Variant report
Variant | nsv1060784 |
---|---|
Chromosome Location | chr19:43294378-43786678 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:6727)
- CpG islands (count:3364)
- Chromatin interactive region (count:7)
- LncRNA region (count:77)
- 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 | ATF1 | chr19:43733581-43733686 | K562 | blood: | n/a | n/a |
2 | ATF1 | chr19:43779068-43779071 | K562 | blood: | n/a | n/a |
3 | ATF3 | chr19:43335349-43336094 | A549 | lung: | n/a | n/a |
4 | ATF3 | chr19:43336349-43336838 | A549 | lung: | n/a | n/a |
5 | ATF3 | chr19:43355048-43355947 | A549 | lung: | n/a | n/a |
6 | ATF3 | chr19:43336336-43336928 | A549 | lung: | n/a | n/a |
7 | ATF3 | chr19:43355412-43355889 | A549 | lung: | n/a | n/a |
8 | ATF3 | chr19:43686016-43686763 | A549 | lung: | n/a | n/a |
9 | ATF3 | chr19:43335307-43336092 | A549 | lung: | n/a | n/a |
10 | BATF | chr19:43613006-43613315 | GM12878 | blood: | n/a | chr19:43613110-43613121 |
11 | BATF | chr19:43738081-43738296 | GM12878 | blood: | n/a | chr19:43738185-43738196 |
12 | BATF | chr19:43552186-43552537 | GM12878 | blood: | n/a | chr19:43552319-43552330 |
13 | BATF | chr19:43711409-43711658 | GM12878 | blood: | n/a | n/a |
14 | BATF | chr19:43692257-43692526 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr19:43361555-43361754 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr19:43591924-43592150 | GM12878 | blood: | n/a | n/a |
17 | BATF | chr19:43442962-43443231 | GM12878 | blood: | n/a | n/a |
18 | BATF | chr19:43692397-43692675 | GM12878 | blood: | n/a | n/a |
19 | BATF | chr19:43775309-43775522 | GM12878 | blood: | n/a | n/a |
20 | BATF | chr19:43552261-43552460 | GM12878 | blood: | n/a | chr19:43552319-43552330 |
21 | BATF | chr19:43302238-43302533 | GM12878 | blood: | n/a | chr19:43302344-43302355 |
22 | BATF | chr19:43588401-43588710 | GM12878 | blood: | n/a | n/a |
23 | BCL3 | chr19:43335292-43335990 | A549 | lung: | n/a | chr19:43335602-43335611 chr19:43335603-43335612 |
24 | BCL3 | chr19:43402518-43403428 | A549 | lung: | n/a | n/a |
25 | BCL3 | chr19:43336972-43337663 | A549 | lung: | n/a | n/a |
26 | BCL3 | chr19:43323095-43323355 | GM12878 | blood: | n/a | n/a |
27 | BCL3 | chr19:43354910-43356058 | A549 | lung: | n/a | n/a |
28 | BCL3 | chr19:43335242-43336126 | A549 | lung: | n/a | chr19:43335602-43335611 chr19:43335603-43335612 |
29 | BCL3 | chr19:43336159-43337656 | A549 | lung: | n/a | chr19:43336227-43336234 |
30 | BCL3 | chr19:43297507-43298116 | A549 | lung: | n/a | n/a |
31 | BCL3 | chr19:43336292-43336877 | A549 | lung: | n/a | n/a |
32 | BCL3 | chr19:43354946-43356043 | A549 | lung: | n/a | n/a |
33 | BHLHE40 | chr19:43709323-43709343 | K562 | blood: | n/a | n/a |
34 | BHLHE40 | chr19:43355572-43355890 | A549 | lung: | n/a | n/a |
35 | BHLHE40 | chr19:43385480-43385517 | K562 | blood: | n/a | n/a |
36 | BHLHE40 | chr19:43733601-43733620 | K562 | blood: | n/a | n/a |
37 | BHLHE40 | chr19:43582147-43582203 | K562 | blood: | n/a | n/a |
38 | BHLHE40 | chr19:43427453-43427512 | GM12878 | blood: | n/a | n/a |
39 | BRCA1 | chr19:43525934-43526309 | Hela-S3 | cervix: | n/a | n/a |
40 | BRCA1 | chr19:43297623-43297950 | Hela-S3 | cervix: | n/a | n/a |
41 | BRCA1 | chr19:43624776-43624937 | Hela-S3 | cervix: | n/a | n/a |
42 | BRCA1 | chr19:43436723-43436914 | Hela-S3 | cervix: | n/a | n/a |
43 | BRCA1 | chr19:43769426-43769782 | Hela-S3 | cervix: | n/a | n/a |
44 | BRCA1 | chr19:43355288-43355847 | Hela-S3 | cervix: | n/a | n/a |
45 | CBX3 | chr19:43385505-43385738 | K562 | blood: | n/a | n/a |
46 | CBX3 | chr19:43385431-43385838 | K562 | blood: | n/a | n/a |
47 | CBX3 | chr19:43775276-43775644 | K562 | blood: | n/a | n/a |
48 | CBX3 | chr19:43775261-43775711 | HCT-116 | colon: | n/a | n/a |
49 | CEBPB | chr19:43393825-43394224 | Hela-S3 | cervix: | n/a | n/a |
50 | CEBPB | chr19:43496316-43496617 | A549 | lung: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr19:43774893-43774943 | PFSK-1 | brain: | n/a |
2 | chr19:43769725-43769775 | HepG2 | liver: | n/a |
3 | chr19:43385100-43385150 | LNCaP | prostate: | n/a |
4 | chr19:43711064-43711114 | HRCEpiC | kidney: | n/a |
5 | chr19:43423265-43423315 | AoSMC | blood vessel: | n/a |
6 | chr19:43423176-43423226 | AG04449 | skin: | fetal |
7 | chr19:43528994-43529044 | HL-60 | blood: | n/a |
8 | chr19:43711249-43711299 | PFSK-1 | brain: | n/a |
9 | chr19:43421584-43421634 | SK-N-MC | brain: | n/a |
10 | chr19:43774893-43774943 | PFSK-1 | brain: | n/a |
11 | chr19:43769725-43769775 | HepG2 | liver: | n/a |
12 | chr19:43385100-43385150 | LNCaP | prostate: | n/a |
13 | chr19:43711064-43711114 | HRCEpiC | kidney: | n/a |
14 | chr19:43423265-43423315 | AoSMC | blood vessel: | n/a |
15 | chr19:43423176-43423226 | AG04449 | skin: | fetal |
16 | chr19:43528994-43529044 | HL-60 | blood: | n/a |
17 | chr19:43711249-43711299 | PFSK-1 | brain: | n/a |
18 | chr19:43421584-43421634 | SK-N-MC | brain: | n/a |
19 | chr19:43355659-43355709 | Hepatocyte | liver: | n/a |
20 | chr19:43697480-43697530 | HCM | heart: | n/a |
21 | chr19:43355659-43355709 | SK-N-SH_RA | brain: | n/a |
22 | chr19:43423176-43423226 | AG09319 | gingival: | n/a |
23 | chr19:43774820-43774870 | HCT-116 | colon: | n/a |
24 | chr19:43588025-43588075 | HEK293 | kidney: | embryo |
25 | chr19:43691878-43691928 | LNCaP | prostate: | n/a |
26 | chr19:43528994-43529044 | ProgFib | skin: | n/a |
27 | chr19:43530623-43530673 | MCF10A-Er-Src | breast: | n/a |
28 | chr19:43580600-43580650 | HEEpiC | esophagus: | n/a |
29 | chr19:43774921-43774971 | Hepatocyte | liver: | n/a |
30 | chr19:43690996-43691046 | ProgFib | skin: | n/a |
31 | chr19:43423176-43423226 | HIPEpiC | eye: | n/a |
32 | chr19:43709360-43709410 | GM06990 | blood: | n/a |
33 | chr19:43531821-43531871 | BE2_C | brain: | n/a |
34 | chr19:43711249-43711299 | HL-60 | blood: | n/a |
35 | chr19:43709832-43709882 | GM12892 | blood: | n/a |
36 | chr19:43691878-43691928 | SK-N-MC | brain: | n/a |
37 | chr19:43360755-43360805 | BE2_C | brain: | n/a |
38 | chr19:43385100-43385150 | AG10803 | skin: | n/a |
39 | chr19:43697480-43697530 | NHBE | bronchial: | n/a |
40 | chr19:43569592-43569642 | AG09309 | skin: | n/a |
41 | chr19:43769725-43769775 | MCF-7 | breast: | n/a |
42 | chr19:43361218-43361268 | HNPCEpiC | eye: | n/a |
43 | chr19:43442484-43442534 | HL-60 | blood: | n/a |
44 | chr19:43709360-43709410 | MCF10A-Er-Src | breast: | n/a |
45 | chr19:43588025-43588075 | HL-60 | blood: | n/a |
46 | chr19:43530536-43530586 | NHDF-neo | bronchial: | n/a |
47 | chr19:43410455-43410505 | AG04449 | skin: | fetal |
48 | chr19:43383799-43383849 | H1-hESC | embryonic stem cell: | embryo |
49 | chr19:43423119-43423169 | NB4 | blood: | n/a |
50 | chr19:43359870-43359920 | GM12892 | blood: | n/a |
(count:7 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr19:43523469..43524084-chr19:43531918..43532440,2 | MCF-7 | breast: | |
2 | chr19:43678340..43681333-chr19:43698109..43700078,2 | MCF-7 | breast: | |
3 | chr19:43523469..43524084-chr19:43531918..43532440,2 | MCF-7 | breast: | |
4 | chr19:43531581..43532101-chr2:1136088..1136613,2 | MCF-7 | breast: | |
5 | chr19:43608137..43608719-chr19:43820621..43821519,2 | MCF-7 | breast: | |
6 | chr19:43265768..43266290-chr19:43769932..43770473,2 | MCF-7 | breast: | |
7 | chr19:43297087..43297875-chr19:43423005..43423976,2 | MCF-7 | breast: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-PSG4-3 | chr19:43674207-43674723 | NONHSAT066585 |
2 | lnc-PSG9-2 | chr19:43715943-43716627 | NONHSAT066592 |
3 | lnc-PSG6-1 | chr19:43428284-43428976 | NR_073194 |
4 | lnc-PSG1-1 | chr19:43343447-43343530 | NONHSAT066571 |
5 | lnc-PSG9-2 | chr19:43734076-43734177 | NONHSAT066591 |
6 | lnc-PSG6-1 | chr19:43441165-43441330 | NONHSAT066574 |
7 | lnc-PSG6-1 | chr19:43440309-43440647 | NONHSAT066574 |
8 | lnc-PSG9-2 | chr19:43719405-43719531 | NONHSAT066591 |
9 | lnc-PSG9-2 | chr19:43763009-43764898 | NONHSAT066592 |
10 | lnc-PSG2-5 | chr19:43514422-43514579 | NONHSAT066577 |
11 | lnc-PSG1-1 | chr19:43359708-43359870 | NONHSAT066571 |
12 | lnc-PSG11-1 | chr19:43544526-43544780 | NONHSAT066579 |
13 | lnc-PSG4-3 | chr19:43671924-43672287 | NONHSAT066585 |
14 | lnc-PSG9-2 | chr19:43715943-43716627 | NONHSAT066591 |
15 | lnc-PSG6-2 | chr19:43454299-43454539 | NONHSAT066575 |
16 | lnc-PSG1-1 | chr19:43349168-43349446 | NONHSAT146988 |
17 | lnc-PSG9-2 | chr19:43724140-43724394 | NONHSAT066593 |
18 | lnc-PSG2-1 | chr19:43586658-43586820 | NONHSAT066581 |
19 | lnc-PSG1-1 | chr19:43359708-43359870 | NONHSAT146988 |
20 | lnc-PSG1-1 | chr19:43349168-43349446 | NONHSAT066571 |
21 | lnc-CD177-1 | chr19:43657665-43657763 | ENSG00000227606.1 |
22 | lnc-PSG6-1 | chr19:43430590-43430868 | NR_073194 |
23 | lnc-PSG11-1 | chr19:43545168-43545400 | NONHSAT066579 |
24 | lnc-PSG2-5 | chr19:43511982-43512194 | NONHSAT066576 |
25 | lnc-PSG2-1 | chr19:43585939-43586423 | NONHSAT066581 |
26 | lnc-PSG1-1 | chr19:43343520-43343530 | NONHSAT146988 |
27 | lnc-PSG1-1 | chr19:43358101-43358466 | NONHSAT066571 |
28 | lnc-PSG9-2 | chr19:43728324-43728464 | NONHSAT066591 |
29 | lnc-PSG2-5 | chr19:43519268-43519426 | NONHSAT066577 |
30 | lnc-PSG2-5 | chr19:43514110-43514858 | NONHSAT066576 |
31 | lnc-CD177-1 | chr19:43659324-43659477 | ENSG00000227606.1 |
32 | lnc-PSG4-1 | chr19:43707241-43708403 | NONHSAT066590 |
33 | lnc-PSG11-1 | chr19:43540021-43540112 | NONHSAT066579 |
34 | lnc-PSG5-1 | chr19:43699147-43699301 | NONHSAT066589 |
35 | lnc-PSG2-3 | chr19:43601248-43601512 | NONHSAT066582 |
36 | lnc-CD177-1 | chr19:43665002-43665014 | ENSG00000227606.1 |
37 | lnc-PSG2-4 | chr19:43521383-43521753 | NONHSAT066578 |
38 | lnc-PSG4-1 | chr19:43710321-43711451 | NONHSAT066590 |
39 | lnc-PSG2-2 | chr19:43587104-43587197 | NONHSAT066580 |
40 | lnc-PSG5-1 | chr19:43698107-43698746 | NONHSAT066589 |
41 | lnc-PSG6-3 | chr19:43370618-43371302 | NONHSAT066572 |
42 | lnc-PSG1-1 | chr19:43348511-43348765 | NONHSAT066571 |
43 | lnc-PSG5-1 | chr19:43696890-43697540 | NONHSAT066588 |
44 | lnc-PSG1-1 | chr19:43343708-43343916 | NONHSAT066571 |
45 | lnc-PSG4-3 | chr19:43672274-43672355 | NONHSAT066586 |
46 | lnc-PSG2-4 | chr19:43522922-43523199 | NONHSAT066578 |
47 | lnc-PSG9-2 | chr19:43724783-43725023 | NONHSAT066593 |
48 | lnc-PSG4-2 | chr19:43688934-43689087 | NONHSAT066587 |
49 | lnc-CD177-1 | chr19:43658863-43659311 | ENSG00000227606.1 |
50 | lnc-PSG2-2 | chr19:43575923-43576106 | NONHSAT066580 |
No data |
No data |
Variant related genes | Relation type |
---|---|
CEACAMP7 | TF binding region |
CEACAMP9 | TF binding region |
PSG8 | TF binding region |
PSG5 | TF binding region |
PSG11 | TF binding region |
ENSG00000225877 | TF binding region |
PSG6 | TF binding region |
CEACAMP10 | TF binding region |
CEACAMP6 | TF binding region |
PSG9 | TF binding region |
PSG4 | TF binding region |
CEACAMP8 | TF binding region |
PSG1 | TF binding region |
PSG2 | TF binding region |
ENSG00000227606 | TF binding region |
PSG7 | TF binding region |
PSG10P | TF binding region |
CEACAMP7 | CpG island |
CEACAMP9 | CpG island |
PSG8 | CpG island |
PSG5 | CpG island |
PSG11 | CpG island |
ENSG00000225877 | CpG island |
PSG6 | CpG island |
CEACAMP10 | CpG island |
CEACAMP6 | CpG island |
PSG9 | CpG island |
PSG4 | CpG island |
CEACAMP8 | CpG island |
PSG1 | CpG island |
PSG2 | CpG island |
ENSG00000227606 | CpG island |
PSG7 | CpG island |
PSG10P | CpG island |
ENSG00000243137 | chromatin interactions |
ENSG00000170848 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs374212287 | chr19:43294773-43294774 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs181920003 | chr19:43295254-43295255 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs537192086 | chr19:43295255-43295256 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs550757074 | chr19:43295280-43295281 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs147623535 | chr19:43295283-43295284 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs186169610 | chr19:43295436-43295437 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs140495311 | chr19:43295439-43295440 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs573501448 | chr19:43295476-43295477 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs190494802 | chr19:43295491-43295492 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs554639371 | chr19:43295495-43295496 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs532340727 | chr19:43295504-43295505 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs574582988 | chr19:43295517-43295518 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs543496912 | chr19:43295531-43295532 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs563382734 | chr19:43295581-43295582 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs550341737 | chr19:43295616-43295617 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs546003789 | chr19:43295702-43295703 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs144352471 | chr19:43295710-43295711 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs528423578 | chr19:43295725-43295726 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs148315117 | chr19:43297021-43297022 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs544541799 | chr19:43297072-43297073 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs141424612 | chr19:43297080-43297081 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs575636778 | chr19:43297099-43297100 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs369090623 | chr19:43297102-43297103 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs540290710 | chr19:43297141-43297142 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs560614495 | chr19:43297161-43297162 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs192003908 | chr19:43297189-43297190 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs543236781 | chr19:43297259-43297260 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs563125888 | chr19:43297302-43297303 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs531948321 | chr19:43297303-43297304 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs552008038 | chr19:43297327-43297328 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs562086293 | chr19:43297344-43297345 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs565452583 | chr19:43297377-43297378 | ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs532911580 | chr19:43297416-43297417 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs374393979 | chr19:43297429-43297430 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs564353416 | chr19:43297459-43297460 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs182707384 | chr19:43297485-43297486 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs150817660 | chr19:43297564-43297565 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs535213437 | chr19:43297586-43297587 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs548762994 | chr19:43297607-43297608 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs377198938 | chr19:43297608-43297609 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs186978305 | chr19:43297633-43297634 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs143770961 | chr19:43297645-43297646 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs558003982 | chr19:43297647-43297648 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs35344424 | chr19:43297698-43297699 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs558051763 | chr19:43297706-43297707 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs577888803 | chr19:43297712-43297713 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs534184004 | chr19:43297713-43297714 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs192569981 | chr19:43297731-43297732 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs60989868 | chr19:43297754-43297755 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
50 | rs60039956 | chr19:43297756-43297757 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Myelodysplastic syndrome | 17634407 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Chordoma | 21602918 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Cancer | 20164919 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Prostate cancer | 18632612 | CNVD |
Autism | 22495311 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Congenital nephrotic syndrome | 18421352 | CNVD |
Astrocytoma | 17934521 | CNVD |
Leukemia | 17361228 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Breast cancer | 21858162 | CNVD |
Breast cancer | 17603634 | CNVD |
Glioma | 21971842 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
renal disease | 20603712 | CNVD |
Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
Breast cancer | 16608533 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Breast cancer | 21364760 | CNVD |
Invasive pancreatic ductal carcinoma | 18765526 | CNVD |
Rhabdomyosarcoma | 16790082 | CNVD |
Chordoma | 18071362 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Wilms tumour | 21544195 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Bladder cancer | 21909424 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Gastric cancer | 18160780 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Basal cell lymphoma | 19029149 | CNVD |
Breast cancer | 20409316 | CNVD |
Diffuse large b-cell lymphoma | 19029149 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Lung cancer | 18438408 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Astrocytoma | 22246337 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Breast cancer | 22522925 | CNVD |
Breast cancer | 21509527 | CNVD |
Cancer | 20164920 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Ependymoma | 20639864 | CNVD |
Autism | 19492091 | CNVD |
Ovarian cancer | 20800559 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 16272173 | CNVD |
Spondylocostal dysostosis | 21085971 | CNVD |
Nicotine metabolism | 21956041 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Breast cancer | 17133270 | CNVD |
Colorectal cancer | 20459617 | CNVD |
Lung adenocarcinoma | 21935476 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Melanoma | 20877625 | CNVD |
Ovarian cancer | 21240255 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Primary Severe Spermatogenic Failure | 20378930 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:43297000-43299400 | ZNF genes & repeats | A549 | lung |
2 | chr19:43297200-43297400 | ZNF genes & repeats | NHDF-Ad | bronchial |
3 | chr19:43297200-43297400 | ZNF genes & repeats | NHLF | lung |
4 | chr19:43297400-43297800 | Weak transcription | NHDF-Ad | bronchial |
5 | chr19:43297400-43298000 | Enhancers | Rectal Smooth Muscle | rectum |
6 | chr19:43297400-43298400 | Weak transcription | NHLF | lung |
7 | chr19:43297600-43297800 | Enhancers | HSMMtube | muscle |
8 | chr19:43297800-43298000 | Active TSS | Brain Hippocampus Middle | brain |
9 | chr19:43297800-43298200 | Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
10 | chr19:43297800-43298200 | Active TSS | HSMMtube | muscle |
11 | chr19:43297800-43298400 | Enhancers | HMEC | breast |
12 | chr19:43297800-43298800 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
13 | chr19:43297800-43299400 | Enhancers | Muscle Satellite Cultured Cells | -- |
14 | chr19:43297800-43299400 | Enhancers | HSMM | muscle |
15 | chr19:43297800-43299400 | Enhancers | NHDF-Ad | bronchial |
16 | chr19:43297800-43299400 | Enhancers | Osteobl | bone |
17 | chr19:43298000-43298200 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
18 | chr19:43298000-43298200 | Flanking Active TSS | Brain Hippocampus Middle | brain |
19 | chr19:43298000-43298800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
20 | chr19:43298200-43298600 | Enhancers | Brain Hippocampus Middle | brain |
21 | chr19:43298200-43298800 | Enhancers | HSMMtube | muscle |
22 | chr19:43298200-43299600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
23 | chr19:43298200-43303800 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
24 | chr19:43298400-43299400 | Enhancers | Foreskin Fibroblast Primary Cells skin02 | Skin |
25 | chr19:43298400-43299400 | Enhancers | NHLF | lung |
26 | chr19:43298400-43299600 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
27 | chr19:43299400-43303800 | Weak transcription | NHDF-Ad | bronchial |
28 | chr19:43299400-43303800 | Weak transcription | NHLF | lung |
29 | chr19:43301600-43303800 | Weak transcription | A549 | lung |
30 | chr19:43303800-43304200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
31 | chr19:43303800-43304200 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
32 | chr19:43303800-43304200 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
33 | chr19:43303800-43304200 | Enhancers | NHDF-Ad | bronchial |
34 | chr19:43303800-43304200 | Enhancers | NHLF | lung |
35 | chr19:43303800-43304600 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
36 | chr19:43303800-43304600 | Enhancers | A549 | lung |
37 | chr19:43303800-43304600 | Enhancers | NHEK | skin |
38 | chr19:43303800-43304800 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
39 | chr19:43317000-43317600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
40 | chr19:43317400-43317600 | Enhancers | Foreskin Fibroblast Primary Cells skin02 | Skin |
41 | chr19:43317600-43321400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
42 | chr19:43320600-43321200 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
43 | chr19:43321000-43321400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
44 | chr19:43321000-43321400 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
45 | chr19:43321000-43321400 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
46 | chr19:43321000-43321400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
47 | chr19:43321000-43321400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
48 | chr19:43321000-43321400 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
49 | chr19:43321000-43321400 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
50 | chr19:43321000-43321400 | Enhancers | Muscle Satellite Cultured Cells | -- |