Variant report
| Variant | nsv978613 |
|---|---|
| Chromosome Location | chr18:14716671-14727096 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:16)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:16 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CEBPB | chr18:14718749-14718858 | HepG2 | liver: | n/a | chr18:14718789-14718800 |
| 2 | CTCF | chr18:14721507-14721538 | Lung_OC | lung: | n/a | n/a |
| 3 | CTCF | chr18:14720587-14720705 | LNCaP | prostate: | n/a | n/a |
| 4 | CTCF | chr18:14718652-14718666 | Spleen_OC | spleen: | n/a | n/a |
| 5 | POLR2A | chr18:14723343-14723438 | Gliobla | brain: | n/a | n/a |
| 6 | REST | chr18:14721655-14721985 | U87 | brain: | n/a | n/a |
| 7 | REST | chr18:14721675-14721827 | GM12878 | blood: | n/a | n/a |
| 8 | REST | chr18:14721681-14721805 | GM12878 | blood: | n/a | n/a |
| 9 | REST | chr18:14721661-14721782 | PANC-1 | pancreas: | n/a | n/a |
| 10 | REST | chr18:14721641-14721896 | U87 | brain: | n/a | n/a |
| 11 | REST | chr18:14721657-14721983 | U87 | brain: | n/a | n/a |
| 12 | REST | chr18:14721534-14722020 | GM12878 | blood: | n/a | n/a |
| 13 | REST | chr18:14721629-14721863 | SK-N-SH | brain: | n/a | n/a |
| 14 | REST | chr18:14721639-14721831 | Hela-S3 | cervix: | n/a | n/a |
| 15 | REST | chr18:14721691-14721833 | HepG2 | liver: | n/a | n/a |
| 16 | REST | chr18:14721628-14721872 | Hela-S3 | cervix: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ANKRD30B | TF binding region |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs12964886 | chr18:14723384-14723385 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs560767048 | chr18:14723410-14723411 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs28663993 | chr18:14723416-14723417 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs543210402 | chr18:14723426-14723427 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:52)
| 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 |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 20164919 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
