Variant report
| Variant | nsv516281 |
|---|---|
| Chromosome Location | chr18:11471820-11472102 |
| 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 |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs8084551 | chr18:11471820-11471821 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs555223711 | chr18:11471831-11471832 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs115706130 | chr18:11471848-11471849 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs117422301 | chr18:11471913-11471914 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs564923637 | chr18:11471953-11471954 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs72873659 | chr18:11471956-11471957 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs116210079 | chr18:11472005-11472006 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs559200213 | chr18:11472021-11472022 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs143508038 | chr18:11472050-11472051 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs548116557 | chr18:11472076-11472077 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs9958087 | chr18:11472102-11472103 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:56)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Seminomas | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Kartagener syndrome | 16639409 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cancer | 21183584 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Melanoma | 18172304 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Colorectal cancer | 19150955 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Cancer | 21637783 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Trisomy 18 syndrome | 17576883 | CNVD |
| Autism | 20808228 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| abnormal development | 18461090 | CNVD |
| Heart disease | 21282601 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Acute myeloid leukemia | 17377590 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 16620391 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Glioma | 17123091 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:11465800-11479600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 2 | chr18:11468400-11472000 | Weak transcription | Hela-S3 | cervix |
| 3 | chr18:11470800-11472400 | Enhancers | Dnd41 | blood |
| 4 | chr18:11471200-11472200 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 5 | chr18:11471600-11472400 | Weak transcription | Fetal Thymus | thymus |
| 6 | chr18:11472000-11472400 | Enhancers | Hela-S3 | cervix |
