Variant report
| Variant | nsv960017 |
|---|---|
| Chromosome Location | chr16:34224780-34366675 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:292)
- CpG islands (count:1343)
- Chromatin interactive region (count:1)
- LncRNA region (count:6)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr16:34265361-34265411 | HNPCEpiC | eye: | n/a |
| 2 | chr16:34265361-34265411 | HNPCEpiC | eye: | n/a |
| 3 | chr16:34256776-34256826 | GM06990 | blood: | n/a |
| 4 | chr16:34295916-34295966 | ovcar-3 | ovarian: | n/a |
| 5 | chr16:34296108-34296158 | HIPEpiC | eye: | n/a |
| 6 | chr16:34265361-34265411 | NHBE | bronchial: | n/a |
| 7 | chr16:34256428-34256478 | HL-60 | blood: | n/a |
| 8 | chr16:34257432-34257482 | HRE | kidney: | n/a |
| 9 | chr16:34293278-34293328 | HAEpiC | amniotic membrane: | n/a |
| 10 | chr16:34295778-34295828 | HNPCEpiC | eye: | n/a |
| 11 | chr16:34256776-34256826 | HEK293 | kidney: | embryo |
| 12 | chr16:34258406-34258456 | SKMC | muscle: | n/a |
| 13 | chr16:34257749-34257799 | HEEpiC | esophagus: | n/a |
| 14 | chr16:34265361-34265411 | NB4 | blood: | n/a |
| 15 | chr16:34257432-34257482 | HL-60 | blood: | n/a |
| 16 | chr16:34255535-34255585 | NHBE | bronchial: | n/a |
| 17 | chr16:34256428-34256478 | NB4 | blood: | n/a |
| 18 | chr16:34295778-34295828 | HRPEpiC | eye: | n/a |
| 19 | chr16:34265361-34265411 | CMK | blood: | n/a |
| 20 | chr16:34295916-34295966 | HCT-116 | colon: | n/a |
| 21 | chr16:34295377-34295427 | LNCaP | prostate: | n/a |
| 22 | chr16:34265361-34265411 | BE2_C | brain: | n/a |
| 23 | chr16:34257170-34257220 | SKMC | muscle: | n/a |
| 24 | chr16:34257749-34257799 | ovcar-3 | ovarian: | n/a |
| 25 | chr16:34265361-34265411 | GM19239 | blood: | n/a |
| 26 | chr16:34264585-34264635 | PANC-1 | pancreas: | n/a |
| 27 | chr16:34257574-34257624 | HCM | heart: | n/a |
| 28 | chr16:34265361-34265411 | ProgFib | skin: | n/a |
| 29 | chr16:34295778-34295828 | MCF10A-Er-Src | breast: | n/a |
| 30 | chr16:34255535-34255585 | HUVEC | blood vessel: | n/a |
| 31 | chr16:34265361-34265411 | SK-N-MC | brain: | n/a |
| 32 | chr16:34296108-34296158 | ECC-1 | luminal epithelium: | n/a |
| 33 | chr16:34257749-34257799 | NHDF-neo | bronchial: | n/a |
| 34 | chr16:34261438-34261488 | HPAEpiC | pulmonary alveolar: | n/a |
| 35 | chr16:34257170-34257220 | RPTEC | kidney: | n/a |
| 36 | chr16:34257432-34257482 | Hepatocyte | liver: | n/a |
| 37 | chr16:34257170-34257220 | SK-N-MC | brain: | n/a |
| 38 | chr16:34264585-34264635 | Hela-S3 | cervix: | n/a |
| 39 | chr16:34252958-34253008 | HIPEpiC | eye: | n/a |
| 40 | chr16:34258406-34258456 | ECC-1 | luminal epithelium: | n/a |
| 41 | chr16:34264585-34264635 | HEK293 | kidney: | embryo |
| 42 | chr16:34257574-34257624 | Jurkat | blood: | n/a |
| 43 | chr16:34292178-34292228 | HMEC | breast: | n/a |
| 44 | chr16:34258406-34258456 | PrEC | prostate: | n/a |
| 45 | chr16:34264585-34264635 | GM06990 | blood: | n/a |
| 46 | chr16:34293670-34293720 | K562 | blood: | n/a |
| 47 | chr16:34256776-34256826 | SK-N-SH | brain: | n/a |
| 48 | chr16:34299638-34299688 | K562 | blood: | n/a |
| 49 | chr16:34252958-34253008 | MCF10A-Er-Src | breast: | n/a |
| 50 | chr16:34256428-34256478 | GM06990 | blood: | n/a |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr16:34256831..34259830-chr17:41380416..41383304,2 | K562 | blood: |
(count:6 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-CTD-2144E22.5.1-10 | chr16:34232106-34232469 | NONHSAT142142 |
| 2 | lnc-LINC00273-4 | chr16:34259780-34260039 | XLOC_011926 |
| 3 | lnc-LINC00273-4 | chr16:34263773-34263963 | NONHSAT142147 |
| 4 | lnc-LINC00273-4 | chr16:34263773-34263920 | XLOC_011926 |
| 5 | lnc-CTD-2144E22.5.1-12 | chr16:34320267-34320490 | NONHSAT142151 |
| 6 | lnc-LINC00273-4 | chr16:34261392-34261835 | NONHSAT142147 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000261053 | TF binding region |
| ENSG00000179755 | TF binding region |
| ENSG00000262885 | TF binding region |
| CCNYL3 | TF binding region |
| ENSG00000260809 | TF binding region |
| ENSG00000256579 | TF binding region |
| VN1R69P | TF binding region |
| VN1R68P | TF binding region |
| ENSG00000261566 | TF binding region |
| ENSG00000261053 | CpG island |
| ENSG00000179755 | CpG island |
| ENSG00000262885 | CpG island |
| CCNYL3 | CpG island |
| ENSG00000260809 | CpG island |
| ENSG00000256579 | CpG island |
| VN1R69P | CpG island |
| VN1R68P | CpG island |
| ENSG00000261566 | CpG island |
| ENSG00000236383 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs371189237 | chr16:34225264-34225265 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs191575391 | chr16:34225307-34225308 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs555189792 | chr16:34225320-34225321 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs573508590 | chr16:34225334-34225335 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs28758584 | chr16:34225345-34225346 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs112624467 | chr16:34225406-34225407 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs184449941 | chr16:34225424-34225425 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs535831551 | chr16:34225426-34225427 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs532119315 | chr16:34225466-34225467 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs78247884 | chr16:34225472-34225473 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs77262275 | chr16:34225495-34225496 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs144267108 | chr16:34225523-34225524 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs56066726 | chr16:34225526-34225527 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs189581764 | chr16:34225540-34225541 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs147799301 | chr16:34225555-34225556 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs112491704 | chr16:34227397-34227398 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs555587649 | chr16:34227415-34227416 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs28608925 | chr16:34227480-34227481 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs541249807 | chr16:34227487-34227488 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs560538664 | chr16:34227549-34227550 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs144408182 | chr16:34227551-34227552 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs370733117 | chr16:34227626-34227627 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs545833140 | chr16:34227662-34227663 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs373726092 | chr16:34227664-34227665 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs147832602 | chr16:34227680-34227681 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs550482959 | chr16:34227710-34227711 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs568292536 | chr16:34227728-34227729 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs529417044 | chr16:34227741-34227742 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 29 | rs547598180 | chr16:34227742-34227743 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 30 | rs62059469 | chr16:34227746-34227747 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 31 | rs202044711 | chr16:34229591-34229592 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs200024816 | chr16:34229593-34229594 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs532425608 | chr16:34229603-34229604 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 34 | rs112721735 | chr16:34229608-34229609 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 35 | rs562466276 | chr16:34229618-34229619 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 36 | rs529808265 | chr16:34229645-34229646 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 37 | rs200813993 | chr16:34229659-34229660 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 38 | rs201668862 | chr16:34229703-34229704 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 39 | rs200123598 | chr16:34229705-34229706 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 40 | rs201043451 | chr16:34229709-34229710 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 41 | rs376858496 | chr16:34229726-34229727 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 42 | rs189576772 | chr16:34229728-34229729 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 43 | rs567376020 | chr16:34229769-34229770 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 44 | rs534852906 | chr16:34229785-34229786 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 45 | rs58165907 | chr16:34229830-34229831 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 46 | rs180798942 | chr16:34229896-34229897 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 47 | rs539296187 | chr16:34229923-34229924 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 48 | rs371538126 | chr16:34229961-34229962 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 49 | rs557341929 | chr16:34229972-34229973 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
| 50 | rs111426982 | chr16:34229975-34229976 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:128)
| Disease | PMID | Source |
|---|---|---|
| Hodgkin''s lymphoma | 20651079 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Melanoma | 18172304 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Autism | 22566537 | CNVD |
| Intellectual disability | 22566537 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Mental retardation | 19951919 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 21785460 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Breast cancer | 21990379 | CNVD |
| Astrocytoma | 22246337 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Epilepsy | 22499536 | CNVD |
| Attention deficit hyperactivity disorder | 21324949 | CNVD |
| Austim spectrum disorder | 21302340 | CNVD |
| Autism | 22513405 | CNVD |
| Autism | 22958593 | CNVD |
| Autism | 18184952 | CNVD |
| Autism | 19966786 | CNVD |
| Autism | 21394203 | CNVD |
| Autism | 21969575 | CNVD |
| Autism | 22241247 | CNVD |
| Autism | 20970697 | CNVD |
| Autism | 20942916 | CNVD |
| Epilepsy | 20970697 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Mental retardation | 19966786 | CNVD |
| Developmental delay | 20808231 | CNVD |
| Obesity | 20808231 | CNVD |
| Autism | 18923514 | CNVD |
| Obesity | 21881559 | CNVD |
| Obesity | 21956041 | CNVD |
| Autism | 20659124 | CNVD |
| Mental retardation | 21062444 | CNVD |
| Schizophrenia | 20587603 | CNVD |
| Schizophrenia | 21285140 | CNVD |
| Schizophrenia | 22885689 | CNVD |
| Schizophrenia | 20553308 | CNVD |
| Schizophrenia | 20970697 | CNVD |
| Schizophrenia | 20433910 | CNVD |
| Schizophrenia | 22241247 | CNVD |
| Autism | 19242545 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Intracranial ependymoma | 16609018 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Autism | 21956041 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Autism | 22067053 | CNVD |
| Autism | 18156158 | CNVD |
| Mental retardation | 20152051 | CNVD |
| Autism | 19218893 | CNVD |
| Autism | 21289514 | CNVD |
| Schizophrenia | 19855392 | CNVD |
| neurodevelopmental Syndrome | 20503337 | CNVD |
| Benign familial neonatal-infantile seizures | 21060786 | CNVD |
| Low-grade fibromyxoid sarcoma | 0 | CNVD |
| Cancer | 21183584 | CNVD |
| Low-grade fibromyxoid sarcoma | 21536545 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Neuroblastoma | 20406844 | CNVD |
| Autism | 19050728 | CNVD |
| Epilepsy | 20923578 | CNVD |
| Psychiatric disorder | 19050728 | CNVD |
| Schizophrenia | 19348701 | CNVD |
| Attention deficit hyperactivity disorder | 19097825 | CNVD |
| Autism | 20964600 | CNVD |
| Schizophrenia | 19955444 | CNVD |
| Schizophrenia | 18990708 | CNVD |
| Schizophrenia | 19571808 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Severe combined immunodeficiency | 19097825 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Autism | 18522746 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Cancer | 20164920 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Melanoma | 20877625 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| Williams Syndrome | 20824207 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Bipolar disorder | 19214233 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:34225200-34225600 | Active TSS | Fetal Heart | heart |
| 2 | chr16:34234400-34237600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr16:34240600-34241000 | Active TSS | Fetal Heart | heart |
| 4 | chr16:34248600-34251400 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 5 | chr16:34257000-34257600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 6 | chr16:34257400-34258200 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
| 7 | chr16:34261800-34262200 | Active TSS | Fetal Heart | heart |
| 8 | chr16:34264400-34265200 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 9 | chr16:34267400-34267600 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 10 | chr16:34268200-34268400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 11 | chr16:34268600-34268800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 12 | chr16:34285000-34285600 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 13 | chr16:34285600-34286400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 14 | chr16:34286200-34287200 | Enhancers | Colon Smooth Muscle | Colon |
| 15 | chr16:34286400-34286800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 16 | chr16:34287200-34288000 | Weak transcription | Colon Smooth Muscle | Colon |
| 17 | chr16:34288200-34288400 | Enhancers | Colon Smooth Muscle | Colon |
| 18 | chr16:34299000-34299600 | ZNF genes & repeats | Spleen | Spleen |
| 19 | chr16:34299000-34303000 | ZNF genes & repeats | Duodenum Mucosa | Duodenum |
| 20 | chr16:34299000-34303200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 21 | chr16:34300000-34304400 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 22 | chr16:34301000-34301200 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 23 | chr16:34301200-34301600 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 24 | chr16:34301800-34302800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 25 | chr16:34302000-34305400 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 26 | chr16:34302200-34302800 | ZNF genes & repeats | Rectal Smooth Muscle | rectum |
| 27 | chr16:34309600-34310000 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
| 28 | chr16:34315800-34316000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 29 | chr16:34315800-34316600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 30 | chr16:34315800-34320600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 31 | chr16:34353000-34353200 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
