Variant report

Variant	nsv558596
Chromosome Location	chr12:40413698-40591117
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1804)
CpG islands
(count:795)
Chromatin interactive
region (count:98)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1804 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:40493144-40494325	K562	blood:	n/a	n/a
2	ARID3A	chr12:40501338-40501674	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:40493582-40493796	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:40546628-40546911	K562	blood:	n/a	n/a
5	ARID3A	chr12:40498779-40498912	K562	blood:	n/a	n/a
6	ARID3A	chr12:40498119-40498288	K562	blood:	n/a	n/a
7	ATF1	chr12:40433849-40433966	K562	blood:	n/a	n/a
8	ATF1	chr12:40493267-40493637	K562	blood:	n/a	n/a
9	ATF2	chr12:40561760-40562320	GM12878	blood:	n/a	n/a
10	ATF2	chr12:40511602-40512071	GM12878	blood:	n/a	n/a
11	ATF2	chr12:40586412-40587192	GM12878	blood:	n/a	n/a
12	ATF2	chr12:40586416-40587052	GM12878	blood:	n/a	n/a
13	ATF2	chr12:40561772-40562281	GM12878	blood:	n/a	n/a
14	ATF2	chr12:40511589-40512134	GM12878	blood:	n/a	n/a
15	ATF2	chr12:40562547-40563179	GM12878	blood:	n/a	n/a
16	ATF2	chr12:40530977-40531485	GM12878	blood:	n/a	n/a
17	ATF2	chr12:40562517-40563164	GM12878	blood:	n/a	n/a
18	ATF3	chr12:40499744-40499987	K562	blood:	n/a	chr12:40499976-40499985
19	ATF3	chr12:40501298-40501737	A549	lung:	n/a	n/a
20	BACH1	chr12:40499710-40499852	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr12:40498672-40498821	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr12:40436921-40436927	K562	blood:	n/a	n/a
23	BACH1	chr12:40498670-40498870	K562	blood:	n/a	n/a
24	BATF	chr12:40562718-40563113	GM12878	blood:	n/a	n/a
25	BATF	chr12:40561861-40562191	GM12878	blood:	n/a	chr12:40562020-40562031
26	BATF	chr12:40586494-40587027	GM12878	blood:	n/a	n/a
27	BATF	chr12:40531152-40531342	GM12878	blood:	n/a	n/a
28	BATF	chr12:40511607-40511993	GM12878	blood:	n/a	n/a
29	BATF	chr12:40511643-40512006	GM12878	blood:	n/a	n/a
30	BATF	chr12:40562763-40563054	GM12878	blood:	n/a	n/a
31	BATF	chr12:40561850-40562111	GM12878	blood:	n/a	chr12:40562020-40562031
32	BCL11A	chr12:40562639-40563067	GM12878	blood:	n/a	chr12:40562817-40562826
33	BCL11A	chr12:40561855-40562181	GM12878	blood:	n/a	chr12:40562020-40562029 chr12:40562019-40562028
34	BCL11A	chr12:40586465-40587065	GM12878	blood:	n/a	n/a
35	BCL11A	chr12:40414180-40414488	H1-hESC	embryonic stem cell:	n/a	n/a
36	BCL11A	chr12:40562744-40562991	GM12878	blood:	n/a	chr12:40562817-40562826
37	BCL11A	chr12:40511628-40512004	GM12878	blood:	n/a	n/a
38	BCL11A	chr12:40586564-40587015	GM12878	blood:	n/a	n/a
39	BCL3	chr12:40586697-40586979	GM12878	blood:	n/a	n/a
40	BCLAF1	chr12:40511645-40512023	GM12878	blood:	n/a	n/a
41	BCLAF1	chr12:40562599-40563097	GM12878	blood:	n/a	chr12:40562817-40562826
42	BCLAF1	chr12:40586427-40586922	GM12878	blood:	n/a	n/a
43	BCLAF1	chr12:40511651-40511942	GM12878	blood:	n/a	n/a
44	BCLAF1	chr12:40586463-40586857	GM12878	blood:	n/a	n/a
45	BCLAF1	chr12:40501287-40501707	GM12878	blood:	n/a	chr12:40501449-40501458
46	BHLHE40	chr12:40498650-40500176	HepG2	liver:	n/a	chr12:40499900-40499909
47	BHLHE40	chr12:40493095-40493738	K562	blood:	n/a	chr12:40493388-40493397 chr12:40493382-40493403 chr12:40493387-40493396
48	BHLHE40	chr12:40461069-40461212	K562	blood:	n/a	n/a
49	BHLHE40	chr12:40499733-40500047	A549	lung:	n/a	chr12:40499900-40499909
50	BHLHE40	chr12:40501287-40502380	GM12878	blood:	n/a	chr12:40502192-40502208

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:40499262-40499312	IMR90	lung:	fetal
2	chr12:40427762-40427812	HNPCEpiC	eye:	n/a
3	chr12:40499262-40499312	IMR90	lung:	fetal
4	chr12:40427762-40427812	HNPCEpiC	eye:	n/a
5	chr12:40496213-40496263	BE2_C	brain:	n/a
6	chr12:40427762-40427812	SAEC	small airway:	n/a
7	chr12:40503038-40503088	BJ	skin:	n/a
8	chr12:40499623-40499673	HUVEC	blood vessel:	n/a
9	chr12:40548738-40548788	PrEC	prostate:	n/a
10	chr12:40415007-40415057	HCT-116	colon:	n/a
11	chr12:40496213-40496263	HCT-116	colon:	n/a
12	chr12:40499262-40499312	Jurkat	blood:	n/a
13	chr12:40496213-40496263	NT2-D1	testis:	n/a
14	chr12:40497575-40497625	NHDF-neo	bronchial:	n/a
15	chr12:40500139-40500189	RPTEC	kidney:	n/a
16	chr12:40499811-40499861	PANC-1	pancreas:	n/a
17	chr12:40499623-40499673	GM12891	blood:	n/a
18	chr12:40427762-40427812	T-47D	breast:	n/a
19	chr12:40500139-40500189	AG04449	skin:	fetal
20	chr12:40548738-40548788	T-47D	breast:	n/a
21	chr12:40496213-40496263	GM06990	blood:	n/a
22	chr12:40500139-40500189	Hepatocyte	liver:	n/a
23	chr12:40500619-40500669	PrEC	prostate:	n/a
24	chr12:40503038-40503088	AG04450	lung:	fetal
25	chr12:40500016-40500066	HCM	heart:	n/a
26	chr12:40500619-40500669	SK-N-SH	brain:	n/a
27	chr12:40499623-40499673	A549	lung:	n/a
28	chr12:40500139-40500189	PrEC	prostate:	n/a
29	chr12:40500619-40500669	SAEC	small airway:	n/a
30	chr12:40496213-40496263	NHBE	bronchial:	n/a
31	chr12:40499811-40499861	HRE	kidney:	n/a
32	chr12:40499811-40499861	BJ	skin:	n/a
33	chr12:40499811-40499861	NHBE	bronchial:	n/a
34	chr12:40496213-40496263	IMR90	lung:	fetal
35	chr12:40500619-40500669	HCM	heart:	n/a
36	chr12:40548738-40548788	NT2-D1	testis:	n/a
37	chr12:40496213-40496263	HL-60	blood:	n/a
38	chr12:40499947-40499997	U87	brain:	n/a
39	chr12:40427762-40427812	HCF	heart:	n/a
40	chr12:40496213-40496263	NB4	blood:	n/a
41	chr12:40499947-40499997	NHDF-neo	bronchial:	n/a
42	chr12:40548738-40548788	HepG2	liver:	n/a
43	chr12:40427762-40427812	AG04450	lung:	fetal
44	chr12:40499262-40499312	U87	brain:	n/a
45	chr12:40427762-40427812	BJ	skin:	n/a
46	chr12:40500016-40500066	HIPEpiC	eye:	n/a
47	chr12:40499623-40499673	MCF-7	breast:	n/a
48	chr12:40415007-40415057	HCF	heart:	n/a
49	chr12:40503038-40503088	HMEC	breast:	n/a
50	chr12:40496213-40496263	NHDF-neo	bronchial:	n/a

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:40481016..40484666-chr12:40485206..40488003,4	K562	blood:
2	chr12:40425499..40426450-chr12:40706505..40707111,2	MCF-7	breast:
3	12:40570708-40576790..12:40691796-40694737	K562	blood:
4	chr12:40468895..40470933-chr12:40476626..40479292,2	K562	blood:
5	chr12:40442565..40445105-chr12:40454230..40455895,2	K562	blood:
6	chr12:40536767..40538493-chr12:40545018..40546756,2	K562	blood:
7	chr12:40427544..40429854-chr12:40484526..40486904,2	MCF-7	breast:
8	chr12:40459470..40461865-chr12:40485100..40487322,2	MCF-7	breast:
9	chr12:40404217..40405558-chr12:40500388..40503110,15	MCF-7	breast:
10	12:40491106-40496076..12:40703633-40711447	GM12878	blood:
11	12:40545640-40549031..12:40691796-40694737	GM12878	blood:
12	chr12:40428243..40430877-chr12:40432067..40435027,3	K562	blood:
13	chr1:169315069..169315689-chr12:40537506..40538182,2	MCF-7	breast:
14	12:40441273-40454218..12:40703633-40711447	GM12878	blood:
15	chr12:40455812..40458889-chr12:40497320..40500234,3	K562	blood:
16	chr12:40526853..40529105-chr12:40530805..40532717,2	MCF-7	breast:
17	chr12:40158518..40159407-chr12:40501012..40501936,2	K562	blood:
18	chr12:40433481..40436238-chr12:40442156..40444091,2	MCF-7	breast:
19	chr12:40454480..40456141-chr12:40458751..40460904,2	K562	blood:
20	chr12:40476970..40478917-chr12:40480066..40482046,2	MCF-7	breast:
21	chr12:40434942..40437888-chr12:40438406..40442021,3	MCF-7	breast:
22	chr12:40468895..40470933-chr12:40476626..40479292,2	K562	blood:
23	chr12:40483377..40487149-chr12:40498015..40500549,4	K562	blood:
24	chr11:62607295..62609623-chr12:40497021..40499693,2	MCF-7	breast:
25	chr12:40546236..40547437-chr12:40706403..40707441,12	MCF-7	breast:
26	chr12:40424834..40427522-chr12:40498279..40501048,3	MCF-7	breast:
27	chr12:40520984..40522789-chr12:40525869..40527665,2	K562	blood:
28	chr12:40454480..40456141-chr12:40458751..40460904,2	K562	blood:
29	12:40491106-40496076..12:40793507-40812339	GM12878	blood:
30	12:40545640-40549031..12:40703633-40711447	GM12878	blood:
31	chr12:40484990..40487793-chr12:40489552..40494427,5	K562	blood:
32	12:40436818-40441273..12:40703633-40711447	GM12878	blood:
33	12:40525880-40532672..12:40703633-40711447	GM12878	blood:
34	12:40583667-40584606..12:40703633-40711447	GM12878	blood:
35	chr10:125795379..125796137-chr12:40561478..40561982,2	MCF-7	breast:
36	chr12:40428243..40430877-chr12:40432067..40435027,3	K562	blood:
37	chr12:40485743..40487373-chr12:40492578..40494956,2	MCF-7	breast:
38	chr12:40490476..40493395-chr12:40497696..40500729,3	MCF-7	breast:
39	chr12:40158520..40159448-chr12:40546284..40547792,5	MCF-7	breast:
40	chr12:40434942..40437888-chr12:40438406..40442021,3	MCF-7	breast:
41	chr12:40445246..40446962-chr12:40448695..40451443,2	MCF-7	breast:
42	chr12:40413403..40416172-chr12:40500145..40501731,2	K562	blood:
43	chr12:40546325..40546967-chr12:40662693..40663558,3	MCF-7	breast:
44	chr12:40471822..40473887-chr12:40503085..40505946,2	K562	blood:
45	chr12:40481016..40484666-chr12:40485206..40488003,4	K562	blood:
46	chr12:40485743..40487373-chr12:40492578..40494956,2	MCF-7	breast:
47	chr12:40401380..40404194-chr12:40458458..40460119,2	K562	blood:
48	chr12:40543659..40545848-chr12:40705219..40707677,2	MCF-7	breast:
49	chr12:40471822..40473887-chr12:40503085..40505946,2	K562	blood:
50	chr12:40480723..40487168-chr12:40489659..40495663,7	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRK2-1	chr12:40550041-40550145	XLOC_009712
2	lnc-SLC2A13-1	chr12:40545831-40545945	XLOC_010052
3	lnc-C12orf40-2	chr12:40444807-40444921	l_630_chr12:40444222-40445642_testes
4	lnc-SLC2A13-1	chr12:40537621-40538106	XLOC_010052
5	lnc-LRRK2-1	chr12:40561049-40561678	NONHSAT027720
6	lnc-SLC2A13-1	chr12:40551656-40551857	XLOC_010052
7	lnc-SLC2A13-2	chr12:40584055-40584196	XLOC_010053
8	lnc-SLC2A13-1	chr12:40552238-40552325	XLOC_010052
9	lnc-SLC2A13-2	chr12:40582885-40583007	XLOC_010053
10	lnc-SLC2A13-2	chr12:40579811-40579985	XLOC_010053
11	lnc-SLC2A13-1	chr12:40537983-40538106	XLOC_010052
12	lnc-LRRK2-1	chr12:40560054-40560152	XLOC_009712
13	lnc-LRRK2-1	chr12:40549559-40550164	NONHSAT027720
14	lnc-LRRK2-1	chr12:40561050-40561509	XLOC_009712
15	lnc-SLC2A13-1	chr12:40534728-40536678	ENSG00000260943.1
16	lnc-SLC2A13-1	chr12:40551656-40551857	XLOC_010052
17	lnc-SLC2A13-1	chr12:40545831-40545945	XLOC_010052
18	lnc-SLC2A13-1	chr12:40534259-40536436	XLOC_010052
19	lnc-LRRK2-1	chr12:40560053-40560152	NONHSAT027720
20	lnc-C12orf40-2	chr12:40445389-40445642	l_630_chr12:40444222-40445642_testes
21	lnc-LRRK2-1	chr12:40561050-40561414	XLOC_009712
22	lnc-SLC2A13-1	chr12:40552238-40552325	XLOC_010052
23	lnc-C12orf40-2	chr12:40444223-40444350	l_630_chr12:40444222-40445642_testes

No data

Variant related genes	Relation type
RPL30P13	TF binding region
LRRK2	TF binding region
ENSG00000223914	TF binding region
ENSG00000260943	TF binding region
SLC2A13	TF binding region
RPL30P13	CpG island
LRRK2	CpG island
ENSG00000223914	CpG island
ENSG00000260943	CpG island
SLC2A13	CpG island
ENSG00000229014	chromatin interactions
ENSG00000252974	chromatin interactions
ENSG00000205592	chromatin interactions
ENSG00000188906	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000151229	chromatin interactions
ENSG00000139116	chromatin interactions
BRMS1L	miRNA target sites
BRWD1	miRNA target sites
BRSK1	miRNA target sites
SDCBP	miRNA target sites
NR3C1	miRNA target sites

Extended variants
information (count: 5979 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:5979 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2242367	chr12:40413698-40413699	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550540390	chr12:40413758-40413759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141652963	chr12:40413779-40413780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28370665	chr12:40413813-40413814	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs147511929	chr12:40413819-40413820	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs530129562	chr12:40413839-40413840	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs185679723	chr12:40413887-40413888	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs200940999	chr12:40413948-40413949	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs377525822	chr12:40413960-40413961	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534376902	chr12:40413972-40413973	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs190929591	chr12:40414058-40414059	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs571146402	chr12:40414062-40414063	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs551739	chr12:40414075-40414076	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs34177772	chr12:40414081-40414082	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs140136989	chr12:40414095-40414096	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs28370666	chr12:40414116-40414117	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs28370781	chr12:40414175-40414176	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183118702	chr12:40414178-40414179	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs545706215	chr12:40414181-40414182	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs185166914	chr12:40414191-40414192	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs564863936	chr12:40414202-40414203	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs189633989	chr12:40414206-40414207	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs532271626	chr12:40414217-40414218	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs544239719	chr12:40414272-40414273	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs28370667	chr12:40414298-40414299	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563856878	chr12:40414367-40414368	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs183413586	chr12:40414387-40414388	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs548416933	chr12:40414424-40414425	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187950245	chr12:40414447-40414448	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562834512	chr12:40414459-40414460	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533150050	chr12:40414481-40414482	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34448832	chr12:40414486-40414487	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs489044	chr12:40414496-40414497	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552785046	chr12:40414530-40414531	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571199814	chr12:40414557-40414558	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183454971	chr12:40414564-40414565	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550448501	chr12:40414599-40414600	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113528438	chr12:40414611-40414612	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73263617	chr12:40414612-40414613	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117798013	chr12:40414626-40414627	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7969495	chr12:40414631-40414632	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs572873652	chr12:40414633-40414634	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187392345	chr12:40414640-40414641	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575652850	chr12:40414722-40414723	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150503181	chr12:40414723-40414724	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397960161	chr12:40414734-40414735	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558322071	chr12:40414759-40414760	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549086269	chr12:40414790-40414791	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567132082	chr12:40414801-40414802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112181551	chr12:40414829-40414830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1614 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40394400-40448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:40402200-40425600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:40405400-40445200	Weak transcription	K562	blood
4	chr12:40405600-40417000	Weak transcription	Lung	lung
5	chr12:40405800-40414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:40405800-40421000	Weak transcription	Left Ventricle	heart
7	chr12:40405800-40425800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:40405800-40426000	Weak transcription	Pancreas	Pancrea
9	chr12:40406000-40423200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:40406600-40423200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:40406600-40425800	Weak transcription	Liver	Liver
12	chr12:40407800-40426000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:40409600-40414000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:40409600-40426000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:40410000-40417200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:40410000-40422200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:40411000-40417000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:40411000-40418800	Weak transcription	Aorta	Aorta
19	chr12:40411400-40416800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:40411400-40428200	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:40411400-40428600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:40411600-40416800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:40411600-40418800	Weak transcription	Right Atrium	heart
24	chr12:40411600-40422000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:40411600-40424000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:40411600-40425600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:40411600-40426200	Weak transcription	Esophagus	oesophagus
28	chr12:40411800-40425200	Weak transcription	Fetal Intestine Small	intestine
29	chr12:40411800-40425600	Weak transcription	Fetal Intestine Large	intestine
30	chr12:40411800-40425600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:40411800-40426400	Weak transcription	Right Ventricle	heart
32	chr12:40412400-40417200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:40412400-40417400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:40412600-40417000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr12:40412800-40413800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:40412800-40414400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr12:40412800-40415800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr12:40412800-40417200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:40413000-40414200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr12:40413000-40415200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr12:40413000-40416000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr12:40413600-40417000	Weak transcription	Brain Germinal Matrix	brain
43	chr12:40413800-40414200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr12:40414000-40414400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:40414200-40414600	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr12:40414200-40417000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:40414400-40414800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:40414400-40415200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:40414600-40414800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr12:40414800-40415000	Enhancers	H1 Cell Line	embryonic stem cell

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