Variant report
| Variant | esv7191 |
|---|---|
| Chromosome Location | chr18:24791488-24791995 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs565102649 | chr18:24791495-24791496 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs532676084 | chr18:24791520-24791521 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs550777212 | chr18:24791540-24791541 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs569479429 | chr18:24791541-24791542 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs373262093 | chr18:24791588-24791589 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs536436719 | chr18:24791603-24791604 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs548331724 | chr18:24791646-24791647 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs372707571 | chr18:24791685-24791686 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs547872534 | chr18:24791716-24791717 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs566823788 | chr18:24791753-24791754 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs188925164 | chr18:24791755-24791756 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs534932797 | chr18:24791756-24791757 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs552880248 | chr18:24791822-24791823 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs552948873 | chr18:24791829-24791830 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs377335627 | chr18:24791870-24791871 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs577549926 | chr18:24791964-24791965 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs116345675 | chr18:24791980-24791981 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs150413544 | chr18:24791991-24791992 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:24788000-24793000 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 2 | chr18:24791400-24793000 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 3 | chr18:24791800-24793200 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
