Variant report
Variant | nsv827629 |
---|---|
Chromosome Location | chr16:33773075-33853577 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:292)
- CpG islands (count:977)
- Chromatin interactive region (count:0)
- LncRNA region (count:9)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr16:33851284-33851334 | LNCaP | prostate: | n/a |
2 | chr16:33851284-33851334 | LNCaP | prostate: | n/a |
3 | chr16:33853473-33853523 | ProgFib | skin: | n/a |
4 | chr16:33852801-33852851 | PrEC | prostate: | n/a |
5 | chr16:33817457-33817507 | RPTEC | kidney: | n/a |
6 | chr16:33821339-33821389 | ECC-1 | luminal epithelium: | n/a |
7 | chr16:33815990-33816040 | HAEpiC | amniotic membrane: | n/a |
8 | chr16:33783802-33783852 | IMR90 | lung: | fetal |
9 | chr16:33818253-33818303 | HAEpiC | amniotic membrane: | n/a |
10 | chr16:33817457-33817507 | NHDF-neo | bronchial: | n/a |
11 | chr16:33781365-33781415 | NB4 | blood: | n/a |
12 | chr16:33851284-33851334 | BE2_C | brain: | n/a |
13 | chr16:33852801-33852851 | SAEC | small airway: | n/a |
14 | chr16:33817457-33817507 | AG04449 | skin: | fetal |
15 | chr16:33817129-33817179 | GM12891 | blood: | n/a |
16 | chr16:33783802-33783852 | BJ | skin: | n/a |
17 | chr16:33815990-33816040 | GM12878 | blood: | n/a |
18 | chr16:33783802-33783852 | HRPEpiC | eye: | n/a |
19 | chr16:33776910-33776960 | U87 | brain: | n/a |
20 | chr16:33817992-33818042 | HRCEpiC | kidney: | n/a |
21 | chr16:33852823-33852873 | BJ | skin: | n/a |
22 | chr16:33851284-33851334 | NHDF-neo | bronchial: | n/a |
23 | chr16:33783802-33783852 | SAEC | small airway: | n/a |
24 | chr16:33817129-33817179 | SAEC | small airway: | n/a |
25 | chr16:33852823-33852873 | SAEC | small airway: | n/a |
26 | chr16:33815990-33816040 | RPTEC | kidney: | n/a |
27 | chr16:33821339-33821389 | SK-N-SH | brain: | n/a |
28 | chr16:33851284-33851334 | A549 | lung: | n/a |
29 | chr16:33852823-33852873 | NHDF-neo | bronchial: | n/a |
30 | chr16:33818253-33818303 | NHDF-neo | bronchial: | n/a |
31 | chr16:33815990-33816040 | HIPEpiC | eye: | n/a |
32 | chr16:33852801-33852851 | HNPCEpiC | eye: | n/a |
33 | chr16:33776910-33776960 | Hepatocyte | liver: | n/a |
34 | chr16:33815990-33816040 | HRPEpiC | eye: | n/a |
35 | chr16:33817992-33818042 | BJ | skin: | n/a |
36 | chr16:33853176-33853226 | PFSK-1 | brain: | n/a |
37 | chr16:33817457-33817507 | SAEC | small airway: | n/a |
38 | chr16:33853544-33853594 | HL-60 | blood: | n/a |
39 | chr16:33779917-33779967 | ProgFib | skin: | n/a |
40 | chr16:33781365-33781415 | HRCEpiC | kidney: | n/a |
41 | chr16:33853544-33853594 | SAEC | small airway: | n/a |
42 | chr16:33818253-33818303 | Jurkat | blood: | n/a |
43 | chr16:33853473-33853523 | GM12878 | blood: | n/a |
44 | chr16:33851284-33851334 | Caco-2 | colon: | n/a |
45 | chr16:33852801-33852851 | MCF-7 | breast: | n/a |
46 | chr16:33818253-33818303 | BJ | skin: | n/a |
47 | chr16:33783802-33783852 | ProgFib | skin: | n/a |
48 | chr16:33779917-33779967 | HNPCEpiC | eye: | n/a |
49 | chr16:33815990-33816040 | NHDF-neo | bronchial: | n/a |
50 | chr16:33817457-33817507 | NT2-D1 | testis: | n/a |
No data |
(count:9 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-AC140658.1-6 | chr16:33777416-33777550 | ENSG00000205452.4 |
2 | lnc-AC140658.1-6 | chr16:33776448-33776670 | ENSG00000205452.4 |
3 | lnc-AC140658.1-6 | chr16:33775514-33776189 | ENSG00000205452.4 |
4 | lnc-AC140658.1-6 | chr16:33777235-33777744 | ENSG00000205452.4 |
5 | lnc-AC140658.1-6 | chr16:33776833-33776957 | ENSG00000205452.4 |
6 | lnc-AC140658.1-6 | chr16:33777320-33777532 | ENSG00000205452.4 |
7 | lnc-AC140658.1-6 | chr16:33778750-33778813 | ENSG00000205452.4 |
8 | lnc-AC140658.1-6 | chr16:33775379-33776670 | ENSG00000205452.4 |
9 | lnc-AC140658.1-6 | chr16:33776476-33776670 | ENSG00000205452.4 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000205452 | TF binding region |
ENSG00000198555 | TF binding region |
ENSG00000270401 | TF binding region |
ENSG00000261217 | TF binding region |
ENSG00000261197 | TF binding region |
ENSG00000259990 | TF binding region |
ENSG00000205452 | CpG island |
ENSG00000198555 | CpG island |
ENSG00000270401 | CpG island |
ENSG00000261217 | CpG island |
ENSG00000261197 | CpG island |
ENSG00000259990 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs146869809 | chr16:33773732-33773733 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs62040311 | chr16:33773747-33773748 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs571979498 | chr16:33773771-33773772 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs539304768 | chr16:33773839-33773840 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs661389 | chr16:33773854-33773855 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs557016262 | chr16:33773861-33773862 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs575339732 | chr16:33773865-33773866 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs542593134 | chr16:33773879-33773880 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs554410282 | chr16:33773893-33773894 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs561485544 | chr16:33773894-33773895 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs368912729 | chr16:33773922-33773923 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs531790216 | chr16:33773924-33773925 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs79432092 | chr16:33773925-33773926 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs369055419 | chr16:33773963-33773964 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs564700764 | chr16:33774006-33774007 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs532291897 | chr16:33774046-33774047 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs201262271 | chr16:33774981-33774982 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs561300849 | chr16:33775535-33775536 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
19 | rs186003612 | chr16:33775668-33775669 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs140141409 | chr16:33775689-33775690 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs112810909 | chr16:33775705-33775706 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs547142553 | chr16:33775711-33775712 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs571753228 | chr16:33775717-33775718 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs532796546 | chr16:33775721-33775722 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs563659230 | chr16:33775780-33775781 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs138319629 | chr16:33775828-33775829 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
27 | rs551193887 | chr16:33775868-33775869 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
28 | rs569454140 | chr16:33775891-33775892 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
29 | rs536910778 | chr16:33775901-33775902 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
30 | rs201238756 | chr16:33775931-33775932 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
31 | rs566438695 | chr16:33775988-33775989 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
32 | rs533533693 | chr16:33776088-33776089 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
33 | rs381097 | chr16:33776093-33776094 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
34 | rs369423794 | chr16:33776125-33776126 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
35 | rs558267041 | chr16:33776163-33776164 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs200462161 | chr16:33776205-33776206 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
37 | rs576525015 | chr16:33776221-33776222 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
38 | rs537651964 | chr16:33776428-33776429 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
39 | rs555897262 | chr16:33776448-33776449 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
40 | rs574657292 | chr16:33776534-33776535 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
41 | rs189793013 | chr16:33776864-33776865 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs560165485 | chr16:33778670-33778671 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs573222040 | chr16:33778689-33778690 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs540621157 | chr16:33778698-33778699 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs201251085 | chr16:33778710-33778711 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs181307183 | chr16:33778714-33778715 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs565427080 | chr16:33778725-33778726 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs532605097 | chr16:33778731-33778732 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs551205938 | chr16:33778739-33778740 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs563064386 | chr16:33778787-33778788 | Inactive region | TF binding regionlncRNA | 1 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 |
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 |
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 |
Wilms tumour | 21544195 | CNVD |
Cancer | 20164920 | CNVD |
Schizophrenia | 20967226 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Non-syndromic sensorineural hearing loss | 22297974 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21509527 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Glioma | 20126413 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr16:33784400-33784800 | Active TSS | IMR90 fetal lung fibroblasts Cell Line | lung |
2 | chr16:33784400-33784800 | Active TSS | HSMM | muscle |
3 | chr16:33794600-33795000 | Enhancers | Skeletal Muscle Female | skeletal muscle |
4 | chr16:33794600-33795600 | Enhancers | Skeletal Muscle Male | skeletal muscle |
5 | chr16:33795000-33795600 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
6 | chr16:33795600-33797400 | Active TSS | Skeletal Muscle Female | skeletal muscle |
7 | chr16:33795600-33798000 | Active TSS | Skeletal Muscle Male | skeletal muscle |
8 | chr16:33797400-33798000 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
9 | chr16:33798000-33798200 | Flanking Active TSS | Skeletal Muscle Male | skeletal muscle |
10 | chr16:33798000-33798400 | Enhancers | Skeletal Muscle Female | skeletal muscle |
11 | chr16:33803800-33804600 | Enhancers | Skeletal Muscle Male | skeletal muscle |
12 | chr16:33804400-33804800 | Enhancers | Left Ventricle | heart |
13 | chr16:33817000-33817200 | Bivalent/Poised TSS | Duodenum Smooth Muscle | Duodenum |
14 | chr16:33817000-33817400 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
15 | chr16:33817000-33818000 | Bivalent Enhancer | Placenta | Placenta |
16 | chr16:33817600-33817800 | Bivalent/Poised TSS | Duodenum Smooth Muscle | Duodenum |
17 | chr16:33836400-33836800 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
18 | chr16:33852200-33852400 | Active TSS | Brain Hippocampus Middle | brain |
19 | chr16:33852400-33852600 | Bivalent/Poised TSS | Brain Hippocampus Middle | brain |
20 | chr16:33852600-33853400 | Flanking Bivalent TSS/Enh | Placenta | Placenta |
21 | chr16:33852800-33854000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
22 | chr16:33853000-33853600 | Bivalent/Poised TSS | Duodenum Smooth Muscle | Duodenum |
23 | chr16:33853400-33853600 | Bivalent Enhancer | Placenta | Placenta |
24 | chr16:33853400-33854000 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin02 | Skin |
25 | chr16:33853400-33854000 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |