Variant report
| Variant | esv3355081 |
|---|---|
| Chromosome Location | chr18:12177615-12178183 |
| 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:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs569247950 | chr18:12177623-12177624 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs533453239 | chr18:12177648-12177649 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs113605193 | chr18:12177657-12177658 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs369482248 | chr18:12177670-12177671 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs181622603 | chr18:12177699-12177700 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs386801342 | chr18:12177703-12177704 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs566972025 | chr18:12177761-12177762 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs533849494 | chr18:12177812-12177813 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs67811810 | chr18:12177874-12177875 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs112461951 | chr18:12177898-12177899 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs376528521 | chr18:12177906-12177907 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs12232772 | chr18:12177913-12177914 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs138037445 | chr18:12178064-12178065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs555205023 | chr18:12178065-12178066 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs112667379 | chr18:12178074-12178075 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs567249220 | chr18:12178098-12178099 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs4583319 | chr18:12178099-12178100 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 18 | rs72479183 | chr18:12178121-12178122 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs369202470 | chr18:12178126-12178127 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs147397149 | chr18:12178182-12178183 | Weak transcription | 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 |
| Autism | 20808228 | 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 |
| small cell lung cancer | 20016488 | 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 |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 16620391 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Glioma | 17123091 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:12154200-12183800 | Weak transcription | Pancreas | Pancrea |
