Variant report
| Variant | esv3368366 |
|---|---|
| Chromosome Location | chr18:8875219-8875495 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs73382322 | chr18:8875235-8875236 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs577382416 | chr18:8875246-8875247 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs17408774 | chr18:8875273-8875274 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 4 | rs553050332 | chr18:8875288-8875289 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs75378831 | chr18:8875295-8875296 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs541899483 | chr18:8875321-8875322 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs566788401 | chr18:8875326-8875327 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs373128294 | chr18:8875328-8875329 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs8085294 | chr18:8875329-8875330 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs200486228 | chr18:8875332-8875333 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs8085296 | chr18:8875333-8875334 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs62086648 | chr18:8875337-8875338 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs374655074 | chr18:8875350-8875351 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs201534206 | chr18:8875371-8875372 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs9962686 | chr18:8875381-8875382 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs149743897 | chr18:8875389-8875390 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs5024249 | chr18:8875390-8875391 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs4324195 | chr18:8875395-8875396 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs531138009 | chr18:8875419-8875420 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs62086649 | chr18:8875431-8875432 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs564358346 | chr18:8875437-8875438 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs532040774 | chr18:8875462-8875463 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs149680371 | chr18:8875495-8875496 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:52)
| Disease | PMID | Source |
|---|---|---|
| Melanoma | 18172304 | CNVD |
| 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 |
| 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 |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Autism | 20808228 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Developmental delay | 21147756 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21858162 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| abnormal development | 18461090 | CNVD |
| Heart disease | 21282601 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Acute myeloid leukemia | 17377590 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:8869000-8878400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr18:8873000-8876800 | Weak transcription | Fetal Brain Male | brain |
| 3 | chr18:8875200-8875800 | Enhancers | K562 | blood |
