Variant report

Variant	esv3395240
Chromosome Location	chr12:2160891-2163339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:202)
CpG islands
(count:550)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:202 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:2163334-2163648	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr12:2162549-2163090	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr12:2161887-2163860	IMR90	lung:	n/a	chr12:2163531-2163541
4	CHD2	chr12:2162989-2163002	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr12:2162257-2163679	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr12:2161081-2161405	IMR90	lung:	n/a	chr12:2161219-2161237
7	CTCF	chr12:2161020-2161170	HFF-Myc	foreskin:	n/a	n/a
8	CTCF	chr12:2162060-2162210	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr12:2161180-2161330	AG10803	skin:	n/a	chr12:2161219-2161237
10	CTCF	chr12:2162080-2162230	AG04450	lung:	n/a	n/a
11	CTCF	chr12:2162400-2162550	AG10803	skin:	n/a	n/a
12	CTCF	chr12:2162060-2162210	HPAF	blood vessel:	n/a	n/a
13	CTCF	chr12:2162130-2162226	GM12892	blood:	n/a	n/a
14	CTCF	chr12:2161162-2161287	MCF-7	breast:	n/a	chr12:2161219-2161237
15	CTCF	chr12:2162120-2162270	HFF	foreskin:	n/a	n/a
16	CTCF	chr12:2162100-2162250	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr12:2162084-2162293	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr12:2162120-2162270	GM12870	blood:	n/a	n/a
19	CTCF	chr12:2162340-2162490	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr12:2162140-2162290	GM12864	blood:	n/a	n/a
21	CTCF	chr12:2162060-2162210	Caco-2	colon:	n/a	n/a
22	CTCF	chr12:2162420-2162570	HPF	lung:	n/a	n/a
23	CTCF	chr12:2162119-2162254	ProgFib	skin:	n/a	n/a
24	CTCF	chr12:2161200-2161350	NHLF	lung:	n/a	chr12:2161219-2161237
25	CTCF	chr12:2162440-2162590	HMF	breast:	n/a	n/a
26	CTCF	chr12:2161140-2161290	Caco-2	colon:	n/a	chr12:2161219-2161237
27	CTCF	chr12:2161040-2161190	HFF	foreskin:	n/a	n/a
28	CTCF	chr12:2161140-2161290	HCT-116	colon:	n/a	chr12:2161219-2161237
29	CTCF	chr12:2162894-2163125	IMR90	lung:	n/a	n/a
30	CTCF	chr12:2161040-2161190	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr12:2162075-2162301	T-47D	breast:	n/a	n/a
32	CTCF	chr12:2162360-2162510	AG09319	gingival:	n/a	n/a
33	CTCF	chr12:2162085-2162266	MCF-7	breast:	n/a	n/a
34	CTCF	chr12:2162040-2162190	GM12875	blood:	n/a	n/a
35	CTCF	chr12:2162040-2162190	AG10803	skin:	n/a	n/a
36	CTCF	chr12:2162120-2162270	AG09319	gingival:	n/a	n/a
37	CTCF	chr12:2162107-2162221	GM12891	blood:	n/a	n/a
38	CTCF	chr12:2161200-2161350	HCM	heart:	n/a	chr12:2161219-2161237
39	CTCF	chr12:2161160-2161310	WERI-Rb-1	eye:	n/a	chr12:2161219-2161237
40	CTCF	chr12:2162860-2163010	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr12:2161140-2161290	AG04449	skin:	n/a	chr12:2161219-2161237
42	CTCF	chr12:2162107-2162221	NHEK	skin:	n/a	n/a
43	CTCF	chr12:2161080-2161230	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr12:2162040-2162190	HEEpiC	esophagus:	n/a	n/a
45	CTCF	chr12:2161120-2161270	AG10803	skin:	n/a	chr12:2161219-2161237
46	CTCF	chr12:2161160-2161310	Caco-2	colon:	n/a	chr12:2161219-2161237
47	CTCF	chr12:2162140-2162290	WI-38	lung:	n/a	n/a
48	CTCF	chr12:2162109-2162227	MCF-7	breast:	n/a	n/a
49	CTCF	chr12:2162120-2162270	HEK293	kidney:	n/a	n/a
50	CTCF	chr12:2162060-2162272	MCF-7	breast:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:2162491-2162541	GM06990	blood:	n/a
2	chr12:2162491-2162541	GM06990	blood:	n/a
3	chr12:2162130-2162180	NT2-D1	testis:	n/a
4	chr12:2162338-2162388	MCF-7	breast:	n/a
5	chr12:2162130-2162180	SK-N-SH_RA	brain:	n/a
6	chr12:2162338-2162388	U87	brain:	n/a
7	chr12:2161288-2161338	GM12891	blood:	n/a
8	chr12:2161371-2161421	Hela-S3	cervix:	n/a
9	chr12:2161288-2161338	HCM	heart:	n/a
10	chr12:2162491-2162541	HRE	kidney:	n/a
11	chr12:2162232-2162282	HIPEpiC	eye:	n/a
12	chr12:2161640-2161690	HepG2	liver:	n/a
13	chr12:2161661-2161711	AG10803	skin:	n/a
14	chr12:2161288-2161338	HRPEpiC	eye:	n/a
15	chr12:2162232-2162282	GM12892	blood:	n/a
16	chr12:2161640-2161690	NB4	blood:	n/a
17	chr12:2161640-2161690	PrEC	prostate:	n/a
18	chr12:2162338-2162388	HepG2	liver:	n/a
19	chr12:2162130-2162180	HPAEpiC	pulmonary alveolar:	n/a
20	chr12:2161640-2161690	LNCaP	prostate:	n/a
21	chr12:2162491-2162541	HPAEpiC	pulmonary alveolar:	n/a
22	chr12:2161640-2161690	H1-hESC	embryonic stem cell:	embryo
23	chr12:2161661-2161711	HMEC	breast:	n/a
24	chr12:2161371-2161421	SKMC	muscle:	n/a
25	chr12:2161371-2161421	HMEC	breast:	n/a
26	chr12:2162338-2162388	NH-A	brain:	n/a
27	chr12:2161640-2161690	GM12892	blood:	n/a
28	chr12:2162338-2162388	PrEC	prostate:	n/a
29	chr12:2162130-2162180	K562	blood:	n/a
30	chr12:2161661-2161711	Jurkat	blood:	n/a
31	chr12:2162232-2162282	SK-N-SH	brain:	n/a
32	chr12:2162491-2162541	PFSK-1	brain:	n/a
33	chr12:2162338-2162388	Hela-S3	cervix:	n/a
34	chr12:2161661-2161711	IMR90	lung:	fetal
35	chr12:2162232-2162282	AG04450	lung:	fetal
36	chr12:2161661-2161711	U87	brain:	n/a
37	chr12:2161288-2161338	NT2-D1	testis:	n/a
38	chr12:2162232-2162282	MCF-7	breast:	n/a
39	chr12:2162491-2162541	HCPEpiC	choroid plexus:	n/a
40	chr12:2162130-2162180	Caco-2	colon:	n/a
41	chr12:2161288-2161338	A549	lung:	n/a
42	chr12:2161437-2161487	GM12891	blood:	n/a
43	chr12:2161288-2161338	SK-N-SH_RA	brain:	n/a
44	chr12:2162338-2162388	IMR90	lung:	fetal
45	chr12:2161371-2161421	GM12892	blood:	n/a
46	chr12:2161437-2161487	HEK293	kidney:	embryo
47	chr12:2161371-2161421	IMR90	lung:	fetal
48	chr12:2162338-2162388	GM12891	blood:	n/a
49	chr12:2161437-2161487	PrEC	prostate:	n/a
50	chr12:2161437-2161487	HCT-116	colon:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:2161300..2162299-chr12:42631805..42632377,2	HCT-116	colon:
2	chr12:2144090..2145938-chr12:2158684..2161227,2	MCF-7	breast:
3	chr12:2161819..2162429-chr12:2394003..2394623,2	MCF-7	breast:

No data

Variant related genes	Relation type
CACNA1C	TF binding region
CACNA1C	CpG island
ENSG00000134283	chromatin interactions
ENSG00000015153	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553427529	chr12:2160899-2160900	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs369597261	chr12:2160931-2160932	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530272468	chr12:2160960-2160961	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs571741264	chr12:2160983-2160984	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs188410148	chr12:2160985-2160986	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs137958795	chr12:2161045-2161046	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529592806	chr12:2161081-2161082	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs550405575	chr12:2161109-2161110	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs544537392	chr12:2161132-2161133	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs577380486	chr12:2161141-2161142	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs563112308	chr12:2161153-2161154	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs533537123	chr12:2161190-2161191	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs551939610	chr12:2161194-2161195	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs140374033	chr12:2161214-2161215	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs566962524	chr12:2161281-2161282	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs142557076	chr12:2161284-2161285	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs549362456	chr12:2161301-2161302	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs552264491	chr12:2161303-2161304	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs181265317	chr12:2161329-2161330	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs538160913	chr12:2161353-2161354	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs556158251	chr12:2161388-2161389	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs571449966	chr12:2161423-2161424	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs77464352	chr12:2161538-2161539	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs553489096	chr12:2161554-2161555	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs723672	chr12:2161561-2161562	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs75639014	chr12:2161642-2161643	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs554558429	chr12:2161669-2161670	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs550811223	chr12:2161712-2161713	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs575913091	chr12:2161746-2161747	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs544910140	chr12:2161747-2161748	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs562644445	chr12:2161778-2161779	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs71435030	chr12:2161817-2161818	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs190532500	chr12:2161868-2161869	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs112706436	chr12:2161982-2161983	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs181910852	chr12:2162048-2162049	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs530020760	chr12:2162060-2162061	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs548465087	chr12:2162067-2162068	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs187284606	chr12:2162124-2162125	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs556154878	chr12:2162135-2162136	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs538323756	chr12:2162217-2162218	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs373834512	chr12:2162225-2162226	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs144816572	chr12:2162335-2162336	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs560623614	chr12:2162359-2162360	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs11062091	chr12:2162369-2162370	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549175992	chr12:2162370-2162371	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs567675513	chr12:2162374-2162375	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs531589437	chr12:2162505-2162506	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs550080643	chr12:2162536-2162537	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs112412740	chr12:2162548-2162549	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs79973071	chr12:2162568-2162569	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2158800-2161200	Enhancers	Fetal Heart	heart
2	chr12:2159400-2161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:2159400-2161200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:2159600-2161000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:2159800-2161000	Weak transcription	Osteobl	bone
6	chr12:2160200-2161200	Enhancers	HSMMtube	muscle
7	chr12:2160600-2161000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr12:2160600-2161000	Enhancers	Left Ventricle	heart
9	chr12:2160600-2161000	Enhancers	Stomach Smooth Muscle	stomach
10	chr12:2160600-2161000	Enhancers	Spleen	Spleen
11	chr12:2160600-2161200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:2160600-2161200	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr12:2160600-2161400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr12:2160800-2161000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:2160800-2161000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:2160800-2161000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:2160800-2161000	Enhancers	Brain Anterior Caudate	brain
18	chr12:2160800-2161000	Bivalent Enhancer	Fetal Brain Female	brain
19	chr12:2160800-2161000	Bivalent Enhancer	Fetal Lung	lung
20	chr12:2160800-2161000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr12:2160800-2161200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
22	chr12:2160800-2161200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr12:2160800-2161200	Bivalent Enhancer	Fetal Intestine Large	intestine
24	chr12:2160800-2161200	Bivalent Enhancer	Fetal Stomach	stomach
25	chr12:2160800-2161200	Enhancers	Right Ventricle	heart
26	chr12:2160800-2161200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
27	chr12:2160800-2161400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:2160800-2161400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:2160800-2161400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
30	chr12:2160800-2161400	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr12:2160800-2161400	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
32	chr12:2160800-2164200	Active TSS	NHDF-Ad	bronchial
33	chr12:2160800-2166200	Active TSS	Brain Angular Gyrus	brain
34	chr12:2161000-2161200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr12:2161000-2161200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:2161000-2161200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:2161000-2161200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:2161000-2161200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr12:2161000-2161200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:2161000-2161200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr12:2161000-2161200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:2161000-2161200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:2161000-2161200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:2161000-2161200	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr12:2161000-2161200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:2161000-2161200	Bivalent Enhancer	Brain Substantia Nigra	brain
47	chr12:2161000-2161200	Bivalent Enhancer	Fetal Brain Male	brain
48	chr12:2161000-2161200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
49	chr12:2161000-2161200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr12:2161000-2161400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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