Variant report

Variant	esv1846566
Chromosome Location	chr12:40498683-40527395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:40498779-40498912	K562	blood:	n/a	n/a
2	ARID3A	chr12:40501338-40501674	HepG2	liver:	n/a	n/a
3	ATF2	chr12:40511602-40512071	GM12878	blood:	n/a	n/a
4	ATF2	chr12:40511589-40512134	GM12878	blood:	n/a	n/a
5	ATF3	chr12:40499744-40499987	K562	blood:	n/a	chr12:40499976-40499985
6	ATF3	chr12:40501298-40501737	A549	lung:	n/a	n/a
7	BACH1	chr12:40498670-40498870	K562	blood:	n/a	n/a
8	BACH1	chr12:40499710-40499852	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr12:40498672-40498821	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr12:40511607-40511993	GM12878	blood:	n/a	n/a
11	BATF	chr12:40511643-40512006	GM12878	blood:	n/a	n/a
12	BCL11A	chr12:40511628-40512004	GM12878	blood:	n/a	n/a
13	BCLAF1	chr12:40501287-40501707	GM12878	blood:	n/a	chr12:40501449-40501458
14	BCLAF1	chr12:40511651-40511942	GM12878	blood:	n/a	n/a
15	BCLAF1	chr12:40511645-40512023	GM12878	blood:	n/a	n/a
16	BHLHE40	chr12:40499733-40500047	A549	lung:	n/a	chr12:40499900-40499909
17	BHLHE40	chr12:40501287-40502380	GM12878	blood:	n/a	chr12:40502192-40502208
18	BHLHE40	chr12:40499729-40500060	HepG2	liver:	n/a	chr12:40499900-40499909
19	BHLHE40	chr12:40499148-40500152	GM12878	blood:	n/a	chr12:40499900-40499909
20	BHLHE40	chr12:40498581-40500322	K562	blood:	n/a	chr12:40499900-40499909
21	BHLHE40	chr12:40498650-40500176	HepG2	liver:	n/a	chr12:40499900-40499909
22	CBX3	chr12:40501280-40501697	K562	blood:	n/a	n/a
23	CBX3	chr12:40498540-40498991	K562	blood:	n/a	n/a
24	CCNT2	chr12:40498953-40500070	K562	blood:	n/a	n/a
25	CEBPB	chr12:40517338-40517663	Hela-S3	cervix:	n/a	chr12:40517645-40517657
26	CEBPB	chr12:40499734-40500440	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr12:40501016-40501656	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr12:40517339-40517624	A549	lung:	n/a	n/a
29	CEBPB	chr12:40517397-40517597	HepG2	liver:	n/a	n/a
30	CEBPD	chr12:40501231-40501696	K562	blood:	n/a	n/a
31	CEBPD	chr12:40499709-40499945	HepG2	liver:	n/a	n/a
32	CHD1	chr12:40499382-40499523	GM12878	blood:	n/a	n/a
33	CHD1	chr12:40499504-40499654	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr12:40499108-40499848	K562	blood:	n/a	n/a
35	CHD2	chr12:40498723-40498889	K562	blood:	n/a	chr12:40498850-40498860
36	CHD2	chr12:40499657-40499819	HepG2	liver:	n/a	n/a
37	CHD2	chr12:40498701-40500266	Hela-S3	cervix:	n/a	chr12:40498850-40498860 chr12:40499881-40499891 chr12:40499847-40499857
38	CHD2	chr12:40500019-40500213	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr12:40498606-40499137	GM12878	blood:	n/a	chr12:40498850-40498860
40	CHD2	chr12:40499445-40499943	GM12878	blood:	n/a	chr12:40499881-40499891 chr12:40499847-40499857
41	CREB1	chr12:40499023-40499614	A549	lung:	n/a	n/a
42	CREB1	chr12:40499618-40500115	A549	lung:	n/a	n/a
43	CREB1	chr12:40499005-40500250	HepG2	liver:	n/a	n/a
44	CTCF	chr12:40500961-40500997	GM12892	blood:	n/a	n/a
45	CTCF	chr12:40499560-40499710	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr12:40501440-40501590	GM12869	blood:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
47	CTCF	chr12:40501411-40501657	LNCaP	prostate:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
48	CTCF	chr12:40500921-40501003	Fibrobl	skin:	n/a	n/a
49	CTCF	chr12:40501232-40501786	HCT-116	colon:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
50	CTCF	chr12:40501284-40501709	T-47D	breast:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:40500619-40500669	SK-N-MC	brain:	n/a
2	chr12:40499262-40499312	HIPEpiC	eye:	n/a
3	chr12:40500619-40500669	SK-N-MC	brain:	n/a
4	chr12:40499262-40499312	HIPEpiC	eye:	n/a
5	chr12:40499811-40499861	HIPEpiC	eye:	n/a
6	chr12:40500139-40500189	IMR90	lung:	fetal
7	chr12:40499262-40499312	NT2-D1	testis:	n/a
8	chr12:40500619-40500669	HEK293	kidney:	embryo
9	chr12:40499262-40499312	ProgFib	skin:	n/a
10	chr12:40500619-40500669	MCF10A-Er-Src	breast:	n/a
11	chr12:40503038-40503088	GM19239	blood:	n/a
12	chr12:40500619-40500669	GM12878	blood:	n/a
13	chr12:40500016-40500066	Hela-S3	cervix:	n/a
14	chr12:40500619-40500669	HCT-116	colon:	n/a
15	chr12:40499262-40499312	MCF10A-Er-Src	breast:	n/a
16	chr12:40499811-40499861	RPTEC	kidney:	n/a
17	chr12:40499623-40499673	HEK293	kidney:	embryo
18	chr12:40499623-40499673	HPAEpiC	pulmonary alveolar:	n/a
19	chr12:40499811-40499861	HUVEC	blood vessel:	n/a
20	chr12:40503038-40503088	GM12891	blood:	n/a
21	chr12:40499947-40499997	Caco-2	colon:	n/a
22	chr12:40499262-40499312	GM12892	blood:	n/a
23	chr12:40503038-40503088	H1-hESC	embryonic stem cell:	embryo
24	chr12:40503038-40503088	HAEpiC	amniotic membrane:	n/a
25	chr12:40499811-40499861	PANC-1	pancreas:	n/a
26	chr12:40500619-40500669	IMR90	lung:	fetal
27	chr12:40500139-40500189	GM12892	blood:	n/a
28	chr12:40500016-40500066	HRE	kidney:	n/a
29	chr12:40500139-40500189	SK-N-MC	brain:	n/a
30	chr12:40499811-40499861	MCF-7	breast:	n/a
31	chr12:40499811-40499861	SKMC	muscle:	n/a
32	chr12:40499623-40499673	ovcar-3	ovarian:	n/a
33	chr12:40500016-40500066	SK-N-SH	brain:	n/a
34	chr12:40499262-40499312	SK-N-SH_RA	brain:	n/a
35	chr12:40500016-40500066	T-47D	breast:	n/a
36	chr12:40503038-40503088	HRPEpiC	eye:	n/a
37	chr12:40499947-40499997	HIPEpiC	eye:	n/a
38	chr12:40500016-40500066	GM12891	blood:	n/a
39	chr12:40500016-40500066	NHDF-neo	bronchial:	n/a
40	chr12:40499811-40499861	HPAEpiC	pulmonary alveolar:	n/a
41	chr12:40499947-40499997	HRE	kidney:	n/a
42	chr12:40499811-40499861	Caco-2	colon:	n/a
43	chr12:40499811-40499861	HMEC	breast:	n/a
44	chr12:40500139-40500189	HNPCEpiC	eye:	n/a
45	chr12:40499811-40499861	SK-N-SH	brain:	n/a
46	chr12:40500139-40500189	PFSK-1	brain:	n/a
47	chr12:40503038-40503088	AG04450	lung:	fetal
48	chr12:40499811-40499861	PrEC	prostate:	n/a
49	chr12:40500016-40500066	HUVEC	blood vessel:	n/a
50	chr12:40499262-40499312	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:40471822..40473887-chr12:40503085..40505946,2	K562	blood:
2	12:40517820-40521124..12:40703633-40711447	GM12878	blood:
3	chr12:40404779..40405544-chr12:40501079..40501769,2	K562	blood:
4	chr12:40526853..40529105-chr12:40530805..40532717,2	MCF-7	breast:
5	12:40525880-40532672..12:40703633-40711447	GM12878	blood:
6	chr12:40404668..40405271-chr12:40503732..40504617,2	MCF-7	breast:
7	chr12:40425798..40426494-chr12:40501097..40501912,2	MCF-7	breast:
8	chr12:39835235..39837376-chr12:40497652..40499874,2	K562	blood:
9	chr12:40158518..40159407-chr12:40501012..40501936,2	K562	blood:
10	chr12:40520984..40522789-chr12:40525869..40527665,2	K562	blood:
11	chr12:40404217..40405558-chr12:40500388..40503110,15	MCF-7	breast:
12	chr12:40520984..40522789-chr12:40525869..40527665,2	K562	blood:
13	chr12:40413403..40416172-chr12:40500145..40501731,2	K562	blood:
14	chr12:40494859..40496427-chr12:40496570..40499467,2	MCF-7	breast:
15	chr12:40158505..40159798-chr12:40501059..40502327,6	MCF-7	breast:
16	chr11:62607295..62609623-chr12:40497021..40499693,2	MCF-7	breast:

Variant related genes	Relation type
SLC2A13	TF binding region
SLC2A13	CpG island
ENSG00000133316	chromatin interactions
ENSG00000252974	chromatin interactions
ENSG00000188906	chromatin interactions
ENSG00000139116	chromatin interactions

Extended variants
information (count: 722 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:722 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17442511	chr12:40498683-40498684	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536656616	chr12:40498692-40498693	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs150524773	chr12:40498790-40498791	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs529201127	chr12:40498795-40498796	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs567542779	chr12:40498832-40498833	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs534646161	chr12:40498833-40498834	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs553110606	chr12:40498838-40498839	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs577935164	chr12:40498843-40498844	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs540328016	chr12:40498856-40498857	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs539103421	chr12:40498858-40498859	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs557502211	chr12:40498859-40498860	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs575665257	chr12:40498870-40498871	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs543041889	chr12:40498952-40498953	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs561721323	chr12:40498959-40498960	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs200778835	chr12:40499062-40499063	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs573465149	chr12:40499068-40499069	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs12815421	chr12:40499081-40499082	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs186341127	chr12:40499132-40499133	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs565446090	chr12:40499143-40499144	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs369644372	chr12:40499166-40499167	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs551021028	chr12:40499191-40499192	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs372872950	chr12:40499194-40499195	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs35914574	chr12:40499200-40499201	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs36065984	chr12:40499215-40499216	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs377169528	chr12:40499280-40499281	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs370310828	chr12:40499292-40499293	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs563045458	chr12:40499320-40499321	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs7305377	chr12:40499347-40499348	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs375372405	chr12:40499368-40499369	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs199796127	chr12:40499374-40499375	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs534891078	chr12:40499392-40499393	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs201652147	chr12:40499401-40499402	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs35939613	chr12:40499410-40499411	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs571430072	chr12:40499428-40499429	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs538841712	chr12:40499444-40499445	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs557242708	chr12:40499462-40499463	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs34165158	chr12:40499479-40499480	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs34989307	chr12:40499482-40499483	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs35486972	chr12:40499497-40499498	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs139518863	chr12:40499594-40499595	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs34919942	chr12:40499621-40499622	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs536379760	chr12:40499624-40499625	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs7305766	chr12:40499639-40499640	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs34759276	chr12:40499729-40499730	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs34244190	chr12:40499739-40499740	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs35857045	chr12:40499742-40499743	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs573176212	chr12:40499747-40499748	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs35178567	chr12:40499748-40499749	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs540886340	chr12:40499768-40499769	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs35966761	chr12:40499800-40499801	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:525 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40496800-40499000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
2	chr12:40496800-40500400	Active TSS	Stomach Smooth Muscle	stomach
3	chr12:40496800-40501600	Active TSS	Brain Cingulate Gyrus	brain
4	chr12:40496800-40501600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:40496800-40501600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:40497000-40498800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:40497000-40498800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:40497000-40498800	Flanking Active TSS	Hela-S3	cervix
9	chr12:40497000-40499000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:40497000-40500200	Active TSS	Brain Angular Gyrus	brain
11	chr12:40497000-40501600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr12:40497000-40501600	Active TSS	Fetal Kidney	kidney
13	chr12:40497200-40498800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr12:40497200-40499000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr12:40497200-40502200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:40497400-40498800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr12:40497400-40498800	Enhancers	Fetal Heart	heart
18	chr12:40497400-40499000	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr12:40497400-40500000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:40497400-40501600	Active TSS	Right Atrium	heart
21	chr12:40497600-40499000	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr12:40497600-40500400	Active TSS	Fetal Brain Female	brain
23	chr12:40497800-40498800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:40497800-40498800	Flanking Active TSS	HepG2	liver
25	chr12:40497800-40499000	Enhancers	Spleen	Spleen
26	chr12:40497800-40499200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:40497800-40500200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:40497800-40500400	Active TSS	Brain Hippocampus Middle	brain
29	chr12:40497800-40500600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr12:40497800-40501400	Active TSS	Brain Substantia Nigra	brain
31	chr12:40497800-40501400	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr12:40498000-40498800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:40498000-40498800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:40498000-40498800	Active TSS	Brain Germinal Matrix	brain
35	chr12:40498000-40499000	Flanking Active TSS	Osteobl	bone
36	chr12:40498000-40499200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr12:40498000-40499600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr12:40498000-40500000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:40498000-40500200	Active TSS	H9 Cell Line	embryonic stem cell
40	chr12:40498000-40500400	Active TSS	Colon Smooth Muscle	Colon
41	chr12:40498000-40500800	Active TSS	Rectal Smooth Muscle	rectum
42	chr12:40498000-40501600	Active TSS	Ovary	ovary
43	chr12:40498200-40499000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr12:40498200-40499000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr12:40498200-40500000	Active TSS	Fetal Intestine Large	intestine
46	chr12:40498200-40500200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:40498200-40500200	Active TSS	A549	lung
48	chr12:40498200-40501800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr12:40498200-40501800	Active TSS	NHLF	lung
50	chr12:40498400-40498800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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