Variant report
| Variant | esv15393 |
|---|---|
| Chromosome Location | chr18:45095294-45096085 |
| 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:32 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs372716155 | chr18:45095315-45095316 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs376958948 | chr18:45095331-45095332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs4513165 | chr18:45095412-45095413 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs182765722 | chr18:45095427-45095428 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs528595862 | chr18:45095507-45095508 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs541965492 | chr18:45095515-45095516 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs186668551 | chr18:45095520-45095521 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs562112990 | chr18:45095543-45095544 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs555397011 | chr18:45095565-45095566 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs146931668 | chr18:45095567-45095568 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs571191766 | chr18:45095574-45095575 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs572414154 | chr18:45095583-45095584 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs143314671 | chr18:45095584-45095585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs150205283 | chr18:45095593-45095594 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs541033763 | chr18:45095628-45095629 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs189559399 | chr18:45095696-45095697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs564824389 | chr18:45095714-45095715 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs547234294 | chr18:45095769-45095770 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs565595339 | chr18:45095807-45095808 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs534716379 | chr18:45095808-45095809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs554412608 | chr18:45095823-45095824 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs9944990 | chr18:45095830-45095831 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs536680773 | chr18:45095849-45095850 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs544409983 | chr18:45095867-45095868 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs544114868 | chr18:45095903-45095904 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs137873691 | chr18:45095913-45095914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs563915114 | chr18:45095934-45095935 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs576749120 | chr18:45095939-45095940 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs141873912 | chr18:45096016-45096017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs559125879 | chr18:45096036-45096037 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs573002065 | chr18:45096043-45096044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs386508355 | chr18:45096070-45096071 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:90)
| 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 |
| 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 | 21297112 | 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 |
| Seminomas | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Breast cancer | 17133270 | CNVD |
| prenatal diagnosis | 22389664 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Neuroblastoma | 21508638 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Chronic lymphocytic leukemia | 21049055 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Pilomyxoid astrocytoma | 17436254 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Cancer | 21183584 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Basal cell lymphoma | 19029149 | CNVD |
| Diffuse large b-cell lymphoma | 19029149 | CNVD |
| Cancer | 17160897 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Idiopathic thrombocytopenic purpura | 19566914 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Lung cancer | 21569311 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 20164919 | CNVD |
| Intellectual disability | 21811512 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:45090200-45103000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
