Variant report
| Variant | esv3501604 |
|---|---|
| Chromosome Location | chr8:1324826-1324998 |
| 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 | rs138825439 | chr8:1324828-1324829 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs576209642 | chr8:1324845-1324846 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs545307208 | chr8:1324868-1324869 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs62484185 | chr8:1324870-1324871 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs113940417 | chr8:1324872-1324873 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs62484186 | chr8:1324873-1324874 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs386720613 | chr8:1324883-1324884 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs62484187 | chr8:1324889-1324890 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs374229761 | chr8:1324892-1324893 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs544158310 | chr8:1324908-1324909 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs67880847 | chr8:1324909-1324910 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs371348039 | chr8:1324914-1324915 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs572697395 | chr8:1324921-1324922 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs113294974 | chr8:1324934-1324935 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs113787410 | chr8:1324936-1324937 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs529782571 | chr8:1324958-1324959 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs549926720 | chr8:1324974-1324975 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs563398800 | chr8:1324976-1324977 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs371955565 | chr8:1324980-1324981 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs552124391 | chr8:1324983-1324984 | Bivalent Enhancer Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:116)
| Disease | PMID | Source |
|---|---|---|
| Ovarian cancer | 21720365 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Congenital diaphragmatic hernia | 21341218 | CNVD |
| Cancer | 18840272 | CNVD |
| Pilocytic astrocytoma | 18622384 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| abnormal development | 18461090 | CNVD |
| Crohn''s disease | 19220326 | CNVD |
| Psoriasis | 19220326 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Prostate cancer | 18515986 | CNVD |
| Chronic obstructive pulmonary disease | 20378733 | CNVD |
| Autism | 18414403 | CNVD |
| Cancer | 21183584 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Cervical cancer | 17311676 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Schizophrenia | 20877625 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Heart disease | 21282601 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Breast cancer | 17133270 | 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 |
| Oral cancer | 21386901 | CNVD |
| Prostate cancer | 21088497 | 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 |
| 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 |
| Cancer | 20164919 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21509527 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Epilepsy | 22083797 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 20531469 | CNVD |
| Breast cancer | 20932292 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Congenital diaphragmatic hernia | 21064195 | CNVD |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:1315800-1336800 | Weak transcription | Right Atrium | heart |
| 2 | chr8:1322000-1326400 | Weak transcription | Spleen | Spleen |
| 3 | chr8:1323200-1326200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 4 | chr8:1324200-1325000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 5 | chr8:1324200-1325200 | Bivalent Enhancer | HUES6 Cell Line | embryonic stem cell |
| 6 | chr8:1324200-1325200 | Bivalent Enhancer | iPS-18 Cell Line | embryonic stem cell |
| 7 | chr8:1324200-1325200 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 8 | chr8:1324200-1325400 | Bivalent Enhancer | H1 Cell Line | embryonic stem cell |
| 9 | chr8:1324400-1325000 | Bivalent Enhancer | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 10 | chr8:1324400-1325200 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 11 | chr8:1324400-1325200 | Enhancers | Fetal Brain Female | brain |
| 12 | chr8:1324400-1325400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 13 | chr8:1324400-1325600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 14 | chr8:1324600-1325200 | Bivalent Enhancer | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 15 | chr8:1324600-1325200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 16 | chr8:1324600-1325600 | Weak transcription | Brain Germinal Matrix | brain |
| 17 | chr8:1324800-1326000 | Weak transcription | Brain Anterior Caudate | brain |
| 18 | chr8:1324800-1326200 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 19 | chr8:1324800-1326600 | Weak transcription | Fetal Brain Male | brain |
