Variant report
Variant | nsv978221 |
---|---|
Chromosome Location | chr16:31968803-32007593 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:315)
- CpG islands (count:305)
- Chromatin interactive region (count:0)
- LncRNA region (count:3)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr16:31993231-31993281 | GM12878 | blood: | n/a |
2 | chr16:31990956-31991006 | A549 | lung: | n/a |
3 | chr16:31990956-31991006 | SKMC | muscle: | n/a |
4 | chr16:31995423-31995473 | AG09319 | gingival: | n/a |
5 | chr16:31993231-31993281 | GM12892 | blood: | n/a |
6 | chr16:31993231-31993281 | HL-60 | blood: | n/a |
7 | chr16:31997067-31997117 | HRCEpiC | kidney: | n/a |
8 | chr16:31993479-31993529 | HRCEpiC | kidney: | n/a |
9 | chr16:31993479-31993529 | AG09319 | gingival: | n/a |
10 | chr16:31997067-31997117 | Hepatocyte | liver: | n/a |
11 | chr16:31990956-31991006 | Hela-S3 | cervix: | n/a |
12 | chr16:31997067-31997117 | AG04450 | lung: | fetal |
13 | chr16:31995423-31995473 | CMK | blood: | n/a |
14 | chr16:31997067-31997117 | ProgFib | skin: | n/a |
15 | chr16:31995423-31995473 | BE2_C | brain: | n/a |
16 | chr16:31993231-31993281 | HEK293 | kidney: | embryo |
17 | chr16:31993479-31993529 | AG10803 | skin: | n/a |
18 | chr16:31993479-31993529 | K562 | blood: | n/a |
19 | chr16:31990956-31991006 | RPTEC | kidney: | n/a |
20 | chr16:31993479-31993529 | NHDF-neo | bronchial: | n/a |
21 | chr16:31993479-31993529 | GM19239 | blood: | n/a |
22 | chr16:31997067-31997117 | GM12878 | blood: | n/a |
23 | chr16:31997067-31997117 | GM12891 | blood: | n/a |
24 | chr16:31995423-31995473 | HMEC | breast: | n/a |
25 | chr16:31997067-31997117 | HL-60 | blood: | n/a |
26 | chr16:31995423-31995473 | ProgFib | skin: | n/a |
27 | chr16:31993231-31993281 | SKMC | muscle: | n/a |
28 | chr16:31993231-31993281 | SK-N-SH_RA | brain: | n/a |
29 | chr16:31995423-31995473 | K562 | blood: | n/a |
30 | chr16:31993231-31993281 | PFSK-1 | brain: | n/a |
31 | chr16:31990956-31991006 | NH-A | brain: | n/a |
32 | chr16:31990956-31991006 | T-47D | breast: | n/a |
33 | chr16:31993479-31993529 | GM12891 | blood: | n/a |
34 | chr16:31997067-31997117 | NHBE | bronchial: | n/a |
35 | chr16:31995423-31995473 | AG04450 | lung: | fetal |
36 | chr16:31997067-31997117 | Jurkat | blood: | n/a |
37 | chr16:31993231-31993281 | HRE | kidney: | n/a |
38 | chr16:31990956-31991006 | U87 | brain: | n/a |
39 | chr16:31990956-31991006 | CMK | blood: | n/a |
40 | chr16:31995423-31995473 | SKMC | muscle: | n/a |
41 | chr16:31993479-31993529 | GM06990 | blood: | n/a |
42 | chr16:31993231-31993281 | HCT-116 | colon: | n/a |
43 | chr16:31997067-31997117 | NT2-D1 | testis: | n/a |
44 | chr16:31997067-31997117 | NHDF-neo | bronchial: | n/a |
45 | chr16:31993479-31993529 | NH-A | brain: | n/a |
46 | chr16:31995423-31995473 | MCF10A-Er-Src | breast: | n/a |
47 | chr16:31997067-31997117 | PANC-1 | pancreas: | n/a |
48 | chr16:31997067-31997117 | HNPCEpiC | eye: | n/a |
49 | chr16:31993231-31993281 | AG04449 | skin: | fetal |
50 | chr16:31993479-31993529 | MCF10A-Er-Src | breast: | n/a |
No data |
(count:3 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ZNF267-4 | chr16:31973257-31973743 | NONHSAT141979 |
2 | lnc-ZNF267-4 | chr16:31975124-31975400 | NONHSAT141983 |
3 | lnc-ZNF267-4 | chr16:31972893-31972899 | NONHSAT141979 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000260628 | TF binding region |
ENSG00000197476 | TF binding region |
ENSG00000260218 | TF binding region |
ENSG00000260628 | CpG island |
ENSG00000197476 | CpG island |
ENSG00000260218 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7500857 | chr16:31971070-31971071 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
2 | rs7500861 | chr16:31971086-31971087 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
3 | rs113145928 | chr16:31971135-31971136 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
4 | rs369781302 | chr16:31971179-31971180 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
5 | rs201495592 | chr16:31971198-31971199 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
6 | rs182563267 | chr16:31971220-31971221 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
7 | rs150981497 | chr16:31971289-31971290 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
8 | rs552492481 | chr16:31971328-31971329 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
9 | rs571050649 | chr16:31971349-31971350 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
10 | rs199666081 | chr16:31971402-31971403 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs537935002 | chr16:31971410-31971411 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
12 | rs556631553 | chr16:31971411-31971412 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
13 | rs568083602 | chr16:31971412-31971413 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
14 | rs535461715 | chr16:31971424-31971425 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
15 | rs536110357 | chr16:31971436-31971437 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
16 | rs554404995 | chr16:31971456-31971457 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
17 | rs554560419 | chr16:31971457-31971458 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
18 | rs572793658 | chr16:31971551-31971552 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
19 | rs368643290 | chr16:31971561-31971562 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs371053439 | chr16:31971577-31971578 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
21 | rs187520711 | chr16:31971581-31971582 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
22 | rs577004096 | chr16:31971602-31971603 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
23 | rs543937629 | chr16:31971603-31971604 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
24 | rs537197577 | chr16:31971606-31971607 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
25 | rs367794934 | chr16:31971624-31971625 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
26 | rs62054095 | chr16:31971632-31971633 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
27 | rs62054096 | chr16:31971645-31971646 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
28 | rs574444679 | chr16:31971648-31971649 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
29 | rs188534962 | chr16:31971682-31971683 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
30 | rs191985872 | chr16:31971693-31971694 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
31 | rs113485616 | chr16:31971702-31971703 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
32 | rs147193440 | chr16:31971705-31971706 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
33 | rs149780526 | chr16:31971707-31971708 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
34 | rs62054097 | chr16:31971719-31971720 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
35 | rs146612375 | chr16:31971728-31971729 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
36 | rs199521268 | chr16:31971786-31971787 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
37 | rs527956073 | chr16:31971787-31971788 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
38 | rs552865248 | chr16:31971793-31971794 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
39 | rs564486076 | chr16:31971798-31971799 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
40 | rs367875121 | chr16:31971810-31971811 | ZNF genes & repeats | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
41 | rs558349153 | chr16:31971869-31971870 | ZNF genes & repeats | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
42 | rs112893548 | chr16:31971875-31971876 | ZNF genes & repeats | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
43 | rs71391231 | chr16:31971891-31971892 | ZNF genes & repeats | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
44 | rs568227210 | chr16:31971896-31971897 | ZNF genes & repeats | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
45 | rs535595404 | chr16:31971900-31971901 | ZNF genes & repeats | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
46 | rs375145432 | chr16:31971928-31971929 | ZNF genes & repeats | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
47 | rs370186280 | chr16:31971960-31971961 | ZNF genes & repeats | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
48 | rs565766577 | chr16:31971999-31972000 | ZNF genes & repeats | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
49 | rs533830393 | chr16:31972001-31972002 | ZNF genes & repeats | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
50 | rs558829995 | chr16:31972002-31972003 | ZNF genes & repeats | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
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 |
Breast cancer | 21509527 | 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 |
Bladder cancer | 21909424 | CNVD |
small cell lung cancer | 20016488 | 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 |
Sezary syndrome | 18413736 | CNVD |
Wilms tumour | 21544195 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Cancer | 20164920 | CNVD |
Autism | 19287141 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Schizophrenia | 20967226 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr16:31971800-31972200 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
2 | chr16:32002400-32002800 | Enhancers | HepG2 | liver |