Variant report
| Variant | nsv576738 |
|---|---|
| Chromosome Location | chr18:40054104-40055787 |
| 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:36 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs531137146 | chr18:40054444-40054445 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs552466296 | chr18:40054527-40054528 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs570024189 | chr18:40054529-40054530 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs564785160 | chr18:40054530-40054531 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs190106471 | chr18:40054615-40054616 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs542773931 | chr18:40054665-40054666 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs181779300 | chr18:40054671-40054672 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs186432896 | chr18:40054709-40054710 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs139928511 | chr18:40054712-40054713 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs569204509 | chr18:40054743-40054744 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs537270261 | chr18:40054762-40054763 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs558317857 | chr18:40054816-40054817 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs577280217 | chr18:40054817-40054818 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs546347003 | chr18:40054859-40054860 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs576757505 | chr18:40054895-40054896 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs73951598 | chr18:40054925-40054926 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs552591453 | chr18:40054939-40054940 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs556483889 | chr18:40054959-40054960 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs541415461 | chr18:40054977-40054978 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs147958736 | chr18:40055040-40055041 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs575215683 | chr18:40055066-40055067 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs346232 | chr18:40055079-40055080 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs145368208 | chr18:40055136-40055137 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs78513932 | chr18:40055192-40055193 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs147658390 | chr18:40055264-40055265 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs149133964 | chr18:40055273-40055274 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs542106722 | chr18:40055333-40055334 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs529289593 | chr18:40055383-40055384 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs112746313 | chr18:40055434-40055435 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs569371450 | chr18:40055435-40055436 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs533248625 | chr18:40055528-40055529 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs552002384 | chr18:40055541-40055542 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs114385035 | chr18:40055603-40055604 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs562090135 | chr18:40055726-40055727 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs189323389 | chr18:40055770-40055771 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs10468964 | chr18:40055787-40055788 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:67)
| 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 |
| Pancreatic cancer | 21811587 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
| Breast cancer | 17133270 | CNVD |
| prenatal diagnosis | 22389664 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:40054400-40054800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr18:40054400-40055400 | Enhancers | Fetal Kidney | kidney |
| 3 | chr18:40055200-40055600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 4 | chr18:40055200-40055600 | Enhancers | Brain Hippocampus Middle | brain |
| 5 | chr18:40055400-40056000 | Enhancers | Fetal Heart | heart |
| 6 | chr18:40055400-40056800 | Weak transcription | Fetal Kidney | kidney |
