Variant report
| Variant | esv2502525 |
|---|---|
| Chromosome Location | chr18:8417731-8417732 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000188825 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs5823010 | chr18:8417731-8417732 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs200639658 | chr18:8417732-8417733 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:52)
| Disease | PMID | Source |
|---|---|---|
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Melanoma | 18172304 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Seminomas | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Kartagener syndrome | 16639409 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cancer | 21183584 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Colorectal cancer | 19150955 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Cancer | 21637783 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Trisomy 18 syndrome | 17576883 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Autism | 20808228 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Developmental delay | 21147756 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| abnormal development | 18461090 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Heart disease | 21282601 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Acute myeloid leukemia | 17377590 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:8412600-8423000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr18:8415600-8417800 | Enhancers | Placenta | Placenta |
| 3 | chr18:8416400-8422400 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 4 | chr18:8417000-8420200 | Weak transcription | HepG2 | liver |
| 5 | chr18:8417000-8423000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 6 | chr18:8417400-8423000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
