Variant report

Variant	esv3448068
Chromosome Location	chr2:86563641-86565889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:977)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:86563857-86563877	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr2:86564779-86564892	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr2:86564273-86564274	Hela-S3	cervix:	n/a	n/a
4	CHD2	chr2:86564683-86565042	Hela-S3	cervix:	n/a	n/a
5	CTBP2	chr2:86564814-86565257	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr2:86563874-86563903	MCF-7	breast:	n/a	n/a
7	CTCF	chr2:86563860-86564270	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr2:86563840-86563990	Caco-2	colon:	n/a	n/a
9	CTCF	chr2:86563887-86563917	MCF-7	breast:	n/a	n/a
10	CTCF	chr2:86564020-86564170	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr2:86564260-86564410	GM12875	blood:	n/a	n/a
12	CTCF	chr2:86563820-86563970	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr2:86563860-86564010	Caco-2	colon:	n/a	n/a
14	CTCF	chr2:86563840-86563990	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr2:86563827-86563903	GM12891	blood:	n/a	n/a
16	CTCF	chr2:86563818-86563938	MCF-7	breast:	n/a	n/a
17	E2F1	chr2:86564184-86565170	Hela-S3	cervix:	n/a	chr2:86564789-86564799 chr2:86564390-86564400 chr2:86564964-86564971 chr2:86564962-86564972 chr2:86564391-86564401 chr2:86564963-86564971 chr2:86564394-86564404 chr2:86564733-86564743 chr2:86564770-86564785 chr2:86564756-86564765 chr2:86564963-86564971
18	HA-E2F1	chr2:86564787-86565392	MCF-7	breast:	n/a	chr2:86564789-86564799 chr2:86564964-86564971 chr2:86564962-86564972 chr2:86564963-86564971 chr2:86564963-86564971
19	HA-E2F1	chr2:86564164-86565140	Hela-S3	cervix:	n/a	chr2:86564789-86564799 chr2:86564390-86564400 chr2:86564964-86564971 chr2:86564962-86564972 chr2:86564391-86564401 chr2:86564963-86564971 chr2:86564394-86564404 chr2:86564733-86564743 chr2:86564756-86564765 chr2:86564963-86564971
20	JUND	chr2:86565384-86565422	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr2:86563926-86563928	H1-hESC	embryonic stem cell:	n/a	n/a
22	KAP1	chr2:86565184-86565539	HEK293	kidney:	n/a	n/a
23	MAFK	chr2:86565043-86565170	Hela-S3	cervix:	n/a	n/a
24	MAX	chr2:86563046-86564274	Hela-S3	cervix:	n/a	chr2:86563806-86563815
25	MAX	chr2:86564634-86564875	Hela-S3	cervix:	n/a	n/a
26	MAX	chr2:86564561-86564993	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr2:86564538-86564990	HepG2	liver:	n/a	n/a
28	MAX	chr2:86563768-86564462	ECC-1	luminal epithelium:	n/a	chr2:86563806-86563815
29	MAZ	chr2:86564849-86565079	Hela-S3	cervix:	n/a	n/a
30	MAZ	chr2:86564235-86564284	Hela-S3	cervix:	n/a	n/a
31	MXI1	chr2:86563737-86564242	Hela-S3	cervix:	n/a	n/a
32	MXI1	chr2:86563461-86565056	SK-N-SH	brain:	n/a	n/a
33	MXI1	chr2:86563751-86564333	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr2:86564588-86564754	MCF-7	breast:	n/a	n/a
35	MYC	chr2:86564756-86564768	MCF-7	breast:	n/a	n/a
36	POLR2A	chr2:86563464-86565221	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr2:86564705-86564711	MCF-7	breast:	n/a	n/a
38	POLR2A	chr2:86564281-86564937	MCF-7	breast:	n/a	n/a
39	POLR2A	chr2:86563062-86565332	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr2:86564075-86564261	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr2:86564944-86564948	MCF-7	breast:	n/a	n/a
42	POLR2A	chr2:86564561-86564808	MCF-7	breast:	n/a	n/a
43	POLR2A	chr2:86565162-86565222	K562	blood:	n/a	n/a
44	POLR2A	chr2:86563677-86563832	K562	blood:	n/a	n/a
45	POLR2A	chr2:86564712-86564722	MCF-7	breast:	n/a	n/a
46	POLR2A	chr2:86564560-86564946	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr2:86564616-86564821	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr2:86564559-86564853	HCT-116	colon:	n/a	n/a
49	POLR2A	chr2:86564255-86564261	MCF-7	breast:	n/a	n/a
50	POLR2A	chr2:86564306-86564533	ECC-1	luminal epithelium:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:86565038-86565088	HRE	kidney:	n/a
2	chr2:86565038-86565088	HRE	kidney:	n/a
3	chr2:86564659-86564709	SK-N-SH	brain:	n/a
4	chr2:86564636-86564686	Jurkat	blood:	n/a
5	chr2:86565216-86565266	NB4	blood:	n/a
6	chr2:86564127-86564177	SAEC	small airway:	n/a
7	chr2:86563753-86563803	SAEC	small airway:	n/a
8	chr2:86565124-86565174	SKMC	muscle:	n/a
9	chr2:86565390-86565440	NHBE	bronchial:	n/a
10	chr2:86565377-86565427	H1-hESC	embryonic stem cell:	embryo
11	chr2:86565377-86565427	HIPEpiC	eye:	n/a
12	chr2:86564582-86564632	HEK293	kidney:	embryo
13	chr2:86565178-86565228	HEK293	kidney:	embryo
14	chr2:86564885-86564935	A549	lung:	n/a
15	chr2:86564053-86564103	HRE	kidney:	n/a
16	chr2:86565178-86565228	AG09319	gingival:	n/a
17	chr2:86565178-86565228	GM19239	blood:	n/a
18	chr2:86565038-86565088	HCT-116	colon:	n/a
19	chr2:86564127-86564177	PFSK-1	brain:	n/a
20	chr2:86565259-86565309	IMR90	lung:	fetal
21	chr2:86565038-86565088	K562	blood:	n/a
22	chr2:86564053-86564103	AG09319	gingival:	n/a
23	chr2:86564659-86564709	Hepatocyte	liver:	n/a
24	chr2:86565178-86565228	AG09309	skin:	n/a
25	chr2:86565124-86565174	CMK	blood:	n/a
26	chr2:86564127-86564177	Jurkat	blood:	n/a
27	chr2:86564436-86564486	HRPEpiC	eye:	n/a
28	chr2:86565178-86565228	ECC-1	luminal epithelium:	n/a
29	chr2:86564127-86564177	K562	blood:	n/a
30	chr2:86565390-86565440	HEK293	kidney:	embryo
31	chr2:86565259-86565309	NB4	blood:	n/a
32	chr2:86565038-86565088	MCF-7	breast:	n/a
33	chr2:86565178-86565228	T-47D	breast:	n/a
34	chr2:86564885-86564935	BE2_C	brain:	n/a
35	chr2:86564659-86564709	HEEpiC	esophagus:	n/a
36	chr2:86565390-86565440	Hepatocyte	liver:	n/a
37	chr2:86565377-86565427	NHDF-neo	bronchial:	n/a
38	chr2:86565377-86565427	MCF-7	breast:	n/a
39	chr2:86564053-86564103	RPTEC	kidney:	n/a
40	chr2:86563753-86563803	PFSK-1	brain:	n/a
41	chr2:86565178-86565228	HCF	heart:	n/a
42	chr2:86565124-86565174	MCF10A-Er-Src	breast:	n/a
43	chr2:86564659-86564709	GM12878	blood:	n/a
44	chr2:86563753-86563803	HEEpiC	esophagus:	n/a
45	chr2:86565216-86565266	Jurkat	blood:	n/a
46	chr2:86564659-86564709	HCPEpiC	choroid plexus:	n/a
47	chr2:86565216-86565266	HEK293	kidney:	embryo
48	chr2:86564582-86564632	HEEpiC	esophagus:	n/a
49	chr2:86564053-86564103	Caco-2	colon:	n/a
50	chr2:86565038-86565088	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86422237..86423747-chr2:86562559..86564958,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IMMT-3	chr2:86563845-86564188	NONHSAT072099

No data

Variant related genes	Relation type
REEP1	TF binding region
REEP1	CpG island
ENSG00000273080	chromatin interactions
ENSG00000132305	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13005269	chr2:86563739-86563740	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6760662	chr2:86563753-86563754	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569877110	chr2:86563803-86563804	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs376573874	chr2:86563818-86563819	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs111745226	chr2:86563821-86563822	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs555550986	chr2:86563824-86563825	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567263725	chr2:86563845-86563846	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs6718850	chr2:86563847-86563848	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs553369441	chr2:86563878-86563879	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs578176821	chr2:86563910-86563911	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs567218577	chr2:86563942-86563943	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs557091140	chr2:86563966-86563967	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs575435034	chr2:86563973-86563974	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs182201429	chr2:86564020-86564021	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs561086101	chr2:86564037-86564038	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs573137115	chr2:86564057-86564058	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs540648049	chr2:86564125-86564126	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs565155834	chr2:86564134-86564135	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs566231737	chr2:86564174-86564175	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs551706995	chr2:86564240-86564241	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs138233994	chr2:86564254-86564255	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs530769479	chr2:86564321-86564322	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs141214514	chr2:86564358-86564359	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs371434693	chr2:86564395-86564396	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs567383297	chr2:86564404-86564405	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs13024060	chr2:86564418-86564419	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs187407143	chr2:86564462-86564463	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs145022978	chr2:86564490-86564491	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs571164805	chr2:86564513-86564514	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs538898539	chr2:86564543-86564544	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs557277109	chr2:86564548-86564549	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs190996465	chr2:86564569-86564570	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs536482080	chr2:86564583-86564584	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs554619370	chr2:86564648-86564649	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs544099237	chr2:86564667-86564668	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs181020370	chr2:86564678-86564679	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs545000846	chr2:86564806-86564807	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs113788205	chr2:86564815-86564816	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs573256758	chr2:86564819-86564820	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs540384937	chr2:86564833-86564834	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs565240591	chr2:86565004-86565005	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs577216472	chr2:86565007-86565008	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs138818461	chr2:86565024-86565025	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs563611939	chr2:86565047-86565048	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs185618007	chr2:86565130-86565131	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs370430177	chr2:86565141-86565142	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs190135236	chr2:86565244-86565245	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs560942271	chr2:86565292-86565293	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs182739658	chr2:86565300-86565301	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs187391443	chr2:86565302-86565303	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86552200-86563800	Weak transcription	Aorta	Aorta
2	chr2:86562400-86565000	Active TSS	Fetal Brain Female	brain
3	chr2:86563000-86563800	Bivalent Enhancer	Stomach Mucosa	stomach
4	chr2:86563000-86564000	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr2:86563000-86564000	Flanking Active TSS	Fetal Brain Male	brain
6	chr2:86563000-86564000	Bivalent Enhancer	Placenta	Placenta
7	chr2:86563000-86564000	Flanking Active TSS	Pancreas	Pancrea
8	chr2:86563000-86564000	Flanking Active TSS	Right Ventricle	heart
9	chr2:86563000-86564200	Flanking Active TSS	Colon Smooth Muscle	Colon
10	chr2:86563000-86564200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
11	chr2:86563000-86564200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
12	chr2:86563000-86564200	Flanking Active TSS	Hela-S3	cervix
13	chr2:86563000-86565200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr2:86563000-86565600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr2:86563200-86563800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:86563200-86563800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:86563200-86563800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:86563200-86563800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:86563200-86563800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:86563200-86563800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:86563200-86563800	Flanking Active TSS	Fetal Heart	heart
22	chr2:86563200-86563800	Bivalent Enhancer	Fetal Lung	lung
23	chr2:86563200-86563800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
24	chr2:86563200-86563800	Bivalent Enhancer	A549	lung
25	chr2:86563200-86563800	Bivalent Enhancer	NHEK	skin
26	chr2:86563200-86564000	Bivalent Enhancer	Liver	Liver
27	chr2:86563200-86564000	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr2:86563200-86564000	Bivalent Enhancer	Esophagus	oesophagus
29	chr2:86563200-86564000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
30	chr2:86563200-86564000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr2:86563200-86564000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
32	chr2:86563200-86564000	Enhancers	Spleen	Spleen
33	chr2:86563200-86564200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:86563200-86564200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr2:86563200-86564200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
36	chr2:86563200-86564400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:86563200-86564400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:86563200-86565000	Active TSS	Brain Anterior Caudate	brain
39	chr2:86563400-86563800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
40	chr2:86563400-86563800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
41	chr2:86563400-86563800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:86563400-86563800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:86563400-86563800	Bivalent Enhancer	Colonic Mucosa	Colon
44	chr2:86563400-86563800	Bivalent/Poised TSS	Fetal Stomach	stomach
45	chr2:86563400-86563800	Enhancers	Gastric	stomach
46	chr2:86563400-86563800	Flanking Active TSS	Left Ventricle	heart
47	chr2:86563400-86563800	Flanking Active TSS	HSMMtube	muscle
48	chr2:86563400-86564000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr2:86563400-86564200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:86563400-86564200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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