Variant report
| Variant | esv3406486 |
|---|---|
| Chromosome Location | chr18:14501452-14510850 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:7)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:7 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr18:14504143-14504240 | Medullo | brain: | n/a | n/a |
| 2 | FOS | chr18:14510728-14510981 | MCF10A-Er-Src | breast: | n/a | n/a |
| 3 | FOS | chr18:14510750-14510948 | MCF10A-Er-Src | breast: | n/a | n/a |
| 4 | FOS | chr18:14510726-14510948 | MCF10A-Er-Src | breast: | n/a | n/a |
| 5 | FOS | chr18:14510738-14510971 | MCF10A-Er-Src | breast: | n/a | n/a |
| 6 | PBX3 | chr18:14510196-14510333 | GM12878 | blood: | n/a | n/a |
| 7 | POLR2A | chr18:14510772-14510983 | U87 | brain: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| CXADRP3 | TF binding region |
Variant overlapped rSNPs/rCNVs (count:13 , 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 | rs559796234 | chr18:14504147-14504148 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs529078084 | chr18:14504166-14504167 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs548736093 | chr18:14504187-14504188 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs568821198 | chr18:14504188-14504189 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs538097621 | chr18:14504203-14504204 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs182045859 | chr18:14504225-14504226 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs145333774 | chr18:14510605-14510606 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs147661372 | chr18:14510638-14510639 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs554362757 | chr18:14510706-14510707 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs574274349 | chr18:14510740-14510741 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs71362456 | chr18:14510771-14510772 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs543338431 | chr18:14510787-14510788 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs547502880 | chr18:14510820-14510821 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Melanoma | 18172304 | 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 |
| lymphocytic leukemia | 21291569 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Heart disease | 21282601 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Acute myeloid leukemia | 17377590 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 16620391 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Glioma | 17123091 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:14510600-14511400 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
