Variant report
| Variant | esv3407890 |
|---|---|
| Chromosome Location | chr18:40188918-40189058 |
| 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:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs7505703 | chr18:40188950-40188951 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs80192748 | chr18:40188953-40188954 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs572510667 | chr18:40188955-40188956 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs540515286 | chr18:40188956-40188957 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs645996 | chr18:40188957-40188958 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs575425856 | chr18:40188966-40188967 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs529071027 | chr18:40188978-40188979 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs11873725 | chr18:40188988-40188989 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs146920306 | chr18:40189001-40189002 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs72021174 | chr18:40189003-40189004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs562402522 | chr18:40189005-40189006 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs33998680 | chr18:40189010-40189011 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs201278790 | chr18:40189011-40189012 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs201081693 | chr18:40189023-40189024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs533049436 | chr18:40189038-40189039 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs556275337 | chr18:40189039-40189040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs566122602 | chr18:40189041-40189042 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs113353430 | chr18:40189042-40189043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs369497371 | chr18:40189052-40189053 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:65)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:40186600-40189000 | Enhancers | Pancreatic Islets | Pancreatic Islet |
| 2 | chr18:40187600-40193800 | Weak transcription | Fetal Muscle Leg | muscle |
| 3 | chr18:40189000-40193800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
