Variant report
| Variant | esv3330968 |
|---|---|
| Chromosome Location | chr12:74311585-74316283 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:2)
- 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 | chr12:74294795..74296655-chr12:74314771..74316525,2 | K562 | blood: |
(count:2 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-ATXN7L3B-2 | chr12:74312978-74313117 | ENSG00000257587 |
| 2 | lnc-ATXN7L3B-2 | chr12:74312978-74313300 | XLOC_009804 |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:22 , 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 | rs551616147 | chr12:74313013-74313014 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 2 | rs553684308 | chr12:74313063-74313064 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs12300867 | chr12:74313125-74313126 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs545875725 | chr12:74313126-74313127 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs372306408 | chr12:74313143-74313144 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 6 | rs59324603 | chr12:74313150-74313151 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs143961902 | chr12:74313155-74313156 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 8 | rs528820937 | chr12:74314807-74314808 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs552032519 | chr12:74314831-74314832 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs571818027 | chr12:74314832-74314833 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs143949918 | chr12:74314842-74314843 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs146389188 | chr12:74314854-74314855 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs139531602 | chr12:74314862-74314863 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs535539899 | chr12:74314866-74314867 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs555640679 | chr12:74314868-74314869 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs368833248 | chr12:74314917-74314918 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs540995059 | chr12:74314991-74314992 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs567934098 | chr12:74315042-74315043 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs369699452 | chr12:74315056-74315057 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs149975841 | chr12:74315121-74315122 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs377450339 | chr12:74315122-74315123 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs563340131 | chr12:74315145-74315146 | 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 |
| Ovarian cancer | 21720365 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:74314800-74315200 | Enhancers | Pancreatic Islets | Pancreatic Islet |
