Variant report
| Variant | esv3331613 |
|---|---|
| Chromosome Location | chr8:9252992-9255040 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
(count:2 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-PPP1R3B-6 | chr8:9254520-9254602 | l_3545_chr8:9246176-9254602_testes |
| 2 | lnc-PPP1R3B-6 | chr8:9253261-9253358 | l_3545_chr8:9246176-9254602_testes |
| No data |
| No data |
| No data |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs149900636 | chr8:9253011-9253012 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs541427369 | chr8:9253026-9253027 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs184582948 | chr8:9253027-9253028 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs112144974 | chr8:9253072-9253073 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs531334652 | chr8:9253090-9253091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs575788136 | chr8:9253104-9253105 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs149032046 | chr8:9253117-9253118 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs554716776 | chr8:9253126-9253127 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs537290815 | chr8:9253156-9253157 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs7828601 | chr8:9253175-9253176 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 11 | rs540255087 | chr8:9253177-9253178 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs560221916 | chr8:9253221-9253222 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs12677096 | chr8:9253226-9253227 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs367717026 | chr8:9253247-9253248 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs76056723 | chr8:9253250-9253251 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs531407595 | chr8:9253276-9253277 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 17 | rs78087075 | chr8:9253279-9253280 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 18 | rs377730937 | chr8:9253293-9253294 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 19 | rs561059884 | chr8:9253343-9253344 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 20 | rs7828815 | chr8:9253359-9253360 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs547536828 | chr8:9253376-9253377 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs546567857 | chr8:9253417-9253418 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs566561434 | chr8:9253507-9253508 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs370088785 | chr8:9253512-9253513 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs539308393 | chr8:9253522-9253523 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs552641179 | chr8:9253545-9253546 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs78550536 | chr8:9253551-9253552 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs538072714 | chr8:9253577-9253578 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs113422149 | chr8:9253597-9253598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs568141279 | chr8:9253607-9253608 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs533911600 | chr8:9253644-9253645 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs529212049 | chr8:9253687-9253688 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs200658821 | chr8:9253688-9253689 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs77069629 | chr8:9253705-9253706 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs76539721 | chr8:9253715-9253716 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs374739124 | chr8:9253718-9253719 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs377453673 | chr8:9253721-9253722 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs66606860 | chr8:9253722-9253723 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs62493843 | chr8:9253725-9253726 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs76874309 | chr8:9253728-9253729 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs79498089 | chr8:9253729-9253730 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs200846898 | chr8:9253731-9253732 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs78981621 | chr8:9253733-9253734 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs377442585 | chr8:9253743-9253744 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs371105264 | chr8:9253746-9253747 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs374634206 | chr8:9253747-9253748 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs576812997 | chr8:9253749-9253750 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs62493844 | chr8:9253753-9253754 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs12541684 | chr8:9253755-9253756 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs12544363 | chr8:9253757-9253758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:137)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Prostate cancer | 16573809 | 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 |
| 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 lymphoblastic leukemia | 22237106 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Congenital diaphragmatic hernia | 21064195 | CNVD |
| Autism | 22495311 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Seminomas | 18059402 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Lung squamous cell carcinoma | 22363434 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Gastric cancer | 18160780 | CNVD |
| Breast cancer | 21990379 | CNVD |
| Psoriasis | 20403174 | CNVD |
| Psoriasis | 20663923 | CNVD |
| Crohn''s disease | 16909382 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Crohn''s disease | 20877625 | CNVD |
| Inflammatory disorder | 20877625 | CNVD |
| Cardiac defect | 21933911 | CNVD |
| Psoriasis | 18059266 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Psoriasis | 20877625 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Colorectal cancer | 21128281 | CNVD |
| Colorectal cancer | 19455253 | CNVD |
| Psoriasis | 18848619 | CNVD |
| Squamous cell cancer | 19047905 | CNVD |
| Colorectal cancer | 17229543 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Immune disease | 21572526 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Kallmann Syndrome 2 | 22470819 | CNVD |
| Developmental disorder | 20461109 | CNVD |
| abnormal development | 18461090 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:9248000-9260000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
