Variant report
| Variant | esv3335659 |
|---|---|
| Chromosome Location | chr18:14867038-14867339 |
| 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:29 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs528750557 | chr18:14867041-14867042 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs113661176 | chr18:14867050-14867051 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs67020387 | chr18:14867061-14867062 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs567253364 | chr18:14867064-14867065 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs190385759 | chr18:14867068-14867069 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs150285441 | chr18:14867072-14867073 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs75413788 | chr18:14867084-14867085 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs376265432 | chr18:14867092-14867093 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs201826946 | chr18:14867096-14867097 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs73429639 | chr18:14867097-14867098 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs199922309 | chr18:14867118-14867119 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs113841221 | chr18:14867119-14867120 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs79197506 | chr18:14867120-14867121 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs377477439 | chr18:14867134-14867135 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs192801287 | chr18:14867139-14867140 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs572274761 | chr18:14867141-14867142 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs144708941 | chr18:14867144-14867145 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs73959419 | chr18:14867158-14867159 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs374998392 | chr18:14867159-14867160 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs368085635 | chr18:14867186-14867187 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs554578562 | chr18:14867221-14867222 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs184218477 | chr18:14867222-14867223 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs373996829 | chr18:14867245-14867246 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs376727108 | chr18:14867248-14867249 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs73959420 | chr18:14867291-14867292 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs1713897 | chr18:14867309-14867310 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 27 | rs12961244 | chr18:14867326-14867327 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs563637329 | chr18:14867337-14867338 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs188163943 | chr18:14867338-14867339 | ZNF genes & repeats | n/a | n/a | 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:14866400-14867400 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
