Variant report
| Variant | esv3324497 |
|---|---|
| Chromosome Location | chr11:59837477-59837729 |
| 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:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-MS4A2-1 | chr11:59837677-59838454 | NONHSAT021556 |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs113079530 | chr11:59837480-59837481 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs150296094 | chr11:59837481-59837482 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs10897003 | chr11:59837577-59837578 | Weak transcription Strong transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 4 | rs375830368 | chr11:59837645-59837646 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs137885510 | chr11:59837661-59837662 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs569831424 | chr11:59837685-59837686 | Weak transcription Strong transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 7 | rs549155792 | chr11:59837701-59837702 | Weak transcription Strong transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 8 | rs144234019 | chr11:59837721-59837722 | Weak transcription Strong transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
| 9 | rs3038645 | chr11:59837723-59837724 | Weak transcription Strong transcription Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Autism | 22495311 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 21637783 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Chronic lymphocytic leukemia | 21795749 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Neuroblastoma | 18923524 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Pituitary adenoma | 18645599 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Smith-Lemli-Opitz syndrome | 21572526 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Cancer | 16751803 | CNVD |
| Seminomas | 18059402 | CNVD |
| Autism | 22495309 | CNVD |
| Autism | 20808228 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Chordoma | 21602918 | CNVD |
| Melanoma | 18172304 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:59832400-59837800 | Weak transcription | Primary monocytes fromperipheralblood | blood |
| 2 | chr11:59832600-59844800 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
| 3 | chr11:59836200-59839600 | Strong transcription | Primary neutrophils fromperipheralblood | blood |
| 4 | chr11:59837200-59838000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
