Variant report

Variant	esv3376153
Chromosome Location	chr2:233791333-233794081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:488)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:233792321-233792326	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr2:233791276-233792285	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr2:233793032-233793040	MCF-7	breast:	n/a	n/a
4	CTCF	chr2:233793070-233793094	MCF-7	breast:	n/a	n/a
5	CTCF	chr2:233792641-233792694	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:233793007-233793082	Pancreas_OC	pancreas:	n/a	n/a
7	CTCF	chr2:233792625-233792678	MCF-7	breast:	n/a	n/a
8	CTCF	chr2:233793014-233793066	MCF-7	breast:	n/a	n/a
9	E2F6	chr2:233791909-233792475	A549	lung:	n/a	chr2:233792309-233792324
10	EGR1	chr2:233792832-233793355	ECC-1	luminal epithelium:	n/a	chr2:233793116-233793126 chr2:233793117-233793132 chr2:233793119-233793130 chr2:233793118-233793131 chr2:233793042-233793055
11	EP300	chr2:233791736-233792411	ECC-1	luminal epithelium:	n/a	n/a
12	FOS	chr2:233791966-233792263	HUVEC	blood vessel:	n/a	n/a
13	GTF2F1	chr2:233791662-233791668	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr2:233791734-233792398	A549	lung:	n/a	n/a
15	MAX	chr2:233791713-233792795	A549	lung:	n/a	n/a
16	MAX	chr2:233793359-233794290	H1-hESC	embryonic stem cell:	n/a	chr2:233794117-233794126 chr2:233794116-233794125 chr2:233794114-233794129 chr2:233794116-233794126 chr2:233794112-233794127 chr2:233794115-233794125
17	MAX	chr2:233792595-233792647	A549	lung:	n/a	n/a
18	MAX	chr2:233791839-233792404	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr2:233791892-233792448	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr2:233793559-233794276	H1-hESC	embryonic stem cell:	n/a	chr2:233794117-233794126 chr2:233794116-233794125 chr2:233794114-233794129 chr2:233794116-233794126 chr2:233794112-233794127 chr2:233794115-233794125
21	MAZ	chr2:233791427-233791429	K562	blood:	n/a	n/a
22	MYC	chr2:233793959-233794194	H1-hESC	embryonic stem cell:	n/a	chr2:233794117-233794126 chr2:233794116-233794125 chr2:233794114-233794129 chr2:233794116-233794126 chr2:233794112-233794127 chr2:233794115-233794125
23	NFIC	chr2:233791952-233792308	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr2:233791765-233792141	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr2:233792649-233792718	MCF-7	breast:	n/a	n/a
26	POLR2A	chr2:233792736-233792892	A549	lung:	n/a	n/a
27	POLR2A	chr2:233793539-233793567	MCF-7	breast:	n/a	n/a
28	POLR2A	chr2:233792633-233792992	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr2:233792649-233792915	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr2:233792770-233792846	A549	lung:	n/a	n/a
31	POLR2A	chr2:233792089-233792233	Gliobla	brain:	n/a	n/a
32	POLR2A	chr2:233792925-233793165	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr2:233792127-233792469	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr2:233792745-233792889	MCF-7	breast:	n/a	n/a
35	POLR2A	chr2:233792801-233792889	Gliobla	brain:	n/a	n/a
36	POLR2A	chr2:233792601-233793050	H1-neurons	neurons:	n/a	n/a
37	RAD21	chr2:233791861-233792386	ECC-1	luminal epithelium:	n/a	n/a
38	SIN3A	chr2:233793029-233793693	H1-hESC	embryonic stem cell:	n/a	chr2:233793095-233793104
39	SIN3A	chr2:233792184-233792309	H1-hESC	embryonic stem cell:	n/a	n/a
40	SIN3A	chr2:233791404-233791887	H1-hESC	embryonic stem cell:	n/a	chr2:233791423-233791434
41	SUZ12	chr2:233791458-233792155	H1-hESC	embryonic stem cell:	n/a	n/a
42	SUZ12	chr2:233791142-233792682	NT2-D1	testis:	n/a	n/a
43	TAF1	chr2:233791860-233792342	ECC-1	luminal epithelium:	n/a	n/a
44	TCF12	chr2:233793855-233794134	H1-hESC	embryonic stem cell:	n/a	n/a
45	TCF12	chr2:233791851-233792512	ECC-1	luminal epithelium:	n/a	n/a
46	TEAD4	chr2:233793831-233794179	H1-hESC	embryonic stem cell:	n/a	n/a
47	USF1	chr2:233793921-233794262	H1-hESC	embryonic stem cell:	n/a	n/a
48	USF1	chr2:233793897-233794292	H1-hESC	embryonic stem cell:	n/a	n/a
49	USF2	chr2:233794000-233794243	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr2:233791956-233792231	ECC-1	luminal epithelium:	n/a	chr2:233792022-233792036 chr2:233792021-233792035 chr2:233792019-233792030

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:233793311-233793361	SK-N-SH_RA	brain:	n/a
2	chr2:233793088-233793138	GM12891	blood:	n/a
3	chr2:233792394-233792444	NH-A	brain:	n/a
4	chr2:233793120-233793170	NT2-D1	testis:	n/a
5	chr2:233793921-233793971	SAEC	small airway:	n/a
6	chr2:233793120-233793170	PANC-1	pancreas:	n/a
7	chr2:233793120-233793170	Hepatocyte	liver:	n/a
8	chr2:233793120-233793170	SK-N-SH	brain:	n/a
9	chr2:233791962-233792012	K562	blood:	n/a
10	chr2:233793311-233793361	Caco-2	colon:	n/a
11	chr2:233791962-233792012	GM12891	blood:	n/a
12	chr2:233793120-233793170	MCF10A-Er-Src	breast:	n/a
13	chr2:233793311-233793361	NT2-D1	testis:	n/a
14	chr2:233793311-233793361	PANC-1	pancreas:	n/a
15	chr2:233793120-233793170	HEEpiC	esophagus:	n/a
16	chr2:233793120-233793170	HEK293	kidney:	embryo
17	chr2:233793921-233793971	AG04450	lung:	fetal
18	chr2:233791962-233792012	HCT-116	colon:	n/a
19	chr2:233793311-233793361	H1-hESC	embryonic stem cell:	embryo
20	chr2:233793921-233793971	HRPEpiC	eye:	n/a
21	chr2:233793921-233793971	H1-hESC	embryonic stem cell:	embryo
22	chr2:233791890-233791940	PFSK-1	brain:	n/a
23	chr2:233793921-233793971	BE2_C	brain:	n/a
24	chr2:233792394-233792444	H1-hESC	embryonic stem cell:	embryo
25	chr2:233791962-233792012	SKMC	muscle:	n/a
26	chr2:233792394-233792444	AoSMC	blood vessel:	n/a
27	chr2:233793088-233793138	HCF	heart:	n/a
28	chr2:233793088-233793138	MCF-7	breast:	n/a
29	chr2:233793088-233793138	AoSMC	blood vessel:	n/a
30	chr2:233793921-233793971	Caco-2	colon:	n/a
31	chr2:233792732-233792782	AG10803	skin:	n/a
32	chr2:233791890-233791940	GM12878	blood:	n/a
33	chr2:233793120-233793170	HCF	heart:	n/a
34	chr2:233792732-233792782	Hepatocyte	liver:	n/a
35	chr2:233793088-233793138	SAEC	small airway:	n/a
36	chr2:233791962-233792012	Hepatocyte	liver:	n/a
37	chr2:233791962-233792012	HCPEpiC	choroid plexus:	n/a
38	chr2:233793311-233793361	HCM	heart:	n/a
39	chr2:233791890-233791940	AG04450	lung:	fetal
40	chr2:233793921-233793971	Hepatocyte	liver:	n/a
41	chr2:233792394-233792444	ECC-1	luminal epithelium:	n/a
42	chr2:233791962-233792012	MCF-7	breast:	n/a
43	chr2:233793120-233793170	Jurkat	blood:	n/a
44	chr2:233791890-233791940	HL-60	blood:	n/a
45	chr2:233793088-233793138	GM12892	blood:	n/a
46	chr2:233791962-233792012	HMEC	breast:	n/a
47	chr2:233792394-233792444	SKMC	muscle:	n/a
48	chr2:233791890-233791940	HMEC	breast:	n/a
49	chr2:233792394-233792444	HRE	kidney:	n/a
50	chr2:233793088-233793138	BE2_C	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:233757939..233760469-chr2:233789148..233791862,2	K562	blood:
2	chr2:233790048..233791601-chr2:233794420..233796079,2	K562	blood:
3	chr2:233757939..233761647-chr2:233789148..233791862,3	K562	blood:
4	chr2:233792964..233795634-chr2:233797623..233799367,2	K562	blood:
5	chr2:233725493..233728211-chr2:233788384..233791443,3	K562	blood:

No data

Variant related genes	Relation type
NGEF	TF binding region
NGEF	CpG island

Extended variants
information (count: 101 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1878288	chr2:233791390-233791391	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530794674	chr2:233791401-233791402	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150042433	chr2:233791433-233791434	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567754522	chr2:233791458-233791459	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530178638	chr2:233791459-233791460	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547218339	chr2:233791460-233791461	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567042591	chr2:233791471-233791472	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144485640	chr2:233791484-233791485	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11891895	chr2:233791525-233791526	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1878289	chr2:233791608-233791609	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs114039268	chr2:233791624-233791625	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs2592127	chr2:233791648-233791649	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs368738673	chr2:233791707-233791708	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs201112654	chr2:233791794-233791795	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs200707014	chr2:233791800-233791801	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552768986	chr2:233791813-233791814	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549019621	chr2:233791817-233791818	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572666943	chr2:233791824-233791825	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78057440	chr2:233791843-233791844	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545320400	chr2:233791845-233791846	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200175226	chr2:233791847-233791848	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199654749	chr2:233791859-233791860	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145839519	chr2:233791864-233791865	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368810687	chr2:233791882-233791883	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371268725	chr2:233791889-233791890	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544291468	chr2:233791918-233791919	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561221943	chr2:233791930-233791931	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377161498	chr2:233791944-233791945	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547083379	chr2:233791957-233791958	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2675959	chr2:233791988-233791989	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs532576997	chr2:233791996-233791997	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181021966	chr2:233792026-233792027	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62191809	chr2:233792038-233792039	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538488365	chr2:233792056-233792057	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550160175	chr2:233792073-233792074	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2675960	chr2:233792109-233792110	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs535956787	chr2:233792119-233792120	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552634659	chr2:233792123-233792124	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2944590	chr2:233792207-233792208	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs11893201	chr2:233792239-233792240	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs368042196	chr2:233792268-233792269	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575452500	chr2:233792294-233792295	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374135899	chr2:233792295-233792296	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561283462	chr2:233792323-233792324	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186431878	chr2:233792409-233792410	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2592118	chr2:233792425-233792426	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs113878180	chr2:233792443-233792444	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560567648	chr2:233792539-233792540	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2921705	chr2:233792565-233792566	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552502959	chr2:233792588-233792589	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233781800-233791800	Weak transcription	Pancreas	Pancrea
2	chr2:233784000-233791400	Strong transcription	Liver	Liver
3	chr2:233785000-233792000	Weak transcription	Gastric	stomach
4	chr2:233789200-233791400	Enhancers	Esophagus	oesophagus
5	chr2:233789200-233791600	Strong transcription	HepG2	liver
6	chr2:233789400-233791600	Enhancers	HSMMtube	muscle
7	chr2:233789800-233791400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
8	chr2:233789800-233791600	Active TSS	Brain Anterior Caudate	brain
9	chr2:233789800-233791600	Bivalent Enhancer	Fetal Intestine Small	intestine
10	chr2:233789800-233791800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr2:233789800-233791800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:233789800-233792000	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr2:233789800-233792400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr2:233789800-233793200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr2:233790000-233791600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:233790000-233791600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:233790000-233792000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr2:233790000-233792200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
19	chr2:233790200-233791400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr2:233790200-233791400	Active TSS	Brain Angular Gyrus	brain
21	chr2:233790200-233791600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr2:233790200-233791800	Bivalent Enhancer	Fetal Stomach	stomach
23	chr2:233790200-233791800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
24	chr2:233790200-233792000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:233790400-233791400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:233790400-233792200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr2:233790400-233792400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
28	chr2:233790600-233791400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr2:233790600-233791800	Bivalent Enhancer	Right Ventricle	heart
30	chr2:233790600-233792400	Bivalent Enhancer	Placenta	Placenta
31	chr2:233790800-233791400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr2:233790800-233791400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:233790800-233791600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:233791000-233791400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:233791000-233791400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
36	chr2:233791000-233791600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr2:233791000-233791600	Bivalent Enhancer	Fetal Lung	lung
38	chr2:233791000-233791800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:233791000-233792400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
40	chr2:233791000-233792400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
41	chr2:233791000-233792600	Bivalent Enhancer	Fetal Brain Male	brain
42	chr2:233791200-233791400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:233791200-233791400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:233791200-233791400	Bivalent Enhancer	Brain Hippocampus Middle	brain
45	chr2:233791200-233791400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:233791200-233791400	Bivalent Enhancer	Brain Substantia Nigra	brain
47	chr2:233791200-233791400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr2:233791200-233791600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
49	chr2:233791200-233791800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
50	chr2:233791200-233791800	Bivalent Enhancer	Primary B cells from cord blood	blood

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