Variant report
| Variant | nsv528945 |
|---|---|
| Chromosome Location | chr18:24750146-24750734 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr18:24744878..24747343-chr18:24750374..24752456,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs9954485 | chr18:24750146-24750147 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs74473553 | chr18:24750200-24750201 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs537011029 | chr18:24750342-24750343 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs181006948 | chr18:24750356-24750357 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs551331429 | chr18:24750364-24750365 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs141776407 | chr18:24750372-24750373 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs7245048 | chr18:24750435-24750436 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs9967454 | chr18:24750457-24750458 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs183937591 | chr18:24750575-24750576 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs577387574 | chr18:24750611-24750612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs544904431 | chr18:24750614-24750615 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs563555482 | chr18:24750633-24750634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs1155333 | chr18:24750734-24750735 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:64)
| Disease | PMID | Source |
|---|---|---|
| Colorectal cancer | 16272173 | CNVD |
| Colorectal cancer | 19150955 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Trisomy 18 syndrome | 17576883 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Lung cancer | 18438408 | CNVD |
| 18q deletion syndrome | 19533772 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Colorectal cancer | 21102417 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Pancreatic cancer | 21811562 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Mucosa-associated lymphoid tissue lymphomas | 21459788 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| colon cancer | 17210682 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Autism | 16446308 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Cancer | 16751803 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Acute myeloid leukemia | 19651600 | CNVD |
| Prostate cancer | 22341455 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:24744200-24755200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr18:24745400-24750200 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 3 | chr18:24745400-24754800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 4 | chr18:24745400-24756200 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
| 5 | chr18:24747600-24755200 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 6 | chr18:24749200-24751400 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 7 | chr18:24750000-24750400 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
| 8 | chr18:24750400-24754800 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 9 | chr18:24750600-24751400 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
