Variant report
| Variant | esv3380343 |
|---|---|
| Chromosome Location | chr18:40445763-40446048 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr18:40440814..40443148-chr18:40445751..40448526,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs76016136 | chr18:40445775-40445776 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs558636657 | chr18:40445787-40445788 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs570829932 | chr18:40445796-40445797 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs576818874 | chr18:40445808-40445809 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs142657635 | chr18:40445843-40445844 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs553632907 | chr18:40445859-40445860 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs572269344 | chr18:40445866-40445867 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs191287775 | chr18:40445867-40445868 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs561091053 | chr18:40445969-40445970 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs73471625 | chr18:40445988-40445989 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs145950643 | chr18:40446000-40446001 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs139452561 | chr18:40446013-40446014 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs78265169 | chr18:40446023-40446024 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs547451769 | chr18:40446047-40446048 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:68)
| 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 |
| Prostate cancer | 22341455 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:40445200-40446400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr18:40445400-40468400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
