Variant report
Variant | nsv516973 |
---|---|
Chromosome Location | chr19:43202770-43866823 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:8704)
- CpG islands (count:4766)
- Chromatin interactive region (count:30)
- LncRNA region (count:90)
- 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 | ARID3A | chr19:43208643-43208644 | K562 | blood: | n/a | n/a |
2 | ATF1 | chr19:43733581-43733686 | K562 | blood: | n/a | n/a |
3 | ATF1 | chr19:43779068-43779071 | K562 | blood: | 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 | chr19:43686016-43686763 | A549 | lung: | n/a | n/a |
7 | ATF3 | chr19:43336336-43336928 | A549 | lung: | n/a | n/a |
8 | ATF3 | chr19:43355412-43355889 | A549 | lung: | n/a | n/a |
9 | ATF3 | chr19:43335307-43336092 | A549 | lung: | n/a | n/a |
10 | ATF3 | chr19:43335349-43336094 | A549 | lung: | n/a | n/a |
11 | BACH1 | chr19:43822401-43822627 | K562 | blood: | n/a | n/a |
12 | BACH1 | chr19:43822387-43822697 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | BACH1 | chr19:43820857-43821149 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | BATF | chr19:43591924-43592150 | GM12878 | blood: | n/a | n/a |
15 | BATF | chr19:43552186-43552537 | GM12878 | blood: | n/a | chr19:43552319-43552330 |
16 | BATF | chr19:43692257-43692526 | GM12878 | blood: | n/a | n/a |
17 | BATF | chr19:43302238-43302533 | GM12878 | blood: | n/a | chr19:43302344-43302355 |
18 | BATF | chr19:43552261-43552460 | GM12878 | blood: | n/a | chr19:43552319-43552330 |
19 | BATF | chr19:43271446-43271728 | GM12878 | blood: | n/a | n/a |
20 | BATF | chr19:43246213-43246502 | GM12878 | blood: | n/a | n/a |
21 | BATF | chr19:43738081-43738296 | GM12878 | blood: | n/a | chr19:43738185-43738196 |
22 | BATF | chr19:43775309-43775522 | GM12878 | blood: | n/a | n/a |
23 | BATF | chr19:43692397-43692675 | GM12878 | blood: | n/a | n/a |
24 | BATF | chr19:43818405-43818585 | GM12878 | blood: | n/a | n/a |
25 | BATF | chr19:43711409-43711658 | GM12878 | blood: | n/a | n/a |
26 | BATF | chr19:43361555-43361754 | GM12878 | blood: | n/a | n/a |
27 | BATF | chr19:43798559-43798850 | GM12878 | blood: | n/a | chr19:43798663-43798674 |
28 | BATF | chr19:43442962-43443231 | GM12878 | blood: | n/a | n/a |
29 | BATF | chr19:43588401-43588710 | GM12878 | blood: | n/a | n/a |
30 | BATF | chr19:43613006-43613315 | GM12878 | blood: | n/a | chr19:43613110-43613121 |
31 | BCL3 | chr19:43336972-43337663 | A549 | lung: | n/a | n/a |
32 | BCL3 | chr19:43336292-43336877 | A549 | lung: | n/a | n/a |
33 | BCL3 | chr19:43354910-43356058 | A549 | lung: | n/a | n/a |
34 | BCL3 | chr19:43402518-43403428 | A549 | lung: | n/a | n/a |
35 | BCL3 | chr19:43297507-43298116 | A549 | lung: | n/a | n/a |
36 | BCL3 | chr19:43354946-43356043 | A549 | lung: | n/a | n/a |
37 | BCL3 | chr19:43336159-43337656 | A549 | lung: | n/a | chr19:43336227-43336234 |
38 | BCL3 | chr19:43335242-43336126 | A549 | lung: | n/a | chr19:43335602-43335611 chr19:43335603-43335612 |
39 | BCL3 | chr19:43335292-43335990 | A549 | lung: | n/a | chr19:43335602-43335611 chr19:43335603-43335612 |
40 | BCL3 | chr19:43323095-43323355 | GM12878 | blood: | n/a | n/a |
41 | BHLHE40 | chr19:43820640-43821187 | K562 | blood: | n/a | n/a |
42 | BHLHE40 | chr19:43733601-43733620 | K562 | blood: | n/a | n/a |
43 | BHLHE40 | chr19:43427453-43427512 | GM12878 | blood: | n/a | n/a |
44 | BHLHE40 | chr19:43858417-43858453 | K562 | blood: | n/a | n/a |
45 | BHLHE40 | chr19:43385480-43385517 | K562 | blood: | n/a | n/a |
46 | BHLHE40 | chr19:43355572-43355890 | A549 | lung: | n/a | n/a |
47 | BHLHE40 | chr19:43709323-43709343 | K562 | blood: | n/a | n/a |
48 | BHLHE40 | chr19:43809984-43810194 | K562 | blood: | n/a | chr19:43810115-43810131 |
49 | BHLHE40 | chr19:43582147-43582203 | K562 | blood: | n/a | n/a |
50 | BRCA1 | chr19:43809902-43809911 | HepG2 | liver: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr19:43383405-43383455 | SKMC | muscle: | n/a |
2 | chr19:43269832-43269882 | AoSMC | blood vessel: | n/a |
3 | chr19:43680072-43680122 | AG09319 | gingival: | n/a |
4 | chr19:43423176-43423226 | AG04449 | skin: | fetal |
5 | chr19:43697480-43697530 | SK-N-MC | brain: | n/a |
6 | chr19:43442484-43442534 | PrEC | prostate: | n/a |
7 | chr19:43361218-43361268 | ECC-1 | luminal epithelium: | n/a |
8 | chr19:43709360-43709410 | U87 | brain: | n/a |
9 | chr19:43383405-43383455 | SKMC | muscle: | n/a |
10 | chr19:43269832-43269882 | AoSMC | blood vessel: | n/a |
11 | chr19:43680072-43680122 | AG09319 | gingival: | n/a |
12 | chr19:43423176-43423226 | AG04449 | skin: | fetal |
13 | chr19:43697480-43697530 | SK-N-MC | brain: | n/a |
14 | chr19:43442484-43442534 | PrEC | prostate: | n/a |
15 | chr19:43361218-43361268 | ECC-1 | luminal epithelium: | n/a |
16 | chr19:43709360-43709410 | U87 | brain: | n/a |
17 | chr19:43269877-43269927 | BJ | skin: | n/a |
18 | chr19:43711064-43711114 | Hepatocyte | liver: | n/a |
19 | chr19:43691878-43691928 | Hela-S3 | cervix: | n/a |
20 | chr19:43588069-43588119 | MCF10A-Er-Src | breast: | n/a |
21 | chr19:43851787-43851837 | HRPEpiC | eye: | n/a |
22 | chr19:43711249-43711299 | PFSK-1 | brain: | n/a |
23 | chr19:43858174-43858224 | Hela-S3 | cervix: | n/a |
24 | chr19:43257346-43257396 | ProgFib | skin: | n/a |
25 | chr19:43769725-43769775 | AG04449 | skin: | fetal |
26 | chr19:43683698-43683748 | Jurkat | blood: | n/a |
27 | chr19:43531770-43531820 | AG04450 | lung: | fetal |
28 | chr19:43265778-43265828 | GM19239 | blood: | n/a |
29 | chr19:43709832-43709882 | RPTEC | kidney: | n/a |
30 | chr19:43227392-43227442 | ProgFib | skin: | n/a |
31 | chr19:43588055-43588105 | T-47D | breast: | n/a |
32 | chr19:43866487-43866537 | GM19239 | blood: | n/a |
33 | chr19:43257346-43257396 | AG09319 | gingival: | n/a |
34 | chr19:43227392-43227442 | HCM | heart: | n/a |
35 | chr19:43710277-43710327 | PANC-1 | pancreas: | n/a |
36 | chr19:43691878-43691928 | ECC-1 | luminal epithelium: | n/a |
37 | chr19:43257346-43257396 | SAEC | small airway: | n/a |
38 | chr19:43773649-43773699 | HCT-116 | colon: | n/a |
39 | chr19:43269832-43269882 | SK-N-SH_RA | brain: | n/a |
40 | chr19:43442693-43442743 | AG09319 | gingival: | n/a |
41 | chr19:43410455-43410505 | SKMC | muscle: | n/a |
42 | chr19:43240516-43240566 | HPAEpiC | pulmonary alveolar: | n/a |
43 | chr19:43856746-43856796 | HAEpiC | amniotic membrane: | n/a |
44 | chr19:43385100-43385150 | BJ | skin: | n/a |
45 | chr19:43856594-43856644 | H1-hESC | embryonic stem cell: | embryo |
46 | chr19:43355659-43355709 | Jurkat | blood: | n/a |
47 | chr19:43530536-43530586 | ovcar-3 | ovarian: | n/a |
48 | chr19:43360755-43360805 | PFSK-1 | brain: | n/a |
49 | chr19:43514144-43514194 | HCM | heart: | n/a |
50 | chr19:43384780-43384830 | BJ | skin: | n/a |
(count:30 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr19:43857729..43859549-chr19:43967499..43969532,2 | MCF-7 | breast: | |
2 | chr19:43196586..43198250-chr19:43213574..43216161,2 | MCF-7 | breast: | |
3 | chr19:43837425..43840449-chr19:43845958..43849291,3 | MCF-7 | breast: | |
4 | chr1:117602243..117602763-chr19:43822533..43823090,2 | Hela-S3 | cervix: | |
5 | chr19:43809519..43810435-chr19:43820572..43821543,3 | K562 | blood: | |
6 | chr19:43197633..43198568-chr19:43280847..43281639,2 | K562 | blood: | |
7 | chr19:43265768..43266290-chr19:43769932..43770473,2 | MCF-7 | breast: | |
8 | chr19:43809493..43810365-chr19:43820777..43821441,3 | MCF-7 | breast: | |
9 | chr19:43523469..43524084-chr19:43531918..43532440,2 | MCF-7 | breast: | |
10 | chr19:43297087..43297875-chr19:43423005..43423976,2 | MCF-7 | breast: | |
11 | chr19:43809493..43810365-chr19:43820777..43821441,3 | MCF-7 | breast: | |
12 | chr19:43821071..43821590-chr19:43929652..43930334,2 | MCF-7 | breast: | |
13 | chr19:43678340..43681333-chr19:43698109..43700078,2 | MCF-7 | breast: | |
14 | chr19:43139154..43139986-chr19:43246322..43246897,2 | MCF-7 | breast: | |
15 | chr19:43809862..43810443-chr19:43929397..43930009,2 | MCF-7 | breast: | |
16 | chr19:43608137..43608719-chr19:43820621..43821519,2 | MCF-7 | breast: | |
17 | chr19:43523469..43524084-chr19:43531918..43532440,2 | MCF-7 | breast: | |
18 | chr19:43801843..43804269-chr19:43806143..43807885,2 | MCF-7 | breast: | |
19 | chr19:43820685..43821690-chr19:43929045..43930443,5 | MCF-7 | breast: | |
20 | chr19:43197626..43198528-chr19:43245881..43246809,2 | MCF-7 | breast: | |
21 | chr19:43837425..43840449-chr19:43845958..43849291,3 | MCF-7 | breast: | |
22 | chr19:43265768..43266290-chr19:43769932..43770473,2 | MCF-7 | breast: | |
23 | chr19:43608137..43608719-chr19:43820621..43821519,2 | MCF-7 | breast: | |
24 | chr19:43820533..43821452-chr19:44166758..44167329,2 | K562 | blood: | |
25 | chr19:43801843..43804269-chr19:43806143..43807885,2 | MCF-7 | breast: | |
26 | chr19:43197647..43198196-chr19:43280850..43281744,2 | MCF-7 | breast: | |
27 | chr19:43531581..43532101-chr2:1136088..1136613,2 | MCF-7 | breast: | |
28 | chr19:43809519..43810435-chr19:43820572..43821543,3 | K562 | blood: | |
29 | chr19:43197619..43198590-chr19:43246174..43246898,3 | MCF-7 | breast: | |
30 | chr19:43835562..43838441-chr19:43843809..43845441,2 | MCF-7 | breast: |
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-PSG3-1 | chr19:43258485-43260276 | NONHSAT066566 |
2 | lnc-AC005392.1-1 | chr19:43864837-43864995 | ENSG00000272396.1 |
3 | lnc-PSG9-2 | chr19:43724783-43725023 | NONHSAT066593 |
4 | lnc-PSG9-2 | chr19:43728324-43728464 | NONHSAT066591 |
5 | lnc-PSG6-2 | chr19:43454299-43454539 | NONHSAT066575 |
6 | lnc-AC005392.1-1 | chr19:43866622-43866779 | ENSG00000272396.1 |
7 | lnc-PSG6-1 | chr19:43430590-43430868 | NR_073194 |
8 | lnc-PSG6-3 | chr19:43372908-43374797 | NONHSAT066572 |
9 | lnc-PSG6-3 | chr19:43372253-43372507 | NONHSAT066572 |
10 | lnc-PSG6-3 | chr19:43370618-43371302 | NONHSAT066572 |
11 | lnc-PSG2-4 | chr19:43521383-43521753 | NONHSAT066578 |
12 | lnc-PSG6-1 | chr19:43441165-43441330 | NONHSAT066574 |
13 | lnc-PSG6-2 | chr19:43453655-43453909 | NONHSAT066575 |
14 | lnc-PSG1-1 | chr19:43343447-43343530 | NONHSAT066571 |
15 | lnc-CD177-1 | chr19:43659324-43659477 | ENSG00000227606.1 |
16 | lnc-PSG9-2 | chr19:43715943-43716627 | NONHSAT066591 |
17 | lnc-PSG2-5 | chr19:43514422-43514579 | NONHSAT066577 |
18 | lnc-PSG1-1 | chr19:43359708-43359870 | NONHSAT066571 |
19 | lnc-PSG6-1 | chr19:43428284-43428976 | NR_073194 |
20 | lnc-PSG9-2 | chr19:43715943-43716627 | NONHSAT066592 |
21 | lnc-PSG1-1 | chr19:43348511-43348765 | NONHSAT146988 |
22 | lnc-PSG2-5 | chr19:43511982-43512194 | NONHSAT066576 |
23 | lnc-PSG3-1 | chr19:43256843-43257528 | NONHSAT066566 |
24 | lnc-PSG1-1 | chr19:43348511-43348765 | NONHSAT066571 |
25 | lnc-PSG6-1 | chr19:43440309-43440647 | NONHSAT066574 |
26 | lnc-PSG9-2 | chr19:43752643-43752798 | NONHSAT066591 |
27 | lnc-PSG2-1 | chr19:43586658-43586820 | NONHSAT066581 |
28 | lnc-PSG8-1 | chr19:43285358-43285449 | NONHSAT066567 |
29 | lnc-PSG6-1 | chr19:43429925-43430179 | NR_073194 |
30 | lnc-AC005392.1-2 | chr19:43833447-43833660 | ENSG00000231412.2 |
31 | lnc-PSG8-1 | chr19:43289879-43290117 | NONHSAT066567 |
32 | lnc-PSG6-1 | chr19:43428286-43428976 | NONHSAT066573 |
33 | lnc-CD177-1 | chr19:43658863-43659311 | ENSG00000227606.1 |
34 | lnc-PSG2-1 | chr19:43585939-43586423 | NONHSAT066581 |
35 | lnc-CD177-1 | chr19:43665002-43665014 | ENSG00000227606.1 |
36 | lnc-CD177-3 | chr19:43831344-43831587 | expReg_chr19_6043_+ |
37 | lnc-PSG1-1 | chr19:43343708-43343916 | NONHSAT066571 |
38 | lnc-PSG6-1 | chr19:43433594-43433872 | NR_073194 |
39 | lnc-PSG2-2 | chr19:43587104-43587197 | NONHSAT066580 |
40 | lnc-PSG2-5 | chr19:43519268-43519426 | NONHSAT066577 |
41 | lnc-PSG1-1 | chr19:43359708-43359870 | NONHSAT146988 |
42 | lnc-PSG11-1 | chr19:43540021-43540112 | NONHSAT066579 |
43 | lnc-PSG1-1 | chr19:43343520-43343530 | NONHSAT146988 |
44 | lnc-PSG6-1 | chr19:43429925-43431729 | NONHSAT066573 |
45 | lnc-PSG9-1 | chr19:43807323-43807688 | NONHSAT066594 |
46 | lnc-PSG1-1 | chr19:43341149-43341602 | NONHSAT066570 |
47 | lnc-PSG11-1 | chr19:43545168-43545400 | NONHSAT066579 |
48 | lnc-PSG1-1 | chr19:43343708-43343916 | NONHSAT146988 |
49 | lnc-PSG2-4 | chr19:43522922-43523199 | NONHSAT066578 |
50 | lnc-PSG11-1 | chr19:43544526-43544780 | NONHSAT066579 |
No data |
No data |
Variant related genes | Relation type |
---|---|
CEACAMP7 | TF binding region |
PSG4 | TF binding region |
CD177 | TF binding region |
CEACAMP9 | TF binding region |
PSG8 | TF binding region |
ENSG00000231412 | TF binding region |
CEACAMP8 | TF binding region |
PSG1 | 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 |
ENSG00000225877 | TF binding region |
PSG6 | TF binding region |
CEACAMP10 | TF binding region |
CEACAMP6 | TF binding region |
PSG3 | TF binding region |
PSG10P | TF binding region |
PSG9 | TF binding region |
CEACAMP7 | CpG island |
PSG4 | CpG island |
CD177 | CpG island |
CEACAMP9 | CpG island |
PSG8 | CpG island |
ENSG00000231412 | CpG island |
CEACAMP8 | CpG island |
PSG1 | CpG island |
CEACAMP11 | CpG island |
PSG2 | CpG island |
ENSG00000227606 | CpG island |
PSG5 | CpG island |
CEACAMP4 | CpG island |
PSG7 | CpG island |
PSG11 | CpG island |
ENSG00000225877 | CpG island |
PSG6 | CpG island |
CEACAMP10 | CpG island |
CEACAMP6 | CpG island |
PSG3 | CpG island |
PSG10P | CpG island |
PSG9 | CpG island |
ENSG00000243137 | chromatin interactions |
ENSG00000170848 | chromatin interactions |
ENSG00000231412 | chromatin interactions |
ENSG00000124466 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs10412221 | chr19:43202770-43202771 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs140579570 | chr19:43202779-43202780 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs137979355 | chr19:43202791-43202792 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs373522626 | chr19:43202792-43202793 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs112530025 | chr19:43202866-43202867 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs539784242 | chr19:43202870-43202871 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs552135296 | chr19:43202885-43202886 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs191720574 | chr19:43202941-43202942 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs534336666 | chr19:43202998-43202999 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs73932764 | chr19:43203002-43203003 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs574202741 | chr19:43203035-43203036 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs568380646 | chr19:43203080-43203081 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs147090647 | chr19:43203087-43203088 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs138450953 | chr19:43203098-43203099 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs115983985 | chr19:43203106-43203107 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs577053544 | chr19:43203143-43203144 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs557553096 | chr19:43203150-43203151 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs143926165 | chr19:43203184-43203185 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs184028772 | chr19:43203216-43203217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs573240768 | chr19:43203273-43203274 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs371407708 | chr19:43203276-43203277 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs537140106 | chr19:43203348-43203349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs562115902 | chr19:43203387-43203388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs555217418 | chr19:43203403-43203404 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs147279703 | chr19:43203456-43203457 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs573557706 | chr19:43203470-43203471 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs8109696 | chr19:43203507-43203508 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs537425948 | chr19:43203558-43203559 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs556186521 | chr19:43203647-43203648 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs115518342 | chr19:43203682-43203683 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs138788715 | chr19:43203701-43203702 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs578255074 | chr19:43203723-43203724 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs546947290 | chr19:43203791-43203792 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs560174281 | chr19:43203817-43203818 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs369818283 | chr19:43203823-43203824 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs554177972 | chr19:43203882-43203883 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs566837738 | chr19:43203967-43203968 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs186875520 | chr19:43203979-43203980 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs574071676 | chr19:43204000-43204001 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs192149755 | chr19:43204008-43204009 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs59950962 | chr19:43204024-43204025 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs536783808 | chr19:43204044-43204045 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs371243936 | chr19:43204051-43204052 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs34069522 | chr19:43204102-43204103 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs557100716 | chr19:43204125-43204126 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs570526026 | chr19:43204136-43204137 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs557028999 | chr19:43204145-43204146 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs185725106 | chr19:43204155-43204156 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs149361387 | chr19:43204245-43204246 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs576819096 | chr19:43204298-43204299 | Weak transcription | 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 |
Lung squamous cell carcinoma | 22363434 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:43200600-43203000 | Enhancers | Placenta | Placenta |
2 | chr19:43203000-43204600 | Weak transcription | Placenta | Placenta |
3 | chr19:43204000-43204200 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
4 | chr19:43204600-43204800 | Enhancers | Placenta | Placenta |
5 | chr19:43213600-43215000 | Enhancers | Placenta | Placenta |
6 | chr19:43214400-43214800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
7 | chr19:43215000-43215600 | Enhancers | A549 | lung |
8 | chr19:43215000-43216600 | Weak transcription | Placenta | Placenta |
9 | chr19:43216600-43217400 | Enhancers | Placenta | Placenta |
10 | chr19:43217400-43217800 | Weak transcription | Placenta | Placenta |
11 | chr19:43217800-43218000 | Enhancers | Placenta | Placenta |
12 | chr19:43218000-43227200 | Weak transcription | Placenta | Placenta |
13 | chr19:43227200-43229200 | Strong transcription | Placenta | Placenta |
14 | chr19:43229200-43233600 | Weak transcription | Placenta | Placenta |
15 | chr19:43232400-43233600 | Enhancers | Brain Hippocampus Middle | brain |
16 | chr19:43232600-43233200 | Enhancers | Brain Cingulate Gyrus | brain |
17 | chr19:43232800-43233200 | Enhancers | Brain Substantia Nigra | brain |
18 | chr19:43233200-43236800 | Weak transcription | Brain Substantia Nigra | brain |
19 | chr19:43233600-43233800 | Genic enhancers | Placenta | Placenta |
20 | chr19:43233800-43234200 | Weak transcription | Placenta | Placenta |
21 | chr19:43234200-43235000 | Genic enhancers | Placenta | Placenta |
22 | chr19:43235000-43236600 | Weak transcription | Placenta | Placenta |
23 | chr19:43236600-43237600 | Genic enhancers | Placenta | Placenta |
24 | chr19:43236800-43237200 | Active TSS | Brain Substantia Nigra | brain |
25 | chr19:43237600-43238400 | Weak transcription | Placenta | Placenta |
26 | chr19:43238400-43241600 | Active TSS | Placenta | Placenta |
27 | chr19:43239000-43240400 | Enhancers | NHDF-Ad | bronchial |
28 | chr19:43239000-43242200 | Enhancers | Osteobl | bone |
29 | chr19:43239000-43242800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
30 | chr19:43239200-43242000 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
31 | chr19:43239400-43240400 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
32 | chr19:43239400-43242000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
33 | chr19:43239400-43242200 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
34 | chr19:43239400-43242400 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
35 | chr19:43239400-43242400 | Enhancers | HMEC | breast |
36 | chr19:43239400-43242800 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
37 | chr19:43239800-43240400 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
38 | chr19:43239800-43242000 | Enhancers | NH-A | brain |
39 | chr19:43239800-43242600 | Enhancers | NHEK | skin |
40 | chr19:43240000-43240200 | Enhancers | Foreskin Fibroblast Primary Cells skin02 | Skin |
41 | chr19:43240000-43240200 | Enhancers | HSMM | muscle |
42 | chr19:43240000-43240200 | Enhancers | NHLF | lung |
43 | chr19:43240000-43241000 | Enhancers | Muscle Satellite Cultured Cells | -- |
44 | chr19:43240000-43241200 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
45 | chr19:43240000-43242000 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
46 | chr19:43240200-43241000 | Weak transcription | NHLF | lung |
47 | chr19:43240200-43241600 | Weak transcription | HSMM | muscle |
48 | chr19:43240400-43240800 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
49 | chr19:43240400-43240800 | Weak transcription | NHDF-Ad | bronchial |
50 | chr19:43240400-43241400 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |