753400-59753401 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs1996200 | chr12:59753408-59753409 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs113841289 | chr12:59753441-59753442 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs562628870 | chr12:59753510-59753511 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs138286259 | chr12:59753548-59753549 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs12823878 | chr12:59753606-59753607 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs12823899 | chr12:59753643-59753644 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs12823906 | chr12:59753645-59753646 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs12823920 | chr12:59753666-59753667 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs142975562 | chr12:59753683-59753684 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs12828785 | chr12:59753704-59753705 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs12828786 | chr12:59753710-59753711 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs560185036 | chr12:59753725-59753726 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs12828821 | chr12:59753762-59753763 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs5798488 | chr12:59753799-59753800 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs397816659 | chr12:59753800-59753801 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs528800311 | chr12:59753810-59753811 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs547277354 | chr12:59753812-59753813 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs562161285 | chr12:59753816-59753817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs529464794 | chr12:59753817-59753818 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs146111384 | chr12:59753842-59753843 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs138869691 | chr12:59753872-59753873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs539537203 | chr12:59753892-59753893 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs75024444 | chr12:59753905-59753906 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs115842032 | chr12:59753987-59753988 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:83)
| 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 |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | 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 |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| liposarcomas | 17372913 | CNVD |
| Non-small cell lung cancer | 24170126 | CNVD |
| Cancer | 16751803 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 21785460 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Hodgkin''s lymphoma | 18179710 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Leukemia | 18628472 | CNVD |
| Glioblastoma multiforme | 22291905 | CNVD |
| Glioblastoma multiforme | 19435819 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Glaucoma | 21310917 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Mental retardation | 19951919 | CNVD |
| Glaucoma | 21447600 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Developmental delay | 21267005 | CNVD |
| 12q14 microdeletion syndrome | 21267005 | CNVD |
| Developmental delay | 19277063 | CNVD |
| Dwarfism | 19277063 | CNVD |
| Fibroblasts | 20926602 | CNVD |
| Follicular lymphoma | 18703704 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Glioblastoma multiforme | 20080666 | CNVD |
| Medulloblastoma | 19270706 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Glioblastoma | 17090523 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:59751400-59753400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 2 | chr12:59751800-59753200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 3 | chr12:59752000-59753000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 4 | chr12:59752000-59753000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 5 | chr12:59752000-59753000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 6 | chr12:59752000-59753200 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 7 | chr12:59752000-59754800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 8 | chr12:59752400-59752800 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 9 | chr12:59752400-59752800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 10 | chr12:59752800-59753400 | Enhancers | H1 Cell Line | embryonic stem cell |
| 11 | chr12:59752800-59753400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 12 | chr12:59753000-59753200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 13 | chr12:59753000-59753400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 14 | chr12:59753000-59753400 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
| 15 | chr12:59753000-59753800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 16 | chr12:59753200-59753400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 17 | chr12:59753400-59756400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 18 | chr12:59753400-59766600 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 19 | chr12:59753800-59756000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 20 | chr12:59756000-59757000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 21 | chr12:59756400-59756600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 22 | chr12:59757000-59757600 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
