Variant report
| Variant | esv1161141 |
|---|---|
| Chromosome Location | chr18:135608-135612 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr18:134984..136736-chr18:140752..143345,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
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 | rs535270840 | chr18:135608-135609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs367596761 | chr18:135609-135610 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:47)
| Disease | PMID | Source |
|---|---|---|
| Cancer | 20164920 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Heart disease | 21282601 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Cancer | 17160897 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Gastrointestinal cancer | 17018589 | CNVD |
| prenatal diagnosis | 20453657 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Melanoma | 18172304 | 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 |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Melanoma | 17363583 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:135600-136400 | Weak transcription | K562 | blood |
