Variant report
| Variant | nsv973077 |
|---|---|
| Chromosome Location | chr12:58376473-58378422 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:191)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
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| No data |
| No data |
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| Variant related genes | Relation type |
|---|---|
| RN7SKP65 | TF binding region |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs571941276 | chr12:58376500-58376501 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs151231217 | chr12:58376516-58376517 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs561050883 | chr12:58376565-58376566 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs532204626 | chr12:58376577-58376578 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs373843129 | chr12:58376578-58376579 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs78165032 | chr12:58376586-58376587 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs183627042 | chr12:58376587-58376588 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs549522766 | chr12:58376600-58376601 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs546029521 | chr12:58376646-58376647 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs559791243 | chr12:58376682-58376683 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs528716698 | chr12:58376712-58376713 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs547545067 | chr12:58376724-58376725 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs567054729 | chr12:58376778-58376779 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs528890161 | chr12:58376781-58376782 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs76205642 | chr12:58376785-58376786 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs549605616 | chr12:58376796-58376797 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs34299776 | chr12:58376833-58376834 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs115080467 | chr12:58376835-58376836 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs139188373 | chr12:58376850-58376851 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs568632192 | chr12:58376892-58376893 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs73335576 | chr12:58376940-58376941 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs577641126 | chr12:58376948-58376949 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs188550494 | chr12:58376949-58376950 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs531239101 | chr12:58376950-58376951 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs571879266 | chr12:58376952-58376953 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs11172414 | chr12:58376973-58376974 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs376838685 | chr12:58377001-58377002 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs551246802 | chr12:58377018-58377019 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 29 | rs371074128 | chr12:58377022-58377023 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 30 | rs55689927 | chr12:58377032-58377033 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 31 | rs61937377 | chr12:58377035-58377036 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs116186451 | chr12:58377037-58377038 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs61937378 | chr12:58377047-58377048 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 34 | rs199896095 | chr12:58377055-58377056 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 35 | rs145821462 | chr12:58377406-58377407 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs74098013 | chr12:58377429-58377430 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 37 | rs538668362 | chr12:58377459-58377460 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs184941857 | chr12:58377475-58377476 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs115080794 | chr12:58377533-58377534 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs536797543 | chr12:58377546-58377547 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs186653738 | chr12:58377566-58377567 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs576215162 | chr12:58377573-58377574 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs543726205 | chr12:58377658-58377659 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs558908303 | chr12:58377666-58377667 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs116930154 | chr12:58377676-58377677 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs565745885 | chr12:58377744-58377745 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs191347441 | chr12:58377747-58377748 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs1848130 | chr12:58377772-58377773 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 49 | rs529749127 | chr12:58377775-58377776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs138244174 | chr12:58377791-58377792 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:87)
| 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 |
| Bladder cancer | 21909424 | 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 |
| Autism | 20531469 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21138945 | 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 |
| Breast cancer | 21364760 | CNVD |
| Glioblastoma | 17090523 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:58377400-58377800 | Enhancers | Fetal Stomach | stomach |
| 2 | chr12:58377400-58378000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 3 | chr12:58377400-58378000 | Enhancers | Fetal Muscle Leg | muscle |
| 4 | chr12:58377400-58378000 | Enhancers | Stomach Smooth Muscle | stomach |
| 5 | chr12:58377400-58378600 | Enhancers | Adipose Nuclei | Adipose |
| 6 | chr12:58377400-58380200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 7 | chr12:58377600-58377800 | Enhancers | Right Atrium | heart |
| 8 | chr12:58377600-58378000 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 9 | chr12:58377600-58378000 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
| 10 | chr12:58377600-58378000 | Enhancers | HUVEC | blood vessel |
| 11 | chr12:58377600-58378800 | Enhancers | Left Ventricle | heart |
| 12 | chr12:58377800-58379200 | Weak transcription | Right Atrium | heart |
| 13 | chr12:58378000-58378400 | Weak transcription | Fetal Muscle Leg | muscle |
| 14 | chr12:58378000-58383200 | Weak transcription | Stomach Smooth Muscle | stomach |
| 15 | chr12:58378000-58393400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 16 | chr12:58378400-58378800 | Enhancers | Esophagus | oesophagus |
| 17 | chr12:58378400-58378800 | Bivalent Enhancer | Fetal Muscle Trunk | muscle |
| 18 | chr12:58378400-58378800 | Enhancers | Fetal Muscle Leg | muscle |
