Variant report
| Variant | esv3331460 |
|---|---|
| Chromosome Location | chr18:40266412-40266850 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs542772959 | chr18:40266415-40266416 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs608015 | chr18:40266436-40266437 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs554453176 | chr18:40266440-40266441 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs148348693 | chr18:40266448-40266449 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs9944914 | chr18:40266471-40266472 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs564680620 | chr18:40266504-40266505 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs531942872 | chr18:40266505-40266506 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs141601295 | chr18:40266513-40266514 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs559967364 | chr18:40266578-40266579 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs147525780 | chr18:40266597-40266598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs114255741 | chr18:40266650-40266651 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs12456479 | chr18:40266651-40266652 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs186748643 | chr18:40266662-40266663 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs12456444 | chr18:40266714-40266715 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs570967098 | chr18:40266715-40266716 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs28555599 | chr18:40266740-40266741 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs373492178 | chr18:40266783-40266784 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs553419856 | chr18:40266784-40266785 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs548454271 | chr18:40266799-40266800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs568479041 | chr18:40266813-40266814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs536135137 | chr18:40266822-40266823 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs139888755 | chr18:40266829-40266830 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs576149033 | chr18:40266839-40266840 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| 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 |
| 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 |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Colorectal cancer | 19150955 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Lung cancer | 18438408 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Seminomas | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
| Breast cancer | 17133270 | CNVD |
| prenatal diagnosis | 22389664 | CNVD |
| Breast cancer | 21509527 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:40255400-40268200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
