Variant report
| Variant | esv2247712 |
|---|---|
| Chromosome Location | chr8:1337243-1337671 |
| 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:33 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs560240752 | chr8:1337246-1337247 | Weak transcription ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs529050262 | chr8:1337267-1337268 | Weak transcription ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs549207358 | chr8:1337279-1337280 | Weak transcription ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs4976882 | chr8:1337345-1337346 | Weak transcription ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs115305540 | chr8:1337354-1337355 | Weak transcription ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs551728622 | chr8:1337355-1337356 | Weak transcription ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs140210739 | chr8:1337357-1337358 | Weak transcription ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs539865697 | chr8:1337393-1337394 | Weak transcription ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs13277339 | chr8:1337395-1337396 | Weak transcription ZNF genes & repeats Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs566961199 | chr8:1337396-1337397 | Weak transcription ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs145256486 | chr8:1337398-1337399 | Weak transcription ZNF genes & repeats Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs77774333 | chr8:1337405-1337406 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs111732333 | chr8:1337410-1337411 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs13277350 | chr8:1337414-1337415 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs375873555 | chr8:1337424-1337425 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs202076616 | chr8:1337425-1337426 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs558466740 | chr8:1337432-1337433 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs79796634 | chr8:1337436-1337437 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs118051867 | chr8:1337445-1337446 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs59953961 | chr8:1337453-1337454 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs13266620 | chr8:1337468-1337469 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs542816838 | chr8:1337472-1337473 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs35523379 | chr8:1337482-1337483 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs397721640 | chr8:1337483-1337484 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs562651010 | chr8:1337563-1337564 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs531570855 | chr8:1337572-1337573 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs551380149 | chr8:1337591-1337592 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs189813462 | chr8:1337596-1337597 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs551287787 | chr8:1337643-1337644 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs533131203 | chr8:1337648-1337649 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs569518365 | chr8:1337656-1337657 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs78371109 | chr8:1337664-1337665 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs566595963 | chr8:1337671-1337672 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:118)
| 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 |
| Congenital diaphragmatic hernia | 21064195 | CNVD |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:1336200-1337600 | Weak transcription | Fetal Brain Male | brain |
| 2 | chr8:1336400-1338800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 3 | chr8:1337200-1338000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 4 | chr8:1337200-1338600 | Bivalent Enhancer | Fetal Stomach | stomach |
| 5 | chr8:1337400-1337600 | Enhancers | Brain Anterior Caudate | brain |
| 6 | chr8:1337400-1337800 | Enhancers | Fetal Muscle Trunk | muscle |
| 7 | chr8:1337600-1339000 | Enhancers | Fetal Brain Male | brain |
