Variant report
Variant | nsv442396 |
---|---|
Chromosome Location | chr16:35021918-35059328 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:127)
- CpG islands (count:427)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPB | chr16:35044480-35044659 | IMR90 | lung: | n/a | n/a |
2 | CEBPB | chr16:35047511-35047736 | HepG2 | liver: | n/a | chr16:35047601-35047612 |
3 | CEBPB | chr16:35044569-35044729 | K562 | blood: | n/a | n/a |
4 | CEBPB | chr16:35047591-35047687 | A549 | lung: | n/a | chr16:35047601-35047612 |
5 | CEBPB | chr16:35044630-35044830 | HepG2 | liver: | n/a | chr16:35044752-35044763 |
6 | CTCF | chr16:35043960-35044110 | HCT-116 | colon: | n/a | n/a |
7 | CTCF | chr16:35043560-35043710 | HEK293 | kidney: | n/a | n/a |
8 | CTCF | chr16:35043520-35043670 | HepG2 | liver: | n/a | n/a |
9 | CTCF | chr16:35043176-35043209 | LNCaP | prostate: | n/a | n/a |
10 | CTCF | chr16:35043540-35043690 | GM12873 | blood: | n/a | n/a |
11 | CTCF | chr16:35043460-35043610 | HEK293 | kidney: | n/a | n/a |
12 | CTCF | chr16:35043500-35043650 | NB4 | blood: | n/a | n/a |
13 | CTCF | chr16:35043560-35043710 | SK-N-SH_RA | brain: | n/a | n/a |
14 | CTCF | chr16:35043520-35043670 | GM12873 | blood: | n/a | n/a |
15 | CTCF | chr16:35043420-35043570 | RPTEC | kidney: | n/a | n/a |
16 | CTCF | chr16:35043602-35043629 | Gliobla | brain: | n/a | n/a |
17 | CTCF | chr16:35038644-35038686 | Spleen_OC | spleen: | n/a | n/a |
18 | CTCF | chr16:35043460-35043610 | BE2_C | brain: | n/a | n/a |
19 | CTCF | chr16:35038916-35039001 | Pancreas_OC | pancreas: | n/a | n/a |
20 | CTCF | chr16:35043520-35043670 | HCT-116 | colon: | n/a | n/a |
21 | CTCF | chr16:35043580-35043730 | NHEK | skin: | n/a | n/a |
22 | CTCF | chr16:35043540-35043690 | NHEK | skin: | n/a | n/a |
23 | CTCF | chr16:35043480-35043630 | GM12869 | blood: | n/a | n/a |
24 | CTCF | chr16:35043555-35043692 | NHEK | skin: | n/a | n/a |
25 | CTCF | chr16:35038420-35038454 | GM10248 | blood: | n/a | n/a |
26 | CTCF | chr16:35043480-35043630 | HCT-116 | colon: | n/a | n/a |
27 | CTCF | chr16:35043542-35043593 | LNCaP | prostate: | n/a | n/a |
28 | CTCF | chr16:35043560-35043710 | WERI-Rb-1 | eye: | n/a | n/a |
29 | CTCF | chr16:35041106-35041151 | GM10266 | blood: | n/a | n/a |
30 | CTCF | chr16:35043520-35043670 | K562 | blood: | n/a | n/a |
31 | CTCF | chr16:35043520-35043670 | WERI-Rb-1 | eye: | n/a | n/a |
32 | CTCF | chr16:35043500-35043650 | HL-60 | blood: | n/a | n/a |
33 | CTCF | chr16:35043520-35043670 | HFF-Myc | foreskin: | n/a | n/a |
34 | CTCF | chr16:35043500-35043650 | RPTEC | kidney: | n/a | n/a |
35 | CTCF | chr16:35043592-35043620 | LNCaP | prostate: | n/a | n/a |
36 | CTCF | chr16:35043552-35043630 | HepG2 | liver: | n/a | n/a |
37 | CTCF | chr16:35043540-35043690 | BE2_C | brain: | n/a | n/a |
38 | CTCF | chr16:35043520-35043670 | SK-N-SH_RA | brain: | n/a | n/a |
39 | CTCF | chr16:35043840-35043990 | HCT-116 | colon: | n/a | n/a |
40 | CTCF | chr16:35043631-35043636 | HepG2 | liver: | n/a | n/a |
41 | E2F4 | chr16:35056814-35056893 | MCF10A-Er-Src | breast: | n/a | n/a |
42 | EBF1 | chr16:35039010-35039215 | GM12878 | blood: | n/a | n/a |
43 | EP300 | chr16:35033163-35033720 | ECC-1 | luminal epithelium: | n/a | n/a |
44 | EP300 | chr16:35033183-35033854 | ECC-1 | luminal epithelium: | n/a | n/a |
45 | FOSL1 | chr16:35043033-35043764 | HCT-116 | colon: | n/a | chr16:35043359-35043367 chr16:35043360-35043367 chr16:35043358-35043368 chr16:35043358-35043368 chr16:35043359-35043367 chr16:35043343-35043353 chr16:35043343-35043353 chr16:35043355-35043366 chr16:35043343-35043353 chr16:35043494-35043503 |
46 | FOSL1 | chr16:35043236-35043673 | HCT-116 | colon: | n/a | chr16:35043359-35043367 chr16:35043360-35043367 chr16:35043358-35043368 chr16:35043358-35043368 chr16:35043359-35043367 chr16:35043343-35043353 chr16:35043343-35043353 chr16:35043355-35043366 chr16:35043343-35043353 chr16:35043494-35043503 |
47 | FOXA1 | chr16:35032183-35032415 | ECC-1 | luminal epithelium: | n/a | n/a |
48 | FOXA1 | chr16:35032147-35032493 | T-47D | breast: | n/a | n/a |
49 | FOXA1 | chr16:35032164-35032530 | HepG2 | liver: | n/a | n/a |
50 | FOXA1 | chr16:35032168-35032519 | HepG2 | liver: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr16:35030232-35030282 | Caco-2 | colon: | n/a |
2 | chr16:35027026-35027076 | HRE | kidney: | n/a |
3 | chr16:35029997-35030047 | HRE | kidney: | n/a |
4 | chr16:35026985-35027035 | PrEC | prostate: | n/a |
5 | chr16:35027418-35027468 | AG09309 | skin: | n/a |
6 | chr16:35037569-35037619 | AG09319 | gingival: | n/a |
7 | chr16:35029997-35030047 | HCF | heart: | n/a |
8 | chr16:35027418-35027468 | Jurkat | blood: | n/a |
9 | chr16:35026985-35027035 | HEEpiC | esophagus: | n/a |
10 | chr16:35026985-35027035 | NHBE | bronchial: | n/a |
11 | chr16:35030232-35030282 | Jurkat | blood: | n/a |
12 | chr16:35029890-35029940 | GM12892 | blood: | n/a |
13 | chr16:35029997-35030047 | T-47D | breast: | n/a |
14 | chr16:35037569-35037619 | ovcar-3 | ovarian: | n/a |
15 | chr16:35037569-35037619 | HAEpiC | amniotic membrane: | n/a |
16 | chr16:35026985-35027035 | HL-60 | blood: | n/a |
17 | chr16:35029997-35030047 | HRPEpiC | eye: | n/a |
18 | chr16:35029890-35029940 | NT2-D1 | testis: | n/a |
19 | chr16:35026985-35027035 | NH-A | brain: | n/a |
20 | chr16:35027418-35027468 | PANC-1 | pancreas: | n/a |
21 | chr16:35029997-35030047 | AG04449 | skin: | fetal |
22 | chr16:35030232-35030282 | NH-A | brain: | n/a |
23 | chr16:35026985-35027035 | Caco-2 | colon: | n/a |
24 | chr16:35029997-35030047 | A549 | lung: | n/a |
25 | chr16:35027026-35027076 | PANC-1 | pancreas: | n/a |
26 | chr16:35027026-35027076 | K562 | blood: | n/a |
27 | chr16:35027418-35027468 | HPAEpiC | pulmonary alveolar: | n/a |
28 | chr16:35029890-35029940 | HIPEpiC | eye: | n/a |
29 | chr16:35027026-35027076 | NHDF-neo | bronchial: | n/a |
30 | chr16:35026985-35027035 | Hela-S3 | cervix: | n/a |
31 | chr16:35029997-35030047 | HUVEC | blood vessel: | n/a |
32 | chr16:35026985-35027035 | HRE | kidney: | n/a |
33 | chr16:35027026-35027076 | HL-60 | blood: | n/a |
34 | chr16:35027026-35027076 | IMR90 | lung: | fetal |
35 | chr16:35027026-35027076 | ovcar-3 | ovarian: | n/a |
36 | chr16:35029890-35029940 | HMEC | breast: | n/a |
37 | chr16:35030232-35030282 | U87 | brain: | n/a |
38 | chr16:35030232-35030282 | SK-N-SH | brain: | n/a |
39 | chr16:35029997-35030047 | SAEC | small airway: | n/a |
40 | chr16:35030232-35030282 | HMEC | breast: | n/a |
41 | chr16:35026985-35027035 | LNCaP | prostate: | n/a |
42 | chr16:35026985-35027035 | Hepatocyte | liver: | n/a |
43 | chr16:35029997-35030047 | SK-N-SH | brain: | n/a |
44 | chr16:35029890-35029940 | MCF-7 | breast: | n/a |
45 | chr16:35026985-35027035 | SK-N-MC | brain: | n/a |
46 | chr16:35027418-35027468 | ProgFib | skin: | n/a |
47 | chr16:35030232-35030282 | GM19239 | blood: | n/a |
48 | chr16:35026985-35027035 | HCT-116 | colon: | n/a |
49 | chr16:35026985-35027035 | AG04449 | skin: | fetal |
50 | chr16:35030232-35030282 | LNCaP | prostate: | n/a |
No data |
(count:1 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-LINC00273-31 | chr16:35036459-35037041 | NONHSAT142244 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000260611 | TF binding region |
HMGN2P41 | TF binding region |
ENSG00000260611 | CpG island |
HMGN2P41 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs188189391 | chr16:35021929-35021930 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs537456221 | chr16:35021971-35021972 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs549417809 | chr16:35021979-35021980 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs181416287 | chr16:35022004-35022005 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs550642359 | chr16:35022012-35022013 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs536432647 | chr16:35022013-35022014 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs555178957 | chr16:35022026-35022027 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs140143191 | chr16:35022032-35022033 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs534476883 | chr16:35022034-35022035 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs559308201 | chr16:35022045-35022046 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs7187499 | chr16:35022054-35022055 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs544622194 | chr16:35022069-35022070 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs142024748 | chr16:35022072-35022073 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs375144211 | chr16:35022121-35022122 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs146344699 | chr16:35022160-35022161 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs368225166 | chr16:35022168-35022169 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs552117331 | chr16:35022179-35022180 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs560326757 | chr16:35022183-35022184 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs139251331 | chr16:35022194-35022195 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs185749866 | chr16:35022199-35022200 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs76974898 | chr16:35022296-35022297 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs371934744 | chr16:35022314-35022315 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
23 | rs201117107 | chr16:35022327-35022328 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs190064765 | chr16:35022384-35022385 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs567797186 | chr16:35022417-35022418 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs567025364 | chr16:35022428-35022429 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs534130689 | chr16:35022429-35022430 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs373939313 | chr16:35022442-35022443 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs35356881 | chr16:35022470-35022471 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs145599875 | chr16:35022500-35022501 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs377687078 | chr16:35022501-35022502 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs114948088 | chr16:35022575-35022576 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs567196014 | chr16:35022593-35022594 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs534138843 | chr16:35022612-35022613 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs559249404 | chr16:35022627-35022628 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs34535890 | chr16:35022642-35022643 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs571210093 | chr16:35022661-35022662 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs538234102 | chr16:35022662-35022663 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs148487895 | chr16:35022665-35022666 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs537848553 | chr16:35022687-35022688 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs574819219 | chr16:35022700-35022701 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs371751742 | chr16:35022707-35022708 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs556168734 | chr16:35022714-35022715 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs553992726 | chr16:35022737-35022738 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs572157745 | chr16:35022754-35022755 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs145312024 | chr16:35022771-35022772 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs527957040 | chr16:35022789-35022790 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs545659986 | chr16:35022796-35022797 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs147610988 | chr16:35022819-35022820 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs531532784 | chr16:35022820-35022821 | ZNF genes & repeats | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
Breast cancer | 21858162 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Breast cancer | 21785460 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Benign familial neonatal-infantile seizures | 21060786 | CNVD |
Low-grade fibromyxoid sarcoma | 0 | CNVD |
Cancer | 21183584 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Low-grade fibromyxoid sarcoma | 21536545 | CNVD |
Breast cancer | 21045282 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Wilms tumour | 21544195 | CNVD |
Cancer | 20164920 | CNVD |
Breast cancer | 21364760 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Lung cancer | 18438408 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21509527 | CNVD |
Schizophrenia | 23813976 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Prostate cancer | 18632612 | CNVD |
Autism | 18414403 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Medulloblastoma | 21163964 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr16:35021400-35025800 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
2 | chr16:35022000-35023600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr16:35025200-35026200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
4 | chr16:35025600-35026400 | Enhancers | NHEK | skin |
5 | chr16:35026400-35026600 | ZNF genes & repeats | Fetal Brain Female | brain |
6 | chr16:35029000-35029600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
7 | chr16:35029600-35030400 | ZNF genes & repeats | Placenta | Placenta |
8 | chr16:35029800-35030000 | Enhancers | Stomach Mucosa | stomach |
9 | chr16:35029800-35030200 | ZNF genes & repeats | Lung | lung |
10 | chr16:35030200-35030400 | ZNF genes & repeats | Gastric | stomach |
11 | chr16:35030400-35031600 | Weak transcription | Gastric | stomach |
12 | chr16:35031600-35031800 | Enhancers | Gastric | stomach |
13 | chr16:35032000-35033000 | Enhancers | Stomach Mucosa | stomach |
14 | chr16:35033200-35033600 | Enhancers | Dnd41 | blood |
15 | chr16:35033400-35033600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
16 | chr16:35033600-35035800 | Weak transcription | Dnd41 | blood |
17 | chr16:35033800-35034200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
18 | chr16:35035800-35036200 | ZNF genes & repeats | Dnd41 | blood |
19 | chr16:35036200-35039200 | Weak transcription | Dnd41 | blood |
20 | chr16:35037000-35037400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
21 | chr16:35039200-35039400 | Enhancers | Dnd41 | blood |
22 | chr16:35044600-35044800 | ZNF genes & repeats | Fetal Brain Female | brain |
23 | chr16:35045000-35046800 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |