Variant report
| Variant | esv3421299 |
|---|---|
| Chromosome Location | chr8:34311710-34315908 |
| 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:38 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs540522772 | chr8:34311742-34311743 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs118073188 | chr8:34311743-34311744 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs543378704 | chr8:34311753-34311754 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs186791608 | chr8:34311756-34311757 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs576775414 | chr8:34311765-34311766 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs540990705 | chr8:34311766-34311767 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs559188021 | chr8:34311778-34311779 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs16882210 | chr8:34311816-34311817 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs547873321 | chr8:34311845-34311846 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs563588950 | chr8:34311864-34311865 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs199824876 | chr8:34311924-34311925 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs201779673 | chr8:34311925-34311926 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs11297538 | chr8:34311926-34311927 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs73674363 | chr8:34311935-34311936 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs397817572 | chr8:34311939-34311940 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs193248422 | chr8:34311978-34311979 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs538410094 | chr8:34314647-34314648 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs11283946 | chr8:34314654-34314655 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs201643796 | chr8:34314676-34314677 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs556838281 | chr8:34314716-34314717 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs190061213 | chr8:34314740-34314741 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs77314375 | chr8:34314775-34314776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs553921162 | chr8:34314789-34314790 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs572085684 | chr8:34314843-34314844 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs542745986 | chr8:34314847-34314848 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs550230250 | chr8:34314849-34314850 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs56355533 | chr8:34314868-34314869 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs182692438 | chr8:34314872-34314873 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs67908341 | chr8:34314898-34314899 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 30 | rs28521494 | chr8:34314956-34314957 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 31 | rs533114803 | chr8:34315006-34315007 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs13264902 | chr8:34315034-34315035 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 33 | rs539678043 | chr8:34315070-34315071 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs566504106 | chr8:34315094-34315095 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs13272790 | chr8:34315127-34315128 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 36 | rs140752212 | chr8:34315138-34315139 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs567344716 | chr8:34315149-34315150 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs149668720 | chr8:34315185-34315186 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:117)
| Disease | PMID | Source |
|---|---|---|
| Salivary gland tumor | 18059337 | CNVD |
| Breast cancer | 17133270 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 22429812 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Breast cancer | 20940404 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| 8p-syndrome | 17576883 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Cancer | 16751803 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21509527 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Seminomas | 18059402 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Immune disease | 21572526 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Kallmann Syndrome 2 | 22470819 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Developmental delay | 21373258 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Melanoma | 20688739 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Bladder cancer | 19088036 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Breast cancer | 20459607 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
| Breast cancer | 17001308 | CNVD |
| Breast cancer | 17157792 | CNVD |
| Cancer | 17001308 | CNVD |
| Cancer | 18840272 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Chordoma | 18071362 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Ductal carcinoma | 18381933 | CNVD |
| Breast cancer | 21328542 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Lung cancer | 17925434 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:34311400-34311800 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr8:34311800-34312000 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr8:34314600-34314800 | Enhancers | H9 Cell Line | embryonic stem cell |
| 4 | chr8:34314800-34315200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
