Variant report
Variant | nsv817507 |
---|---|
Chromosome Location | chr5:12404458-12902524 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1644)
- CpG islands (count:1225)
- Chromatin interactive region (count:123)
- LncRNA region (count:33)
- 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 | chr5:12573954-12574062 | K562 | blood: | n/a | n/a |
2 | ARID3A | chr5:12645737-12645937 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr5:12615141-12616053 | K562 | blood: | n/a | n/a |
4 | ARID3A | chr5:12629284-12629314 | K562 | blood: | n/a | n/a |
5 | ARID3A | chr5:12587530-12587610 | K562 | blood: | n/a | n/a |
6 | ARID3A | chr5:12605684-12605760 | HepG2 | liver: | n/a | n/a |
7 | ARID3A | chr5:12611278-12611564 | K562 | blood: | n/a | n/a |
8 | ARID3A | chr5:12845071-12845075 | K562 | blood: | n/a | n/a |
9 | ARID3A | chr5:12772446-12772684 | K562 | blood: | n/a | n/a |
10 | ARID3A | chr5:12625817-12626175 | K562 | blood: | n/a | n/a |
11 | ATF1 | chr5:12777500-12777758 | K562 | blood: | n/a | n/a |
12 | ATF1 | chr5:12406373-12406469 | K562 | blood: | n/a | n/a |
13 | ATF1 | chr5:12612014-12612205 | K562 | blood: | n/a | n/a |
14 | ATF1 | chr5:12611394-12611564 | K562 | blood: | n/a | n/a |
15 | ATF1 | chr5:12636538-12636665 | K562 | blood: | n/a | n/a |
16 | ATF1 | chr5:12625855-12626127 | K562 | blood: | n/a | n/a |
17 | ATF1 | chr5:12865632-12865696 | K562 | blood: | n/a | n/a |
18 | ATF1 | chr5:12615012-12615715 | K562 | blood: | n/a | n/a |
19 | ATF1 | chr5:12434123-12434173 | K562 | blood: | n/a | n/a |
20 | ATF1 | chr5:12772433-12772741 | K562 | blood: | n/a | n/a |
21 | ATF1 | chr5:12599710-12599720 | K562 | blood: | n/a | n/a |
22 | ATF2 | chr5:12662664-12663813 | H1-hESC | embryonic stem cell: | n/a | n/a |
23 | ATF2 | chr5:12658521-12660660 | H1-hESC | embryonic stem cell: | n/a | n/a |
24 | ATF2 | chr5:12668042-12668298 | H1-hESC | embryonic stem cell: | n/a | n/a |
25 | ATF2 | chr5:12667909-12668201 | H1-hESC | embryonic stem cell: | n/a | n/a |
26 | ATF2 | chr5:12657998-12658420 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | ATF2 | chr5:12648499-12649011 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | ATF2 | chr5:12623287-12624095 | H1-hESC | embryonic stem cell: | n/a | n/a |
29 | ATF2 | chr5:12662712-12663504 | H1-hESC | embryonic stem cell: | n/a | n/a |
30 | ATF2 | chr5:12660692-12662536 | H1-hESC | embryonic stem cell: | n/a | n/a |
31 | ATF3 | chr5:12772414-12772810 | K562 | blood: | n/a | n/a |
32 | ATF3 | chr5:12772509-12772655 | K562 | blood: | n/a | n/a |
33 | BACH1 | chr5:12627636-12627648 | K562 | blood: | n/a | n/a |
34 | BACH1 | chr5:12627924-12628106 | K562 | blood: | n/a | n/a |
35 | BACH1 | chr5:12772460-12772773 | K562 | blood: | n/a | n/a |
36 | BACH1 | chr5:12615423-12615929 | K562 | blood: | n/a | n/a |
37 | BATF | chr5:12791862-12792048 | GM12878 | blood: | n/a | n/a |
38 | BCL11A | chr5:12505213-12505415 | H1-hESC | embryonic stem cell: | n/a | n/a |
39 | BCLAF1 | chr5:12615205-12615584 | K562 | blood: | n/a | n/a |
40 | BHLHE40 | chr5:12616429-12616837 | K562 | blood: | n/a | n/a |
41 | BHLHE40 | chr5:12772578-12772678 | K562 | blood: | n/a | n/a |
42 | BHLHE40 | chr5:12614798-12616107 | K562 | blood: | n/a | n/a |
43 | BHLHE40 | chr5:12574678-12575143 | K562 | blood: | n/a | n/a |
44 | CBX3 | chr5:12578931-12579331 | K562 | blood: | n/a | n/a |
45 | CBX3 | chr5:12615155-12615822 | K562 | blood: | n/a | n/a |
46 | CBX3 | chr5:12662769-12663016 | K562 | blood: | n/a | n/a |
47 | CBX3 | chr5:12772417-12772891 | K562 | blood: | n/a | n/a |
48 | CBX3 | chr5:12574582-12575256 | K562 | blood: | n/a | n/a |
49 | CCNT2 | chr5:12808646-12808850 | K562 | blood: | n/a | n/a |
50 | CCNT2 | chr5:12574035-12574280 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:12636281-12636331 | NHBE | bronchial: | n/a |
2 | chr5:12865512-12865562 | AoSMC | blood vessel: | n/a |
3 | chr5:12623177-12623227 | AG10803 | skin: | n/a |
4 | chr5:12791029-12791079 | NB4 | blood: | n/a |
5 | chr5:12794310-12794360 | HRPEpiC | eye: | n/a |
6 | chr5:12636281-12636331 | NHBE | bronchial: | n/a |
7 | chr5:12865512-12865562 | AoSMC | blood vessel: | n/a |
8 | chr5:12623177-12623227 | AG10803 | skin: | n/a |
9 | chr5:12791029-12791079 | NB4 | blood: | n/a |
10 | chr5:12794310-12794360 | HRPEpiC | eye: | n/a |
11 | chr5:12669584-12669634 | HNPCEpiC | eye: | n/a |
12 | chr5:12636281-12636331 | HEEpiC | esophagus: | n/a |
13 | chr5:12794310-12794360 | HRE | kidney: | n/a |
14 | chr5:12795410-12795460 | GM12878 | blood: | n/a |
15 | chr5:12636281-12636331 | AoSMC | blood vessel: | n/a |
16 | chr5:12623177-12623227 | Hepatocyte | liver: | n/a |
17 | chr5:12795183-12795233 | GM12891 | blood: | n/a |
18 | chr5:12794310-12794360 | NT2-D1 | testis: | n/a |
19 | chr5:12795183-12795233 | A549 | lung: | n/a |
20 | chr5:12661875-12661925 | MCF10A-Er-Src | breast: | n/a |
21 | chr5:12795410-12795460 | ECC-1 | luminal epithelium: | n/a |
22 | chr5:12795183-12795233 | H1-hESC | embryonic stem cell: | embryo |
23 | chr5:12795183-12795233 | NB4 | blood: | n/a |
24 | chr5:12791029-12791079 | HRCEpiC | kidney: | n/a |
25 | chr5:12795646-12795696 | HRPEpiC | eye: | n/a |
26 | chr5:12669584-12669634 | NB4 | blood: | n/a |
27 | chr5:12574688-12574738 | RPTEC | kidney: | n/a |
28 | chr5:12574688-12574738 | NHBE | bronchial: | n/a |
29 | chr5:12661875-12661925 | CMK | blood: | n/a |
30 | chr5:12795410-12795460 | NH-A | brain: | n/a |
31 | chr5:12665869-12665919 | NHDF-neo | bronchial: | n/a |
32 | chr5:12795646-12795696 | NT2-D1 | testis: | n/a |
33 | chr5:12663018-12663068 | A549 | lung: | n/a |
34 | chr5:12794310-12794360 | U87 | brain: | n/a |
35 | chr5:12661875-12661925 | GM12891 | blood: | n/a |
36 | chr5:12669584-12669634 | NT2-D1 | testis: | n/a |
37 | chr5:12865512-12865562 | AG04450 | lung: | fetal |
38 | chr5:12795183-12795233 | AG04450 | lung: | fetal |
39 | chr5:12795705-12795755 | NHDF-neo | bronchial: | n/a |
40 | chr5:12795183-12795233 | IMR90 | lung: | fetal |
41 | chr5:12665869-12665919 | HAEpiC | amniotic membrane: | n/a |
42 | chr5:12636281-12636331 | HAEpiC | amniotic membrane: | n/a |
43 | chr5:12669584-12669634 | U87 | brain: | n/a |
44 | chr5:12663018-12663068 | Jurkat | blood: | n/a |
45 | chr5:12663018-12663068 | GM12892 | blood: | n/a |
46 | chr5:12795705-12795755 | HPAEpiC | pulmonary alveolar: | n/a |
47 | chr5:12795705-12795755 | SAEC | small airway: | n/a |
48 | chr5:12795410-12795460 | ovcar-3 | ovarian: | n/a |
49 | chr5:12795183-12795233 | HCPEpiC | choroid plexus: | n/a |
50 | chr5:12623177-12623227 | SK-N-SH_RA | brain: | n/a |
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:12780362..12783052-chr5:12785644..12787505,2 | K562 | blood: | |
2 | chr5:12572879..12575641-chr5:12583464..12586142,3 | K562 | blood: | |
3 | chr5:12710496..12712610-chr5:12713708..12716321,2 | MCF-7 | breast: | |
4 | chr5:12853246..12855254-chr5:12857418..12860229,2 | MCF-7 | breast: | |
5 | chr5:12810723..12813220-chr5:12814346..12816159,2 | MCF-7 | breast: | |
6 | chr5:12566855..12569678-chr5:12570834..12573967,4 | MCF-7 | breast: | |
7 | chr5:12637154..12639145-chr5:12647301..12649033,2 | K562 | blood: | |
8 | chr5:12614374..12617488-chr5:12617619..12619777,3 | K562 | blood: | |
9 | chr5:12579405..12581985-chr5:12616959..12619800,2 | K562 | blood: | |
10 | chr5:12832982..12835873-chr5:12839996..12843088,3 | K562 | blood: | |
11 | chr5:12815455..12818211-chr5:12818393..12820982,3 | MCF-7 | breast: | |
12 | chr5:12562087..12563726-chr5:12565679..12568553,2 | K562 | blood: | |
13 | chr5:12608674..12611130-chr5:12636501..12638880,2 | K562 | blood: | |
14 | chr5:12710496..12712610-chr5:12713708..12716321,2 | MCF-7 | breast: | |
15 | chr5:12576312..12579149-chr5:12776108..12778231,2 | K562 | blood: | |
16 | chr5:12743681..12745562-chr5:12760278..12762840,2 | K562 | blood: | |
17 | chr5:12647069..12649041-chr5:12653810..12656965,3 | K562 | blood: | |
18 | chr5:12537002..12539656-chr5:12586201..12588814,2 | K562 | blood: | |
19 | chr5:12612602..12617488-chr5:12617661..12622972,6 | K562 | blood: | |
20 | chr5:12614374..12617488-chr5:12617619..12619777,3 | K562 | blood: | |
21 | chr10:102105957..102107814-chr5:12679811..12681638,2 | MCF-7 | breast: | |
22 | chr5:12833534..12837794-chr5:12838880..12843037,3 | MCF-7 | breast: | |
23 | chr5:12637921..12640108-chr5:12640320..12642573,2 | K562 | blood: | |
24 | chr5:12589520..12591629-chr5:12614668..12616853,2 | K562 | blood: | |
25 | chr5:12760900..12763053-chr5:12763056..12765696,2 | K562 | blood: | |
26 | chr5:12576312..12579149-chr5:12776108..12778231,2 | K562 | blood: | |
27 | chr5:12703528..12705046-chr5:12710595..12712392,2 | K562 | blood: | |
28 | chr5:12790107..12792363-chr5:12800379..12802802,3 | MCF-7 | breast: | |
29 | chr5:12577735..12580318-chr5:12581576..12583762,3 | K562 | blood: | |
30 | chr5:12537002..12539656-chr5:12586201..12588814,2 | K562 | blood: | |
31 | chr5:12743681..12745562-chr5:12760278..12762840,2 | K562 | blood: | |
32 | chr5:12589520..12591629-chr5:12614668..12616853,2 | K562 | blood: | |
33 | chr5:12779777..12782009-chr5:12783141..12784661,2 | MCF-7 | breast: | |
34 | chr5:12652370..12654399-chr5:12657778..12661483,4 | K562 | blood: | |
35 | chr5:12588869..12590687-chr5:12605878..12607397,2 | K562 | blood: | |
36 | chr5:12272244..12273131-chr5:12803955..12804598,2 | MCF-7 | breast: | |
37 | chr5:12546310..12548435-chr5:12549138..12551097,2 | K562 | blood: | |
38 | chr5:12653349..12655490-chr5:12663314..12666064,2 | K562 | blood: | |
39 | chr5:12647069..12649041-chr5:12653810..12656965,3 | K562 | blood: | |
40 | chr5:12778478..12781516-chr5:12781802..12783481,3 | K562 | blood: | |
41 | chr5:12653349..12655490-chr5:12663314..12666064,2 | K562 | blood: | |
42 | chr5:12573179..12575899-chr5:12592386..12594967,2 | K562 | blood: | |
43 | chr5:12588618..12591381-chr5:12596169..12597807,2 | K562 | blood: | |
44 | chr5:12546310..12548435-chr5:12549138..12551097,2 | K562 | blood: | |
45 | chr5:12569399..12571855-chr5:12571987..12574855,2 | K562 | blood: | |
46 | chr5:12576814..12579689-chr5:12594654..12596559,2 | K562 | blood: | |
47 | chr5:12815455..12818211-chr5:12818393..12820982,3 | MCF-7 | breast: | |
48 | chr5:12557146..12558747-chr5:12560771..12562482,2 | K562 | blood: | |
49 | chr5:12580769..12583015-chr5:13118744..13121010,2 | K562 | blood: | |
50 | chr5:12474403..12476609-chr5:12481266..12483137,2 | MCF-7 | breast: |
(count:33 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-TRIO-9 | chr5:12648871-12648890 | l_2878_chr5:12648870-12708792_testes |
2 | lnc-TRIO-4 | chr5:12595809-12595890 | ENSG00000248131 |
3 | lnc-TRIO-4 | chr5:12574969-12575164 | ENSG00000248131 |
4 | lnc-CTNND2-3 | chr5:12659546-12660157 | NONHSAT100517 |
5 | lnc-CTNND2-3 | chr5:12737810-12737969 | NONHSAT100517 |
6 | lnc-TRIO-4 | chr5:12574969-12575164 | ENSG00000248131 |
7 | lnc-TRIO-9 | chr5:12708650-12708792 | l_2878_chr5:12648870-12708792_testes |
8 | lnc-TRIO-4 | chr5:12595809-12595890 | NONHSAT100514 |
9 | lnc-TRIO-4 | chr5:12654759-12655799 | ENSG00000248131 |
10 | lnc-TRIO-4 | chr5:12595809-12595890 | ENSG00000248131 |
11 | lnc-CTNND2-3 | chr5:12663441-12664022 | NONHSAT100517 |
12 | lnc-TRIO-4 | chr5:12805052-12805295 | NONHSAT100511 |
13 | lnc-TRIO-4 | chr5:12805052-12805295 | NONHSAT100514 |
14 | lnc-TRIO-4 | chr5:12711310-12711411 | ENSG00000248131 |
15 | lnc-DNAH5-8 | chr5:12902058-12902176 | NONHSAT100521 |
16 | lnc-TRIO-8 | chr5:12794843-12795634 | NONHSAT100519 |
17 | lnc-TRIO-9 | chr5:12707759-12708641 | l_2878_chr5:12648870-12708792_testes |
18 | lnc-TRIO-4 | chr5:12711310-12711411 | NONHSAT100511 |
19 | lnc-DNAH5-8 | chr5:12888100-12888396 | NONHSAT100521 |
20 | lnc-TRIO-4 | chr5:12574969-12575164 | NONHSAT100514 |
21 | lnc-TRIO-4 | chr5:12574969-12575164 | NONHSAT100511 |
22 | lnc-TRIO-4 | chr5:12574969-12575164 | ENSG00000248131 |
23 | lnc-TRIO-4 | chr5:12711310-12711411 | ENSG00000248131 |
24 | lnc-CTNND2-3 | chr5:12723669-12723939 | NONHSAT100517 |
25 | lnc-TRIO-4 | chr5:12804316-12804475 | ENSG00000248131 |
26 | lnc-CTNND2-3 | chr5:12653170-12654688 | NONHSAT100517 |
27 | lnc-TRIO-4 | chr5:12595809-12595890 | ENSG00000248131 |
28 | lnc-TRIO-4 | chr5:12759471-12759760 | ENSG00000248131 |
29 | lnc-CTNND2-4 | chr5:12794212-12794843 | NONHSAT100518 |
30 | lnc-TRIO-4 | chr5:12711310-12711411 | NONHSAT100514 |
31 | lnc-DNAH5-2 | chr5:12837290-12837367 | XLOC_004737 |
32 | lnc-DNAH5-2 | chr5:12861970-12862122 | XLOC_004737 |
33 | lnc-CTNND2-3 | chr5:12657511-12658227 | NONHSAT100517 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000248783 | TF binding region |
CT49 | TF binding region |
ENSG00000264921 | TF binding region |
ENSG00000251112 | TF binding region |
ENSG00000249053 | TF binding region |
ENSG00000248783 | CpG island |
CT49 | CpG island |
ENSG00000264921 | CpG island |
ENSG00000251112 | CpG island |
ENSG00000249053 | CpG island |
ENSG00000249053 | chromatin interactions |
ENSG00000248131 | chromatin interactions |
ENSG00000099194 | chromatin interactions |
ENSG00000248783 | chromatin interactions |
ENSG00000231188 | chromatin interactions |
ANKIB1 | miRNA target sites |
PURA | miRNA target sites |
BMPR2 | miRNA target sites |
MLL2 | miRNA target sites |
ANKRD13B | miRNA target sites |
CITED2 | miRNA target sites |
ARHGEF7 | miRNA target sites |
FAM171A1 | miRNA target sites |
TRIM44 | miRNA target sites |
NIN | miRNA target sites |
PSMD7 | miRNA target sites |
ABL2 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs560632733 | chr5:12411406-12411407 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs34210800 | chr5:12411431-12411432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs369912818 | chr5:12411434-12411435 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs202091701 | chr5:12411436-12411437 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs397881888 | chr5:12411439-12411440 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs72744021 | chr5:12411488-12411489 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs572418941 | chr5:12411553-12411554 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs546123564 | chr5:12411600-12411601 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs145472355 | chr5:12411623-12411624 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs369215967 | chr5:12411624-12411625 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs190973196 | chr5:12411660-12411661 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs549920292 | chr5:12411706-12411707 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs567293129 | chr5:12411728-12411729 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs137985868 | chr5:12411730-12411731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs548569215 | chr5:12411755-12411756 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs72744022 | chr5:12411761-12411762 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs565737259 | chr5:12411779-12411780 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs569131047 | chr5:12411806-12411807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs539406051 | chr5:12411816-12411817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs551669644 | chr5:12411850-12411851 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs570299471 | chr5:12411891-12411892 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs7701021 | chr5:12411896-12411897 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs371024007 | chr5:12411899-12411900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs183067902 | chr5:12411939-12411940 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs574490268 | chr5:12411953-12411954 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs7701437 | chr5:12411982-12411983 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs7701058 | chr5:12412010-12412011 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs187401034 | chr5:12412024-12412025 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs545781360 | chr5:12412062-12412063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs139797914 | chr5:12412096-12412097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs398108610 | chr5:12412099-12412100 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs564245314 | chr5:12412100-12412101 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs70959020 | chr5:12412101-12412102 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs576269717 | chr5:12412154-12412155 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs141790590 | chr5:12412193-12412194 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs150179811 | chr5:12412231-12412232 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs138640123 | chr5:12412239-12412240 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs35892181 | chr5:12412246-12412247 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs547492968 | chr5:12412312-12412313 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs192042803 | chr5:12412374-12412375 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs147347340 | chr5:12412404-12412405 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs551338118 | chr5:12412437-12412438 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs570290204 | chr5:12412443-12412444 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs537743480 | chr5:12412457-12412458 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs549359831 | chr5:12412475-12412476 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs114013600 | chr5:12412487-12412488 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs535188263 | chr5:12412559-12412560 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs528876159 | chr5:12412579-12412580 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs553921852 | chr5:12412609-12412610 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs182692301 | chr5:12412639-12412640 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Cervical squamous cell carcinoma | 21590768 | CNVD |
abnormal development | 18461090 | CNVD |
Lung cancer | 19547694 | CNVD |
Cri-du chat syndrome | 22283845 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Cancer | 21183584 | CNVD |
Honadal dysgenesis | 21048976 | CNVD |
Cancer | 16751803 | CNVD |
Breast cancer | 17133270 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Kartagener syndrome | 16639409 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Liposarcoma | 21253554 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Cervical cancer | 21062161 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Oral cancer | 21386901 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Cervical cancer | 18559093 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Malaria | 21533027 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Gastric cancer | 22152101 | CNVD |
Oesophago-gastric ulcer | 22152101 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Cancer | 20164919 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Multiple myeloma | 17550852 | CNVD |
prenatal diagnosis | 22389664 | CNVD |
Bladder cancer | 21909424 | CNVD |
DNA damage stimulus | 22844521 | CNVD |
DNA repair | 22844521 | CNVD |
Breast cancer | 21785460 | CNVD |
Spinal muscular atrophy | 22422766 | CNVD |
Spinal muscular atrophy | 22558076 | CNVD |
Spinal muscular atrophy | 21320981 | CNVD |
Spinal muscular atrophy | 21762474 | CNVD |
Breast cancer | 21858162 | CNVD |
Prostate cancer | 18632612 | CNVD |
Esophageal adenocarcinoma | 19417022 | CNVD |
Breast cancer | 21364760 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Autism | 22495311 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 16608533 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Melanoma | 18172304 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Intellectual disability | 22102821 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Cri-du chat syndrome | 16773131 | CNVD |
Cryptorchidism | 21048976 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Cervical cancer | 16585170 | CNVD |
Mental retardation | 16773131 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Cri-du chat syndrome | 22470819 | CNVD |
sporadic birth defects | 19047251 | CNVD |
Non-small cell lung cancer | 17643093 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Schizophrenia | 18940311 | CNVD |
Central neurocytomas | 17123091 | CNVD |
Mental retardation | 17847001 | CNVD |
Neurocytoma | 17123091 | CNVD |
Mental retardation | 19546859 | CNVD |
Pleomorphic liposarcoma | 18784837 | CNVD |
Williams Syndrome | 20824207 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Glioma | 20126413 | CNVD |
Schizophrenia | 21346763 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Stenocardia | 21860640 | CNVD |
Vasospasm | 21860640 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:12411400-12413800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr5:12412400-12412600 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
3 | chr5:12413000-12413800 | Enhancers | H1 Cell Line | embryonic stem cell |
4 | chr5:12413000-12414200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
5 | chr5:12413000-12414600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
6 | chr5:12413200-12413600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
7 | chr5:12413200-12414000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
8 | chr5:12413200-12414200 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
9 | chr5:12413200-12414200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
10 | chr5:12413200-12414600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
11 | chr5:12413200-12414800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
12 | chr5:12413400-12414600 | Enhancers | H9 Cell Line | embryonic stem cell |
13 | chr5:12413600-12416000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
14 | chr5:12414600-12415800 | Weak transcription | H9 Cell Line | embryonic stem cell |
15 | chr5:12414800-12417800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
16 | chr5:12416000-12416200 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
17 | chr5:12416200-12416400 | Enhancers | H9 Cell Line | embryonic stem cell |
18 | chr5:12421400-12421800 | Active TSS | Fetal Heart | heart |
19 | chr5:12433400-12433800 | Active TSS | ES-UCSF4 Cell Line | embryonic stem cell |
20 | chr5:12438800-12439400 | Enhancers | Liver | Liver |
21 | chr5:12459200-12460000 | Enhancers | Fetal Brain Female | brain |
22 | chr5:12460200-12461400 | Enhancers | HMEC | breast |
23 | chr5:12462000-12469200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
24 | chr5:12488200-12488400 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
25 | chr5:12488200-12488600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
26 | chr5:12501600-12505600 | Weak transcription | H9 Cell Line | embryonic stem cell |
27 | chr5:12503400-12504600 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
28 | chr5:12504000-12505000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
29 | chr5:12504200-12505000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
30 | chr5:12504200-12507000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
31 | chr5:12504400-12506200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
32 | chr5:12504600-12505000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
33 | chr5:12504600-12507400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
34 | chr5:12505000-12505200 | Flanking Active TSS | iPS-18 Cell Line | embryonic stem cell |
35 | chr5:12505000-12505200 | Flanking Active TSS | iPS-20b Cell Line | embryonic stem cell |
36 | chr5:12505000-12506000 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
37 | chr5:12505200-12505400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
38 | chr5:12505200-12505400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
39 | chr5:12505400-12505600 | Flanking Active TSS | iPS-20b Cell Line | embryonic stem cell |
40 | chr5:12505400-12505800 | Flanking Active TSS | iPS-18 Cell Line | embryonic stem cell |
41 | chr5:12505600-12505800 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
42 | chr5:12505600-12506400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
43 | chr5:12505800-12506000 | Enhancers | H9 Cell Line | embryonic stem cell |
44 | chr5:12505800-12506400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
45 | chr5:12507200-12507400 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
46 | chr5:12507600-12522400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
47 | chr5:12509800-12511800 | Weak transcription | H1 Cell Line | embryonic stem cell |
48 | chr5:12532200-12532800 | ZNF genes & repeats | Pancreas | Pancrea |
49 | chr5:12535400-12535600 | Weak transcription | H9 Cell Line | embryonic stem cell |
50 | chr5:12535600-12535800 | Enhancers | H9 Cell Line | embryonic stem cell |