Variant report

Variant	esv1800449
Chromosome Location	chr12:121341120-121342240
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	chr12:121342186-121342413	HepG2	liver:	n/a	n/a
2	ATF3	chr12:121342012-121342661	A549	lung:	n/a	chr12:121342169-121342178 chr12:121342189-121342209 chr12:121342219-121342239 chr12:121342219-121342228
3	ATF3	chr12:121342014-121342413	HepG2	liver:	n/a	chr12:121342169-121342178 chr12:121342189-121342209 chr12:121342219-121342239 chr12:121342219-121342228
4	ATF3	chr12:121342086-121342301	GM12878	blood:	n/a	chr12:121342169-121342178 chr12:121342189-121342209 chr12:121342219-121342239 chr12:121342219-121342228
5	ATF3	chr12:121342059-121342424	K562	blood:	n/a	chr12:121342169-121342178 chr12:121342189-121342209 chr12:121342219-121342239 chr12:121342219-121342228
6	ATF3	chr12:121341947-121342470	H1-hESC	embryonic stem cell:	n/a	chr12:121342169-121342178 chr12:121342189-121342209 chr12:121342219-121342239 chr12:121342219-121342228
7	ATF3	chr12:121342074-121342431	H1-hESC	embryonic stem cell:	n/a	chr12:121342169-121342178 chr12:121342189-121342209 chr12:121342219-121342239 chr12:121342219-121342228
8	ATF3	chr12:121342060-121342496	HepG2	liver:	n/a	chr12:121342169-121342178 chr12:121342189-121342209 chr12:121342219-121342239 chr12:121342219-121342228
9	ATF3	chr12:121342042-121342530	GM12878	blood:	n/a	chr12:121342169-121342178 chr12:121342189-121342209 chr12:121342219-121342239 chr12:121342219-121342228
10	ATF3	chr12:121342008-121342405	K562	blood:	n/a	chr12:121342169-121342178 chr12:121342189-121342209 chr12:121342219-121342239 chr12:121342219-121342228
11	BACH1	chr12:121341177-121341437	H1-hESC	embryonic stem cell:	n/a	n/a
12	BHLHE40	chr12:121342103-121342318	HepG2	liver:	n/a	chr12:121342198-121342211 chr12:121342200-121342209 chr12:121342217-121342230 chr12:121342200-121342209 chr12:121342218-121342227 chr12:121342199-121342208 chr12:121342201-121342210 chr12:121342194-121342215 chr12:121342213-121342234
13	BHLHE40	chr12:121342059-121342389	A549	lung:	n/a	chr12:121342198-121342211 chr12:121342200-121342209 chr12:121342217-121342230 chr12:121342200-121342209 chr12:121342218-121342227 chr12:121342199-121342208 chr12:121342326-121342342 chr12:121342201-121342210 chr12:121342194-121342215 chr12:121342213-121342234
14	BHLHE40	chr12:121341176-121341570	GM12878	blood:	n/a	n/a
15	BHLHE40	chr12:121341996-121342663	K562	blood:	n/a	chr12:121342198-121342211 chr12:121342200-121342209 chr12:121342217-121342230 chr12:121342200-121342209 chr12:121342218-121342227 chr12:121342199-121342208 chr12:121342326-121342342 chr12:121342201-121342210 chr12:121342194-121342215 chr12:121342213-121342234
16	BHLHE40	chr12:121342008-121342596	GM12878	blood:	n/a	chr12:121342198-121342211 chr12:121342200-121342209 chr12:121342217-121342230 chr12:121342200-121342209 chr12:121342218-121342227 chr12:121342199-121342208 chr12:121342326-121342342 chr12:121342201-121342210 chr12:121342194-121342215 chr12:121342213-121342234
17	BHLHE40	chr12:121341800-121342724	HepG2	liver:	n/a	chr12:121342198-121342211 chr12:121341911-121341927 chr12:121342200-121342209 chr12:121342217-121342230 chr12:121341902-121341918 chr12:121341908-121341924 chr12:121341919-121341935 chr12:121342200-121342209 chr12:121342218-121342227 chr12:121342199-121342208 chr12:121342326-121342342 chr12:121341907-121341923 chr12:121341951-121341967 chr12:121342201-121342210 chr12:121342194-121342215 chr12:121342213-121342234
18	BHLHE40	chr12:121341759-121341784	K562	blood:	n/a	n/a
19	BHLHE40	chr12:121342084-121342410	HepG2	liver:	n/a	chr12:121342198-121342211 chr12:121342200-121342209 chr12:121342217-121342230 chr12:121342200-121342209 chr12:121342218-121342227 chr12:121342199-121342208 chr12:121342326-121342342 chr12:121342201-121342210 chr12:121342194-121342215 chr12:121342213-121342234
20	BRCA1	chr12:121341270-121341314	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr12:121342109-121342323	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr12:121342129-121342403	HepG2	liver:	n/a	n/a
23	BRCA1	chr12:121341420-121341445	HepG2	liver:	n/a	n/a
24	BRCA1	chr12:121342210-121342373	GM12878	blood:	n/a	n/a
25	CBX3	chr12:121342027-121342954	K562	blood:	n/a	n/a
26	CCNT2	chr12:121341644-121342532	K562	blood:	n/a	chr12:121342234-121342243 chr12:121342169-121342178 chr12:121342163-121342172
27	CEBPB	chr12:121342118-121342306	Hela-S3	cervix:	n/a	n/a
28	CEBPD	chr12:121342053-121342630	K562	blood:	n/a	n/a
29	CEBPD	chr12:121341902-121342399	HepG2	liver:	n/a	n/a
30	CEBPD	chr12:121342025-121342314	HepG2	liver:	n/a	n/a
31	CHD1	chr12:121341195-121341317	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr12:121341549-121341864	GM12878	blood:	n/a	n/a
33	CHD2	chr12:121341948-121342434	Hela-S3	cervix:	n/a	chr12:121342232-121342242
34	CHD2	chr12:121341285-121341472	K562	blood:	n/a	n/a
35	CHD2	chr12:121342111-121342654	K562	blood:	n/a	chr12:121342232-121342242
36	CHD2	chr12:121342114-121342600	HepG2	liver:	n/a	chr12:121342232-121342242
37	CHD2	chr12:121342025-121342547	GM12878	blood:	n/a	chr12:121342232-121342242
38	CHD2	chr12:121341216-121341587	GM12878	blood:	n/a	n/a
39	CHD2	chr12:121341283-121341610	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr12:121342155-121342607	H1-hESC	embryonic stem cell:	n/a	chr12:121342232-121342242
41	CREB1	chr12:121341899-121342588	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr12:121341075-121342607	GM12878	blood:	n/a	n/a
43	CREB1	chr12:121341159-121341507	A549	lung:	n/a	n/a
44	CREB1	chr12:121341865-121342501	A549	lung:	n/a	n/a
45	CREB1	chr12:121341854-121342685	HepG2	liver:	n/a	n/a
46	CTCF	chr12:121342060-121342210	BJ	skin:	n/a	n/a
47	CTCF	chr12:121341455-121341556	GM12892	blood:	n/a	chr12:121341492-121341505
48	CTCF	chr12:121342013-121342196	MCF-7	breast:	n/a	n/a
49	CTCF	chr12:121342080-121342230	K562	blood:	n/a	n/a
50	CTCF	chr12:121342038-121342182	Medullo	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121341616-121341666	HL-60	blood:	n/a
2	chr12:121341616-121341666	HL-60	blood:	n/a
3	chr12:121342197-121342247	PFSK-1	brain:	n/a
4	chr12:121341782-121341832	NH-A	brain:	n/a
5	chr12:121341326-121341376	HCPEpiC	choroid plexus:	n/a
6	chr12:121341782-121341832	HCT-116	colon:	n/a
7	chr12:121342197-121342247	A549	lung:	n/a
8	chr12:121341616-121341666	IMR90	lung:	fetal
9	chr12:121342197-121342247	NH-A	brain:	n/a
10	chr12:121341616-121341666	GM19239	blood:	n/a
11	chr12:121341782-121341832	HEK293	kidney:	embryo
12	chr12:121341782-121341832	HRE	kidney:	n/a
13	chr12:121341782-121341832	HNPCEpiC	eye:	n/a
14	chr12:121341326-121341376	BJ	skin:	n/a
15	chr12:121341326-121341376	HCT-116	colon:	n/a
16	chr12:121342197-121342247	Jurkat	blood:	n/a
17	chr12:121342197-121342247	Hela-S3	cervix:	n/a
18	chr12:121342197-121342247	NB4	blood:	n/a
19	chr12:121341782-121341832	MCF10A-Er-Src	breast:	n/a
20	chr12:121341326-121341376	NHBE	bronchial:	n/a
21	chr12:121341782-121341832	PrEC	prostate:	n/a
22	chr12:121341326-121341376	CMK	blood:	n/a
23	chr12:121341616-121341666	SKMC	muscle:	n/a
24	chr12:121342197-121342247	PrEC	prostate:	n/a
25	chr12:121341616-121341666	ECC-1	luminal epithelium:	n/a
26	chr12:121342197-121342247	K562	blood:	n/a
27	chr12:121341782-121341832	SK-N-SH_RA	brain:	n/a
28	chr12:121342197-121342247	H1-hESC	embryonic stem cell:	embryo
29	chr12:121341782-121341832	ovcar-3	ovarian:	n/a
30	chr12:121342197-121342247	GM12891	blood:	n/a
31	chr12:121342197-121342247	HEEpiC	esophagus:	n/a
32	chr12:121341782-121341832	NB4	blood:	n/a
33	chr12:121341326-121341376	HEEpiC	esophagus:	n/a
34	chr12:121341616-121341666	ovcar-3	ovarian:	n/a
35	chr12:121341326-121341376	ECC-1	luminal epithelium:	n/a
36	chr12:121341782-121341832	AG09309	skin:	n/a
37	chr12:121341326-121341376	NHDF-neo	bronchial:	n/a
38	chr12:121342197-121342247	AG09319	gingival:	n/a
39	chr12:121341616-121341666	SK-N-MC	brain:	n/a
40	chr12:121342197-121342247	BE2_C	brain:	n/a
41	chr12:121341616-121341666	HCM	heart:	n/a
42	chr12:121341616-121341666	HIPEpiC	eye:	n/a
43	chr12:121342197-121342247	ProgFib	skin:	n/a
44	chr12:121342197-121342247	U87	brain:	n/a
45	chr12:121341782-121341832	SKMC	muscle:	n/a
46	chr12:121341616-121341666	MCF-7	breast:	n/a
47	chr12:121341616-121341666	MCF10A-Er-Src	breast:	n/a
48	chr12:121341782-121341832	SK-N-SH	brain:	n/a
49	chr12:121341326-121341376	BE2_C	brain:	n/a
50	chr12:121341782-121341832	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121341724..121342252-chr6:13615154..13615782,2	Hela-S3	cervix:
2	chr12:121342121..121344461-chr12:121350958..121352582,2	K562	blood:

Variant related genes	Relation type
SPPL3	TF binding region
SPPL3	CpG island
ENSG00000225921	chromatin interactions
ENSG00000261071	chromatin interactions
ENSG00000231313	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545300771	chr12:121341138-121341139	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs142765995	chr12:121341149-121341150	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184601122	chr12:121341155-121341156	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs565158627	chr12:121341158-121341159	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200351307	chr12:121341164-121341165	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs71076683	chr12:121341165-121341166	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs66511068	chr12:121341166-121341167	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188740117	chr12:121341171-121341172	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs541134794	chr12:121341193-121341194	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs561001457	chr12:121341196-121341197	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs530087844	chr12:121341197-121341198	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs376240740	chr12:121341199-121341200	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs550139947	chr12:121341209-121341210	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs563470344	chr12:121341355-121341356	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs532416527	chr12:121341363-121341364	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs552162922	chr12:121341373-121341374	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs74416604	chr12:121341495-121341496	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs534771630	chr12:121341507-121341508	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs116203952	chr12:121341516-121341517	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs568149919	chr12:121341532-121341533	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs528674351	chr12:121341535-121341536	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs35912287	chr12:121341536-121341537	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs71076684	chr12:121341545-121341546	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs536678840	chr12:121341574-121341575	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs141191125	chr12:121341577-121341578	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs576735074	chr12:121341580-121341581	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs113043553	chr12:121341583-121341584	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs7966217	chr12:121341586-121341587	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs373570995	chr12:121341640-121341641	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs11610731	chr12:121341736-121341737	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs558783285	chr12:121341756-121341757	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs7966446	chr12:121341762-121341763	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
33	rs567539889	chr12:121341778-121341779	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs11555971	chr12:121341805-121341806	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs541223680	chr12:121341814-121341815	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs2686458	chr12:121341849-121341850	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs11555970	chr12:121341866-121341867	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs2393716	chr12:121341933-121341934	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs543480285	chr12:121341955-121341956	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs188499441	chr12:121342031-121342032	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs532372288	chr12:121342058-121342059	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs552510611	chr12:121342067-121342068	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs904628	chr12:121342084-121342085	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs537885659	chr12:121342141-121342142	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs192784397	chr12:121342146-121342147	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs548387128	chr12:121342156-121342157	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs568089182	chr12:121342158-121342159	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs139706648	chr12:121342166-121342167	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs550369612	chr12:121342181-121342182	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs570435735	chr12:121342196-121342197	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121339400-121341200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr12:121339800-121341200	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr12:121339800-121341200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr12:121339800-121341400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr12:121339800-121341400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:121339800-121341400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr12:121340000-121341200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr12:121340000-121341400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:121340000-121341400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr12:121340000-121341400	Flanking Active TSS	Dnd41	blood
11	chr12:121340000-121342400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr12:121340000-121342400	Active TSS	Fetal Intestine Large	intestine
13	chr12:121340000-121342800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:121340000-121342800	Active TSS	NHDF-Ad	bronchial
15	chr12:121340200-121341200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr12:121340200-121341200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:121340200-121341200	Flanking Active TSS	Fetal Thymus	thymus
18	chr12:121340200-121341400	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr12:121340200-121341400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:121340200-121342600	Active TSS	NHLF	lung
21	chr12:121340200-121343000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:121340400-121341200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:121340400-121341200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:121340400-121341200	Flanking Active TSS	Left Ventricle	heart
25	chr12:121340400-121341200	Flanking Active TSS	Psoas Muscle	Psoas
26	chr12:121340400-121341200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr12:121340400-121341200	Flanking Active TSS	HUVEC	blood vessel
28	chr12:121340400-121341200	Flanking Active TSS	NH-A	brain
29	chr12:121340400-121341400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr12:121340400-121341400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr12:121340400-121341400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:121340400-121341400	Flanking Active TSS	Liver	Liver
33	chr12:121340400-121342200	Active TSS	Colonic Mucosa	Colon
34	chr12:121340400-121342400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr12:121340400-121342400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:121340400-121342400	Active TSS	Esophagus	oesophagus
37	chr12:121340400-121342600	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr12:121340400-121342600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:121340400-121342800	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr12:121340400-121343000	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr12:121340600-121341200	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr12:121340600-121341200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr12:121340600-121341200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:121340600-121341200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:121340600-121341200	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr12:121340600-121341400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr12:121340600-121341400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:121340600-121341800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:121340600-121342200	Active TSS	HMEC	breast
50	chr12:121340600-121342400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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