Variant report
| Variant | esv3487159 |
|---|---|
| Chromosome Location | chr15:46067225-46069913 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-SQRDL-1 | chr15:46068781-46068898 | ENSG00000259200.1 |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs75331385 | chr15:46068794-46068795 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 2 | rs138058773 | chr15:46068805-46068806 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs539057711 | chr15:46068820-46068821 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs939424 | chr15:46068833-46068834 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs536990438 | chr15:46068855-46068856 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 6 | rs556973889 | chr15:46068857-46068858 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 7 | rs939423 | chr15:46068941-46068942 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs143187840 | chr15:46068952-46068953 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs372912041 | chr15:46068981-46068982 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs572802856 | chr15:46069010-46069011 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs189579318 | chr15:46069050-46069051 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs377074693 | chr15:46069052-46069053 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs564911666 | chr15:46069057-46069058 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs143781756 | chr15:46069091-46069092 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs547177101 | chr15:46069111-46069112 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs568578831 | chr15:46069156-46069157 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs148157469 | chr15:46069157-46069158 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs142011102 | chr15:46069197-46069198 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs529508361 | chr15:46069238-46069239 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs529582750 | chr15:46069242-46069243 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs549285871 | chr15:46069265-46069266 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs544377788 | chr15:46069301-46069302 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs181836572 | chr15:46069308-46069309 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs528526243 | chr15:46069347-46069348 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs184602816 | chr15:46069361-46069362 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:64)
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Schizophrenia | 19415332 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| cataract | 16735990 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| spastic paraplegia with thinning of corpus callosum | 19105190 | CNVD |
| Schizophrenia | 21324950 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Disease | 21824424 | CNVD |
| Melanoma | 18172304 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Cancer | 21129771 | CNVD |
| Papillary thyroid carcinoma | 22161024 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Breast cancer | 22032731 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Abnormal phenotypes | 18644119 | CNVD |
| Cancer | 16751803 | CNVD |
| Melanoma | 17363583 | CNVD |
| Acute myeloid leukemia | 19651601 | CNVD |
| Marfan syndrome | 17492313 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:46068800-46069400 | Enhancers | HepG2 | liver |
