Variant report
| Variant | nsv1027296 |
|---|---|
| Chromosome Location | chr5:45939287-46389261 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:175202235..175203755-chr5:46204424..46205944,2 | MCF-7 | breast: | |
| 2 | chr1:121483702..121485225-chr5:46334811..46336331,2 | MCF-7 | breast: | |
| 3 | chr1:63102529..63105125-chr5:46100658..46103318,2 | MCF-7 | breast: | |
| 4 | chr4:68265057..68265577-chr5:46205420..46205943,2 | MCF-7 | breast: | |
| 5 | chr17:57915525..57918399-chr5:46361638..46364174,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs528890500 | chr5:45942823-45942824 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs541273346 | chr5:45942841-45942842 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs577024532 | chr5:45942868-45942869 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs545534943 | chr5:45942869-45942870 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs147268208 | chr5:45942909-45942910 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs531176658 | chr5:45942925-45942926 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs541796435 | chr5:45942927-45942928 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs562075791 | chr5:45942943-45942944 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs183077032 | chr5:45942944-45942945 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs547622397 | chr5:45942959-45942960 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs564297408 | chr5:45942967-45942968 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs56155499 | chr5:45942996-45942997 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs549977211 | chr5:45942997-45942998 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs7723218 | chr5:45943118-45943119 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 15 | rs535516161 | chr5:45943123-45943124 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs376253633 | chr5:45943152-45943153 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs187766802 | chr5:45943179-45943180 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs533154146 | chr5:45943189-45943190 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs371011879 | chr5:45943200-45943201 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs554011789 | chr5:45943239-45943240 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs577083267 | chr5:45943253-45943254 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs539534006 | chr5:45943258-45943259 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs556017086 | chr5:45943277-45943278 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs190800302 | chr5:45943300-45943301 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs375610356 | chr5:45943308-45943309 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs147467476 | chr5:45943327-45943328 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs551636858 | chr5:45943380-45943381 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs572416715 | chr5:45943389-45943390 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs183902234 | chr5:45943393-45943394 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs140766504 | chr5:45943430-45943431 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs541281923 | chr5:45943433-45943434 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs564362903 | chr5:45943435-45943436 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs533330768 | chr5:45943443-45943444 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs550333414 | chr5:45943465-45943466 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs530999576 | chr5:45943519-45943520 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs563659194 | chr5:45943522-45943523 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs150659111 | chr5:45943536-45943537 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs549408012 | chr5:45943575-45943576 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs566031947 | chr5:45943581-45943582 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs201505677 | chr5:45943593-45943594 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs139868214 | chr5:45943605-45943606 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs187740583 | chr5:45943620-45943621 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs370548503 | chr5:45943669-45943670 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs539281147 | chr5:45943673-45943674 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs567613938 | chr5:45943675-45943676 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs556317134 | chr5:45943681-45943682 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs576099822 | chr5:45943691-45943692 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs535494894 | chr5:45943692-45943693 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs554948374 | chr5:45943699-45943700 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs192610442 | chr5:45943704-45943705 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:83)
| Disease | PMID | Source |
|---|---|---|
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Cervical Cancer | 21857958 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Cervical cancer | 18559093 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Malaria | 21533027 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Gastric cancer | 22152101 | CNVD |
| Oesophago-gastric ulcer | 22152101 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| DNA damage stimulus | 22844521 | CNVD |
| DNA repair | 22844521 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Spinal muscular atrophy | 22422766 | CNVD |
| Spinal muscular atrophy | 22558076 | CNVD |
| Spinal muscular atrophy | 21320981 | CNVD |
| Spinal muscular atrophy | 21762474 | CNVD |
| Cancer | 16751803 | CNVD |
| Autism | 22495311 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21183584 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioma | 20126413 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Cervical squamous cell carcinoma | 21590768 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Cancer | 21359685 | CNVD |
| adenomatous polyposis | 22470819 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 20164920 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Medulloblastoma | 21163964 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:45942800-45950000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr5:45942800-45954200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 3 | chr5:45943000-45943600 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 4 | chr5:45946200-45953200 | ZNF genes & repeats | Liver | Liver |
| 5 | chr5:45947200-45950000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 6 | chr5:45948600-45950000 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 7 | chr5:45949400-45950800 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 8 | chr5:45950800-45951000 | ZNF genes & repeats | Psoas Muscle | Psoas |
| 9 | chr5:45951600-45962200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 10 | chr5:45951800-45956800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 11 | chr5:45954800-45955400 | Active TSS | Right Atrium | heart |
| 12 | chr5:45955200-45955400 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 13 | chr5:45956200-45957800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 14 | chr5:45956600-45957000 | Active TSS | Fetal Heart | heart |
| 15 | chr5:45957200-45958400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 16 | chr5:45959600-45959800 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 17 | chr5:45960800-45961600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 18 | chr5:45963000-45966800 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 19 | chr5:45963200-45968200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 20 | chr5:45964600-45967800 | ZNF genes & repeats | Liver | Liver |
| 21 | chr5:45964800-45968000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 22 | chr5:45965400-45965600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 23 | chr5:45966400-45968000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 24 | chr5:45966600-45968600 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 25 | chr5:45970000-45972600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 26 | chr5:45974600-45975200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 27 | chr5:45975000-45975800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 28 | chr5:45982800-45984800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 29 | chr5:45983200-45984400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 30 | chr5:45984200-45987000 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 31 | chr5:45987000-45991600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 32 | chr5:45987200-45987400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 33 | chr5:45987400-45988200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 34 | chr5:45988000-45988200 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 35 | chr5:45990400-45999400 | ZNF genes & repeats | Liver | Liver |
| 36 | chr5:45993000-45998800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 37 | chr5:45994000-45994600 | ZNF genes & repeats | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 38 | chr5:45994200-45997200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 39 | chr5:45997400-45997600 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 40 | chr5:45998800-45999600 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 41 | chr5:46010200-46013000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 42 | chr5:46010600-46014400 | ZNF genes & repeats | Liver | Liver |
| 43 | chr5:46011800-46016800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 44 | chr5:46014000-46019000 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 45 | chr5:46016600-46020200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 46 | chr5:46017400-46018800 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 47 | chr5:46018000-46028600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 48 | chr5:46018200-46021800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 49 | chr5:46019000-46022600 | ZNF genes & repeats | Liver | Liver |
| 50 | chr5:46021600-46022000 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
