Variant report
| Variant | nsv438279 |
|---|---|
| Chromosome Location | chr18:30852119-30862517 |
| 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:29 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs200546259 | chr18:30855429-30855430 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs561810916 | chr18:30855462-30855463 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs527472956 | chr18:30855536-30855537 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs146225429 | chr18:30855649-30855650 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs547646268 | chr18:30855770-30855771 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs570737086 | chr18:30855797-30855798 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs79888422 | chr18:30857200-30857201 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs150564179 | chr18:30857302-30857303 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs541137305 | chr18:30857321-30857322 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs538284808 | chr18:30857329-30857330 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs564227361 | chr18:30857350-30857351 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs577760514 | chr18:30857408-30857409 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs543644679 | chr18:30857460-30857461 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs563421576 | chr18:30857534-30857535 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs76951703 | chr18:30857620-30857621 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs548940382 | chr18:30857649-30857650 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs371661459 | chr18:30857679-30857680 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs189075811 | chr18:30857686-30857687 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs139549646 | chr18:30857703-30857704 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs534353503 | chr18:30857775-30857776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs556571803 | chr18:30857791-30857792 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs117347546 | chr18:30857804-30857805 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs111902603 | chr18:30857813-30857814 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs571752105 | chr18:30857837-30857838 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs537231565 | chr18:30857860-30857861 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs149751882 | chr18:30857865-30857866 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs144590813 | chr18:30857866-30857867 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs140751386 | chr18:30857870-30857871 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs59342170 | chr18:30857896-30857897 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:70)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Colorectal cancer | 16272173 | 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 |
| 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 |
| Oral cancer | 21386901 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Renal cell carcinoma | 19150565 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Colorectal cancer | 19150955 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Prostate cancer | 22341455 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:30855400-30855800 | Active TSS | HSMM | muscle |
| 2 | chr18:30857200-30858000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 3 | chr18:30857400-30857800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 4 | chr18:30857400-30858000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 5 | chr18:30857400-30858000 | Enhancers | H9 Cell Line | embryonic stem cell |
| 6 | chr18:30857400-30858000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 7 | chr18:30857400-30858000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 8 | chr18:30857400-30858000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 9 | chr18:30857400-30858000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 10 | chr18:30857600-30858000 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 11 | chr18:30857600-30858000 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
