Variant report

Variant	nsv557001
Chromosome Location	chr12:2161561-2164108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:175)
CpG islands
(count:490)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:175 , 50 per page) page: 1 2 3 4

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	chr12:2162120-2162270	HVMF	connective:	n/a	n/a
7	CTCF	chr12:2163600-2163750	HCM	heart:	n/a	n/a
8	CTCF	chr12:2162040-2162190	SAEC	small airway:	n/a	n/a
9	CTCF	chr12:2162120-2162270	HEK293	kidney:	n/a	n/a
10	CTCF	chr12:2162120-2162270	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr12:2163560-2163710	AG09309	skin:	n/a	n/a
12	CTCF	chr12:2162400-2162550	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr12:2162120-2162270	GM12869	blood:	n/a	n/a
14	CTCF	chr12:2162100-2162250	HMEC	breast:	n/a	n/a
15	CTCF	chr12:2162152-2162189	Medullo	brain:	n/a	n/a
16	CTCF	chr12:2162040-2162190	AG10803	skin:	n/a	n/a
17	CTCF	chr12:2162060-2162210	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr12:2162080-2162291	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr12:2162420-2162570	HPF	lung:	n/a	n/a
20	CTCF	chr12:2162020-2162170	HEK293	kidney:	n/a	n/a
21	CTCF	chr12:2162096-2162278	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr12:2162085-2162266	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:2162080-2162230	HCM	heart:	n/a	n/a
24	CTCF	chr12:2162034-2162274	HepG2	liver:	n/a	n/a
25	CTCF	chr12:2162480-2162630	HAc	cerebellar:	n/a	n/a
26	CTCF	chr12:2163680-2163830	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr12:2162087-2162261	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr12:2162060-2162210	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr12:2162060-2162210	AG09319	gingival:	n/a	n/a
30	CTCF	chr12:2162100-2162250	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr12:2162040-2162190	HMF	breast:	n/a	n/a
32	CTCF	chr12:2162060-2162210	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr12:2162009-2162360	IMR90	lung:	n/a	n/a
34	CTCF	chr12:2162100-2162250	AG04449	skin:	n/a	n/a
35	CTCF	chr12:2163606-2163708	Fibrobl	skin:	n/a	n/a
36	CTCF	chr12:2162140-2162290	GM12864	blood:	n/a	n/a
37	CTCF	chr12:2162040-2162190	HPF	lung:	n/a	n/a
38	CTCF	chr12:2162060-2162210	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr12:2162123-2162249	LNCaP	prostate:	n/a	n/a
40	CTCF	chr12:2163560-2163710	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr12:2162094-2162335	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr12:2162120-2162270	HepG2	liver:	n/a	n/a
43	CTCF	chr12:2162120-2162270	GM12870	blood:	n/a	n/a
44	CTCF	chr12:2162080-2162230	NHEK	skin:	n/a	n/a
45	CTCF	chr12:2163540-2163690	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr12:2162120-2162270	NHDF-neo	bronchial:	n/a	n/a
47	CTCF	chr12:2162060-2162210	HPF	lung:	n/a	n/a
48	CTCF	chr12:2162080-2162230	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr12:2162153-2162231	GM13976	blood:	n/a	n/a
50	CTCF	chr12:2162400-2162550	AG10803	skin:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:2161640-2161690	ovcar-3	ovarian:	n/a
2	chr12:2162491-2162541	Hela-S3	cervix:	n/a
3	chr12:2161640-2161690	ovcar-3	ovarian:	n/a
4	chr12:2162491-2162541	Hela-S3	cervix:	n/a
5	chr12:2162491-2162541	NB4	blood:	n/a
6	chr12:2161640-2161690	BJ	skin:	n/a
7	chr12:2163532-2163582	ProgFib	skin:	n/a
8	chr12:2162130-2162180	PrEC	prostate:	n/a
9	chr12:2163532-2163582	BE2_C	brain:	n/a
10	chr12:2162130-2162180	HRE	kidney:	n/a
11	chr12:2162130-2162180	PFSK-1	brain:	n/a
12	chr12:2161640-2161690	HepG2	liver:	n/a
13	chr12:2163532-2163582	SK-N-SH	brain:	n/a
14	chr12:2161661-2161711	ProgFib	skin:	n/a
15	chr12:2162491-2162541	BJ	skin:	n/a
16	chr12:2161661-2161711	SAEC	small airway:	n/a
17	chr12:2163608-2163658	HL-60	blood:	n/a
18	chr12:2163608-2163658	AG10803	skin:	n/a
19	chr12:2163608-2163658	GM06990	blood:	n/a
20	chr12:2163532-2163582	PrEC	prostate:	n/a
21	chr12:2161661-2161711	CMK	blood:	n/a
22	chr12:2162338-2162388	HCPEpiC	choroid plexus:	n/a
23	chr12:2162338-2162388	HNPCEpiC	eye:	n/a
24	chr12:2163532-2163582	HepG2	liver:	n/a
25	chr12:2162130-2162180	MCF10A-Er-Src	breast:	n/a
26	chr12:2161661-2161711	HNPCEpiC	eye:	n/a
27	chr12:2162232-2162282	HEEpiC	esophagus:	n/a
28	chr12:2162130-2162180	AG10803	skin:	n/a
29	chr12:2162130-2162180	SAEC	small airway:	n/a
30	chr12:2161661-2161711	Hela-S3	cervix:	n/a
31	chr12:2161661-2161711	A549	lung:	n/a
32	chr12:2163532-2163582	HCF	heart:	n/a
33	chr12:2162491-2162541	IMR90	lung:	fetal
34	chr12:2162232-2162282	ECC-1	luminal epithelium:	n/a
35	chr12:2162338-2162388	K562	blood:	n/a
36	chr12:2162130-2162180	NT2-D1	testis:	n/a
37	chr12:2163608-2163658	MCF-7	breast:	n/a
38	chr12:2162491-2162541	GM19239	blood:	n/a
39	chr12:2163608-2163658	NHDF-neo	bronchial:	n/a
40	chr12:2162130-2162180	HCF	heart:	n/a
41	chr12:2161661-2161711	Hepatocyte	liver:	n/a
42	chr12:2162491-2162541	HRE	kidney:	n/a
43	chr12:2162130-2162180	ProgFib	skin:	n/a
44	chr12:2161661-2161711	SK-N-MC	brain:	n/a
45	chr12:2163608-2163658	AG04449	skin:	fetal
46	chr12:2161661-2161711	HepG2	liver:	n/a
47	chr12:2162338-2162388	GM12892	blood:	n/a
48	chr12:2162232-2162282	Jurkat	blood:	n/a
49	chr12:2161661-2161711	SKMC	muscle:	n/a
50	chr12:2162338-2162388	CMK	blood:	n/a

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

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

No data

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

Extended variants
information (count: 68 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	rs556115197	chr12:2162573-2162574	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
28	rs565496062	chr12:2162636-2162637	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
29	rs138130246	chr12:2162650-2162651	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
30	rs373824100	chr12:2162703-2162704	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
31	rs536361695	chr12:2162727-2162728	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
32	rs372651429	chr12:2162736-2162737	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376806516	chr12:2162746-2162747	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371812517	chr12:2162813-2162814	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377384951	chr12:2162825-2162826	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554339021	chr12:2162976-2162977	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11062092	chr12:2163032-2163033	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536632940	chr12:2163045-2163046	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74618594	chr12:2163147-2163148	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139259148	chr12:2163274-2163275	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545677148	chr12:2163304-2163305	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540464785	chr12:2163352-2163353	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560684696	chr12:2163403-2163404	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116824333	chr12:2163410-2163411	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192073978	chr12:2163420-2163421	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561212523	chr12:2163431-2163432	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531769130	chr12:2163437-2163438	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143876435	chr12:2163448-2163449	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576951755	chr12:2163506-2163507	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574573613	chr12:2163535-2163536	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	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:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2160800-2164200	Active TSS	NHDF-Ad	bronchial
2	chr12:2160800-2166200	Active TSS	Brain Angular Gyrus	brain
3	chr12:2161000-2161600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:2161000-2161600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:2161000-2161600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:2161000-2161600	Flanking Active TSS	Brain Anterior Caudate	brain
7	chr12:2161000-2161600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
8	chr12:2161000-2161600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
9	chr12:2161000-2161600	Bivalent Enhancer	Spleen	Spleen
10	chr12:2161000-2161600	Flanking Active TSS	Osteobl	bone
11	chr12:2161000-2162400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr12:2161000-2163400	Active TSS	Ovary	ovary
13	chr12:2161000-2164200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr12:2161000-2165800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr12:2161000-2167000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:2161200-2161600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr12:2161200-2161600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:2161200-2161600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:2161200-2161600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:2161200-2161600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:2161200-2161600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr12:2161200-2161600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:2161200-2161600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:2161200-2161600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
25	chr12:2161200-2161600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
26	chr12:2161200-2161600	Flanking Active TSS	Fetal Brain Male	brain
27	chr12:2161200-2161600	Flanking Active TSS	Fetal Brain Female	brain
28	chr12:2161200-2161600	Flanking Active TSS	Fetal Heart	heart
29	chr12:2161200-2161600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr12:2161200-2161600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr12:2161200-2161600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr12:2161200-2161600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr12:2161200-2161600	Flanking Active TSS	HSMMtube	muscle
34	chr12:2161200-2161800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr12:2161200-2161800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:2161200-2161800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:2161200-2161800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:2161200-2162200	Bivalent/Poised TSS	Thymus	Thymus
39	chr12:2161200-2162400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
40	chr12:2161200-2163000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr12:2161200-2163200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:2161200-2163400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:2161200-2163600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:2161200-2163800	Active TSS	Right Atrium	heart
45	chr12:2161200-2164000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr12:2161200-2164000	Bivalent/Poised TSS	Psoas Muscle	Psoas
47	chr12:2161200-2164200	Active TSS	Brain Substantia Nigra	brain
48	chr12:2161200-2164400	Bivalent/Poised TSS	Colonic Mucosa	Colon
49	chr12:2161200-2165200	Active TSS	Aorta	Aorta
50	chr12:2161200-2165600	Active TSS	Brain Hippocampus Middle	brain

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