Variant report
Variant | nsv579728 |
---|---|
Chromosome Location | chr19:43390362-43838753 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:5981)
- CpG islands (count:2687)
- Chromatin interactive region (count:19)
- LncRNA region (count:65)
- 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 | chr19:43686016-43686763 | A549 | lung: | n/a | n/a |
4 | BACH1 | chr19:43822401-43822627 | K562 | blood: | n/a | n/a |
5 | BACH1 | chr19:43820857-43821149 | H1-hESC | embryonic stem cell: | n/a | n/a |
6 | BACH1 | chr19:43822387-43822697 | H1-hESC | embryonic stem cell: | n/a | n/a |
7 | BATF | chr19:43798559-43798850 | GM12878 | blood: | n/a | chr19:43798663-43798674 |
8 | BATF | chr19:43818405-43818585 | GM12878 | blood: | n/a | n/a |
9 | BATF | chr19:43591924-43592150 | GM12878 | blood: | n/a | n/a |
10 | BATF | chr19:43442962-43443231 | GM12878 | blood: | n/a | n/a |
11 | BATF | chr19:43738081-43738296 | GM12878 | blood: | n/a | chr19:43738185-43738196 |
12 | BATF | chr19:43552261-43552460 | GM12878 | blood: | n/a | chr19:43552319-43552330 |
13 | BATF | chr19:43775309-43775522 | GM12878 | blood: | n/a | n/a |
14 | BATF | chr19:43711409-43711658 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr19:43692257-43692526 | GM12878 | blood: | n/a | n/a |
16 | BATF | chr19:43588401-43588710 | GM12878 | blood: | n/a | n/a |
17 | BATF | chr19:43692397-43692675 | GM12878 | blood: | n/a | n/a |
18 | BATF | chr19:43552186-43552537 | GM12878 | blood: | n/a | chr19:43552319-43552330 |
19 | BATF | chr19:43613006-43613315 | GM12878 | blood: | n/a | chr19:43613110-43613121 |
20 | BCL3 | chr19:43402518-43403428 | A549 | lung: | n/a | n/a |
21 | BHLHE40 | chr19:43709323-43709343 | K562 | blood: | n/a | n/a |
22 | BHLHE40 | chr19:43820640-43821187 | K562 | blood: | n/a | n/a |
23 | BHLHE40 | chr19:43427453-43427512 | GM12878 | blood: | n/a | n/a |
24 | BHLHE40 | chr19:43809984-43810194 | K562 | blood: | n/a | chr19:43810115-43810131 |
25 | BHLHE40 | chr19:43582147-43582203 | K562 | blood: | n/a | n/a |
26 | BHLHE40 | chr19:43733601-43733620 | K562 | blood: | n/a | n/a |
27 | BRCA1 | chr19:43809902-43809911 | HepG2 | liver: | n/a | n/a |
28 | BRCA1 | chr19:43819994-43820173 | H1-hESC | embryonic stem cell: | n/a | n/a |
29 | BRCA1 | chr19:43436723-43436914 | Hela-S3 | cervix: | n/a | n/a |
30 | BRCA1 | chr19:43624776-43624937 | Hela-S3 | cervix: | n/a | n/a |
31 | BRCA1 | chr19:43820772-43821192 | H1-hESC | embryonic stem cell: | n/a | n/a |
32 | BRCA1 | chr19:43525934-43526309 | Hela-S3 | cervix: | n/a | n/a |
33 | BRCA1 | chr19:43769426-43769782 | Hela-S3 | cervix: | n/a | n/a |
34 | CBX3 | chr19:43775261-43775711 | HCT-116 | colon: | n/a | n/a |
35 | CBX3 | chr19:43775276-43775644 | K562 | blood: | n/a | n/a |
36 | CEBPB | chr19:43562984-43563042 | A549 | lung: | n/a | n/a |
37 | CEBPB | chr19:43790251-43790803 | Hela-S3 | cervix: | n/a | n/a |
38 | CEBPB | chr19:43393825-43394224 | Hela-S3 | cervix: | n/a | n/a |
39 | CEBPB | chr19:43496426-43496699 | A549 | lung: | n/a | n/a |
40 | CEBPB | chr19:43830957-43831314 | Hela-S3 | cervix: | n/a | n/a |
41 | CEBPB | chr19:43517268-43517468 | HepG2 | liver: | n/a | chr19:43517348-43517359 |
42 | CEBPB | chr19:43656349-43656822 | Hela-S3 | cervix: | n/a | chr19:43656521-43656532 |
43 | CEBPB | chr19:43822954-43823273 | Hela-S3 | cervix: | n/a | n/a |
44 | CEBPB | chr19:43510075-43510341 | Hela-S3 | cervix: | n/a | chr19:43510191-43510202 |
45 | CEBPB | chr19:43786125-43786327 | Hela-S3 | cervix: | n/a | n/a |
46 | CEBPB | chr19:43582058-43582378 | Hela-S3 | cervix: | n/a | n/a |
47 | CEBPB | chr19:43768999-43769727 | IMR90 | lung: | n/a | n/a |
48 | CEBPB | chr19:43403099-43403104 | A549 | lung: | n/a | n/a |
49 | CEBPB | chr19:43834192-43834392 | HepG2 | liver: | n/a | n/a |
50 | CEBPB | chr19:43564423-43564649 | IMR90 | lung: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr19:43528994-43529044 | PrEC | prostate: | n/a |
2 | chr19:43442809-43442859 | PANC-1 | pancreas: | n/a |
3 | chr19:43683698-43683748 | GM19239 | blood: | n/a |
4 | chr19:43528994-43529044 | PrEC | prostate: | n/a |
5 | chr19:43442809-43442859 | PANC-1 | pancreas: | n/a |
6 | chr19:43683698-43683748 | GM19239 | blood: | n/a |
7 | chr19:43423265-43423315 | HMEC | breast: | n/a |
8 | chr19:43588069-43588119 | Caco-2 | colon: | n/a |
9 | chr19:43691878-43691928 | AG09319 | gingival: | n/a |
10 | chr19:43423115-43423165 | NT2-D1 | testis: | n/a |
11 | chr19:43690622-43690672 | GM12891 | blood: | n/a |
12 | chr19:43441294-43441344 | HRE | kidney: | n/a |
13 | chr19:43423115-43423165 | MCF-7 | breast: | n/a |
14 | chr19:43530623-43530673 | AG09319 | gingival: | n/a |
15 | chr19:43769725-43769775 | NHBE | bronchial: | n/a |
16 | chr19:43588055-43588105 | MCF-7 | breast: | n/a |
17 | chr19:43442804-43442854 | H1-hESC | embryonic stem cell: | embryo |
18 | chr19:43588025-43588075 | GM12892 | blood: | n/a |
19 | chr19:43709832-43709882 | T-47D | breast: | n/a |
20 | chr19:43423115-43423165 | ProgFib | skin: | n/a |
21 | chr19:43569592-43569642 | SKMC | muscle: | n/a |
22 | chr19:43531821-43531871 | AG10803 | skin: | n/a |
23 | chr19:43697480-43697530 | AG10803 | skin: | n/a |
24 | chr19:43774820-43774870 | HCPEpiC | choroid plexus: | n/a |
25 | chr19:43683698-43683748 | HRCEpiC | kidney: | n/a |
26 | chr19:43442809-43442859 | SKMC | muscle: | n/a |
27 | chr19:43441294-43441344 | MCF-7 | breast: | n/a |
28 | chr19:43697480-43697530 | HCM | heart: | n/a |
29 | chr19:43442804-43442854 | HCPEpiC | choroid plexus: | n/a |
30 | chr19:43690996-43691046 | ovcar-3 | ovarian: | n/a |
31 | chr19:43774921-43774971 | IMR90 | lung: | fetal |
32 | chr19:43531821-43531871 | SAEC | small airway: | n/a |
33 | chr19:43683698-43683748 | HUVEC | blood vessel: | n/a |
34 | chr19:43514144-43514194 | NB4 | blood: | n/a |
35 | chr19:43588069-43588119 | HCM | heart: | n/a |
36 | chr19:43423119-43423169 | NHBE | bronchial: | n/a |
37 | chr19:43423265-43423315 | Hepatocyte | liver: | n/a |
38 | chr19:43774982-43775032 | GM19239 | blood: | n/a |
39 | chr19:43691930-43691980 | Hepatocyte | liver: | n/a |
40 | chr19:43442693-43442743 | AG04449 | skin: | fetal |
41 | chr19:43569592-43569642 | RPTEC | kidney: | n/a |
42 | chr19:43530536-43530586 | CMK | blood: | n/a |
43 | chr19:43673501-43673551 | A549 | lung: | n/a |
44 | chr19:43588025-43588075 | HMEC | breast: | n/a |
45 | chr19:43690996-43691046 | AG10803 | skin: | n/a |
46 | chr19:43774921-43774971 | NH-A | brain: | n/a |
47 | chr19:43442804-43442854 | K562 | blood: | n/a |
48 | chr19:43690622-43690672 | GM12878 | blood: | n/a |
49 | chr19:43531770-43531820 | IMR90 | lung: | fetal |
50 | chr19:43421584-43421634 | RPTEC | kidney: | n/a |
(count:19 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr19:43820685..43821690-chr19:43929045..43930443,5 | MCF-7 | breast: | |
2 | chr19:43809493..43810365-chr19:43820777..43821441,3 | MCF-7 | breast: | |
3 | chr19:43801843..43804269-chr19:43806143..43807885,2 | MCF-7 | breast: | |
4 | chr19:43523469..43524084-chr19:43531918..43532440,2 | MCF-7 | breast: | |
5 | chr19:43821071..43821590-chr19:43929652..43930334,2 | MCF-7 | breast: | |
6 | chr19:43809519..43810435-chr19:43820572..43821543,3 | K562 | blood: | |
7 | chr19:43531581..43532101-chr2:1136088..1136613,2 | MCF-7 | breast: | |
8 | chr19:43608137..43608719-chr19:43820621..43821519,2 | MCF-7 | breast: | |
9 | chr19:43265768..43266290-chr19:43769932..43770473,2 | MCF-7 | breast: | |
10 | chr19:43678340..43681333-chr19:43698109..43700078,2 | MCF-7 | breast: | |
11 | chr19:43801843..43804269-chr19:43806143..43807885,2 | MCF-7 | breast: | |
12 | chr19:43523469..43524084-chr19:43531918..43532440,2 | MCF-7 | breast: | |
13 | chr19:43837425..43840449-chr19:43845958..43849291,3 | MCF-7 | breast: | |
14 | chr19:43608137..43608719-chr19:43820621..43821519,2 | MCF-7 | breast: | |
15 | chr19:43820533..43821452-chr19:44166758..44167329,2 | K562 | blood: | |
16 | chr19:43809519..43810435-chr19:43820572..43821543,3 | K562 | blood: | |
17 | chr19:43809493..43810365-chr19:43820777..43821441,3 | MCF-7 | breast: | |
18 | chr1:117602243..117602763-chr19:43822533..43823090,2 | Hela-S3 | cervix: | |
19 | chr19:43809862..43810443-chr19:43929397..43930009,2 | MCF-7 | breast: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-PSG9-2 | chr19:43762354-43762608 | NONHSAT066592 |
2 | lnc-PSG4-2 | chr19:43688934-43689087 | NONHSAT066587 |
3 | lnc-AC005392.1-2 | chr19:43835496-43835582 | ENSG00000231412.2 |
4 | lnc-PSG5-1 | chr19:43698492-43699038 | NONHSAT066588 |
5 | lnc-PSG6-1 | chr19:43433594-43433872 | NR_073194 |
6 | lnc-PSG9-2 | chr19:43734076-43734177 | NONHSAT066591 |
7 | lnc-PSG2-3 | chr19:43601248-43601512 | NONHSAT066582 |
8 | lnc-PSG9-2 | chr19:43724783-43725023 | NONHSAT066593 |
9 | lnc-CD177-1 | chr19:43657665-43657763 | ENSG00000227606.1 |
10 | lnc-PSG9-2 | chr19:43727043-43727110 | NONHSAT066591 |
11 | lnc-PSG9-2 | chr19:43724140-43724394 | NONHSAT066593 |
12 | lnc-AC005392.1-2 | chr19:43833447-43833660 | ENSG00000231412.2 |
13 | lnc-PSG6-1 | chr19:43429925-43431729 | NONHSAT066573 |
14 | lnc-PSG6-1 | chr19:43439556-43439921 | NR_073194 |
15 | lnc-PSG4-3 | chr19:43674207-43674717 | NONHSAT066586 |
16 | lnc-PSG2-2 | chr19:43587104-43587197 | NONHSAT066580 |
17 | lnc-PSG1-1 | chr19:43570669-43570753 | NONHSAT066570 |
18 | lnc-PSG9-2 | chr19:43719405-43719531 | NONHSAT066591 |
19 | lnc-PSG4-3 | chr19:43674207-43674723 | NONHSAT066585 |
20 | lnc-PSG6-1 | chr19:43441165-43441330 | NR_073194 |
21 | lnc-CD177-1 | chr19:43658863-43659311 | ENSG00000227606.1 |
22 | lnc-CD177-1 | chr19:43659324-43659477 | ENSG00000227606.1 |
23 | lnc-PSG9-2 | chr19:43752643-43752798 | NONHSAT066591 |
24 | lnc-CD177-3 | chr19:43831344-43831587 | expReg_chr19_6043_+ |
25 | lnc-PSG2-1 | chr19:43585939-43586423 | NONHSAT066581 |
26 | lnc-PSG6-1 | chr19:43428286-43428976 | NONHSAT066573 |
27 | lnc-PSG9-1 | chr19:43807323-43807688 | NONHSAT066594 |
28 | lnc-PSG6-1 | chr19:43441165-43441330 | NONHSAT066574 |
29 | lnc-PSG2-2 | chr19:43576503-43576781 | NONHSAT066580 |
30 | lnc-PSG11-1 | chr19:43544526-43544780 | NONHSAT066579 |
31 | lnc-PSG6-1 | chr19:43428284-43428976 | NR_073194 |
32 | lnc-PSG2-4 | chr19:43522922-43523199 | NONHSAT066578 |
33 | lnc-PSG9-2 | chr19:43763009-43764898 | NONHSAT066592 |
34 | lnc-PSG9-2 | chr19:43715943-43716627 | NONHSAT066592 |
35 | lnc-PSG11-1 | chr19:43540021-43540112 | NONHSAT066579 |
36 | lnc-CD177-1 | chr19:43657431-43657763 | ENSG00000227606.1 |
37 | lnc-PSG4-2 | chr19:43684499-43684748 | NONHSAT066587 |
38 | lnc-PSG2-1 | chr19:43586658-43586820 | NONHSAT066581 |
39 | lnc-PSG11-1 | chr19:43545168-43545400 | NONHSAT066579 |
40 | lnc-PSG5-1 | chr19:43698107-43698746 | NONHSAT066589 |
41 | lnc-PSG4-1 | chr19:43707241-43708403 | NONHSAT066590 |
42 | lnc-PSG9-2 | chr19:43752160-43752275 | NONHSAT066591 |
43 | lnc-PSG2-2 | chr19:43575923-43576106 | NONHSAT066580 |
44 | lnc-PSG2-5 | chr19:43514422-43514579 | NONHSAT066577 |
45 | lnc-PSG6-2 | chr19:43453655-43453909 | NONHSAT066575 |
46 | lnc-PSG2-5 | chr19:43514110-43514858 | NONHSAT066576 |
47 | lnc-PSG2-4 | chr19:43521383-43521753 | NONHSAT066578 |
48 | lnc-PSG9-1 | chr19:43808621-43808675 | NONHSAT066594 |
49 | lnc-PSG6-2 | chr19:43454299-43454539 | NONHSAT066575 |
50 | lnc-PSG9-2 | chr19:43728324-43728464 | NONHSAT066591 |
No data |
No data |
Variant related genes | Relation type |
---|---|
CEACAMP7 | TF binding region |
PSG4 | TF binding region |
CEACAMP9 | TF binding region |
ENSG00000231412 | TF binding region |
CEACAMP8 | TF binding region |
CEACAMP11 | TF binding region |
PSG2 | TF binding region |
ENSG00000227606 | TF binding region |
PSG5 | TF binding region |
CEACAMP4 | TF binding region |
PSG7 | TF binding region |
PSG11 | TF binding region |
PSG6 | TF binding region |
CEACAMP10 | TF binding region |
PSG9 | TF binding region |
CEACAMP7 | CpG island |
PSG4 | CpG island |
CEACAMP9 | CpG island |
ENSG00000231412 | CpG island |
CEACAMP8 | CpG island |
CEACAMP11 | CpG island |
PSG2 | CpG island |
ENSG00000227606 | CpG island |
PSG5 | CpG island |
CEACAMP4 | CpG island |
PSG7 | CpG island |
PSG11 | CpG island |
PSG6 | CpG island |
CEACAMP10 | CpG island |
PSG9 | CpG island |
ENSG00000243137 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7257959 | chr19:43390362-43390363 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs539238453 | chr19:43390368-43390369 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs559231396 | chr19:43390369-43390370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs572657307 | chr19:43390385-43390386 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs185690004 | chr19:43390400-43390401 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs561522025 | chr19:43390433-43390434 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs146023738 | chr19:43390490-43390491 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs10422685 | chr19:43390536-43390537 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs141265539 | chr19:43390540-43390541 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs12463041 | chr19:43390545-43390546 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs189211211 | chr19:43390547-43390548 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs551039471 | chr19:43390549-43390550 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs10422703 | chr19:43390557-43390558 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs527474259 | chr19:43390572-43390573 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs547298855 | chr19:43390586-43390587 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs567403120 | chr19:43390590-43390591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs115313920 | chr19:43390591-43390592 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs375581638 | chr19:43390594-43390595 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs368291916 | chr19:43390621-43390622 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs181585968 | chr19:43390654-43390655 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs145130004 | chr19:43390666-43390667 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs367735684 | chr19:43390667-43390668 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs372136112 | chr19:43390680-43390681 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs147151335 | chr19:43390725-43390726 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs566283059 | chr19:43390737-43390738 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs535175055 | chr19:43390739-43390740 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs555320763 | chr19:43390770-43390771 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs574996669 | chr19:43390810-43390811 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs544076621 | chr19:43390832-43390833 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs555912884 | chr19:43390839-43390840 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs531443025 | chr19:43390853-43390854 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs544743566 | chr19:43390882-43390883 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs34044506 | chr19:43390895-43390896 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs564597690 | chr19:43390938-43390939 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs549475693 | chr19:43390945-43390946 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs568067675 | chr19:43390952-43390953 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs527486556 | chr19:43391002-43391003 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs528883742 | chr19:43391006-43391007 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs547677033 | chr19:43391029-43391030 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs561253610 | chr19:43391030-43391031 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs529980972 | chr19:43391050-43391051 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs550029770 | chr19:43391063-43391064 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs566080239 | chr19:43391086-43391087 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs539600986 | chr19:43391118-43391119 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs10404617 | chr19:43391128-43391129 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs552705216 | chr19:43391174-43391175 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs185801963 | chr19:43391183-43391184 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs145692110 | chr19:43391184-43391185 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs368751997 | chr19:43391186-43391187 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs373893772 | chr19:43391187-43391188 | Weak transcription Enhancers | n/a | n/a | 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 | chr19:43387600-43390600 | Weak transcription | NHEK | skin |
2 | chr19:43387800-43391600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr19:43389200-43391800 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
4 | chr19:43389400-43390600 | Weak transcription | HMEC | breast |
5 | chr19:43389400-43391200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
6 | chr19:43389400-43391400 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
7 | chr19:43389400-43391600 | Weak transcription | Placenta | Placenta |
8 | chr19:43389400-43391600 | Weak transcription | HSMM | muscle |
9 | chr19:43389600-43391200 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
10 | chr19:43389600-43391400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
11 | chr19:43389600-43391400 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
12 | chr19:43389600-43391400 | Weak transcription | NHDF-Ad | bronchial |
13 | chr19:43389600-43391600 | Weak transcription | Muscle Satellite Cultured Cells | -- |
14 | chr19:43389600-43391800 | Weak transcription | NHLF | lung |
15 | chr19:43389800-43391600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
16 | chr19:43390600-43390800 | Enhancers | HMEC | breast |
17 | chr19:43390600-43393200 | Enhancers | NHEK | skin |
18 | chr19:43390800-43391200 | Weak transcription | HMEC | breast |
19 | chr19:43391200-43391600 | ZNF genes & repeats | A549 | lung |
20 | chr19:43391200-43392000 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
21 | chr19:43391200-43392200 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
22 | chr19:43391200-43395400 | Enhancers | HMEC | breast |
23 | chr19:43391400-43392000 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
24 | chr19:43391400-43392200 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
25 | chr19:43391400-43392200 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
26 | chr19:43391400-43392200 | Enhancers | NHDF-Ad | bronchial |
27 | chr19:43391600-43391800 | Enhancers | Foreskin Fibroblast Primary Cells skin02 | Skin |
28 | chr19:43391600-43392000 | Enhancers | Placenta | Placenta |
29 | chr19:43391600-43392000 | Enhancers | HSMM | muscle |
30 | chr19:43391600-43392200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
31 | chr19:43391600-43392600 | Enhancers | Muscle Satellite Cultured Cells | -- |
32 | chr19:43391600-43393400 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
33 | chr19:43391800-43392200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
34 | chr19:43391800-43392200 | Enhancers | NH-A | brain |
35 | chr19:43391800-43392200 | Enhancers | NHLF | lung |
36 | chr19:43392000-43393000 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
37 | chr19:43392000-43393200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
38 | chr19:43392000-43394800 | Weak transcription | Placenta | Placenta |
39 | chr19:43392200-43393200 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
40 | chr19:43392200-43393200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
41 | chr19:43392200-43393200 | Weak transcription | NH-A | brain |
42 | chr19:43392200-43393200 | Weak transcription | NHDF-Ad | bronchial |
43 | chr19:43392200-43393800 | Weak transcription | NHLF | lung |
44 | chr19:43392600-43393400 | Weak transcription | Muscle Satellite Cultured Cells | -- |
45 | chr19:43393000-43393400 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
46 | chr19:43393200-43393400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
47 | chr19:43393200-43393600 | Enhancers | NHDF-Ad | bronchial |
48 | chr19:43393200-43393600 | Flanking Active TSS | NHEK | skin |
49 | chr19:43393200-43393800 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
50 | chr19:43393200-43394200 | Enhancers | Brain Germinal Matrix | brain |