Variant report

Variant	esv3392564
Chromosome Location	chr2:48009598-48012596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:792)
CpG islands
(count:734)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:792 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:48010391-48010488	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:48009490-48010059	HepG2	liver:	n/a	n/a
3	ATF2	chr2:48009718-48010010	GM12878	blood:	n/a	n/a
4	BACH1	chr2:48010245-48010571	K562	blood:	n/a	n/a
5	BACH1	chr2:48009637-48011559	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL11A	chr2:48009715-48009998	GM12878	blood:	n/a	n/a
7	BCL3	chr2:48009938-48010674	GM12878	blood:	n/a	n/a
8	BCL3	chr2:48010143-48010771	A549	lung:	n/a	chr2:48010665-48010678
9	BCL3	chr2:48010902-48011397	A549	lung:	n/a	chr2:48011038-48011047 chr2:48011040-48011053
10	BCL3	chr2:48010202-48010683	A549	lung:	n/a	chr2:48010665-48010678
11	BCLAF1	chr2:48009585-48010673	GM12878	blood:	n/a	n/a
12	BCLAF1	chr2:48009678-48010485	GM12878	blood:	n/a	n/a
13	BCLAF1	chr2:48011047-48011353	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:48011200-48011553	HepG2	liver:	n/a	n/a
15	BHLHE40	chr2:48010421-48010533	A549	lung:	n/a	n/a
16	BHLHE40	chr2:48009535-48010884	K562	blood:	n/a	n/a
17	BHLHE40	chr2:48009683-48010062	A549	lung:	n/a	n/a
18	BHLHE40	chr2:48011086-48011617	K562	blood:	n/a	n/a
19	BHLHE40	chr2:48011221-48011556	A549	lung:	n/a	n/a
20	BHLHE40	chr2:48009595-48010921	GM12878	blood:	n/a	n/a
21	BHLHE40	chr2:48011150-48011670	GM12878	blood:	n/a	n/a
22	BHLHE40	chr2:48009638-48010632	HepG2	liver:	n/a	n/a
23	BRCA1	chr2:48009448-48010358	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr2:48010300-48010474	HepG2	liver:	n/a	n/a
25	BRCA1	chr2:48009568-48009903	HepG2	liver:	n/a	n/a
26	CBX3	chr2:48009608-48010145	K562	blood:	n/a	n/a
27	CBX3	chr2:48011214-48011558	K562	blood:	n/a	n/a
28	CBX3	chr2:48010174-48010586	K562	blood:	n/a	n/a
29	CBX3	chr2:48010186-48010439	K562	blood:	n/a	n/a
30	CCNT2	chr2:48009723-48011419	K562	blood:	n/a	chr2:48011044-48011053 chr2:48010131-48010140 chr2:48010643-48010652 chr2:48010993-48011002 chr2:48010712-48010721
31	CEBPB	chr2:48010273-48010454	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:48009607-48009851	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:48009521-48009987	IMR90	lung:	n/a	n/a
34	CEBPB	chr2:48008941-48010472	Hela-S3	cervix:	n/a	chr2:48009091-48009102 chr2:48009089-48009100 chr2:48009089-48009102
35	CEBPD	chr2:48009753-48011008	HepG2	liver:	n/a	n/a
36	CEBPD	chr2:48009875-48010435	HepG2	liver:	n/a	n/a
37	CEBPD	chr2:48011034-48011443	HepG2	liver:	n/a	n/a
38	CHD1	chr2:48011145-48011824	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr2:48010366-48010896	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr2:48010309-48010569	GM12878	blood:	n/a	n/a
41	CHD2	chr2:48009655-48010583	K562	blood:	n/a	chr2:48010273-48010283
42	CHD2	chr2:48009477-48011219	Hela-S3	cervix:	n/a	chr2:48011045-48011055 chr2:48010273-48010283
43	CHD2	chr2:48009671-48010970	HepG2	liver:	n/a	chr2:48010273-48010283
44	CHD2	chr2:48009660-48010980	H1-hESC	embryonic stem cell:	n/a	chr2:48010273-48010283
45	CHD2	chr2:48009663-48010939	GM12878	blood:	n/a	chr2:48010273-48010283
46	CREB1	chr2:48009948-48011068	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr2:48009500-48011030	GM12878	blood:	n/a	n/a
48	CREB1	chr2:48011038-48011439	A549	lung:	n/a	n/a
49	CREB1	chr2:48009563-48011435	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr2:48009967-48010362	A549	lung:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:48010105-48010155	HCPEpiC	choroid plexus:	n/a
2	chr2:48009866-48009916	AG04450	lung:	fetal
3	chr2:48010105-48010155	HCPEpiC	choroid plexus:	n/a
4	chr2:48009866-48009916	AG04450	lung:	fetal
5	chr2:48009933-48009983	T-47D	breast:	n/a
6	chr2:48010105-48010155	HMEC	breast:	n/a
7	chr2:48010105-48010155	BE2_C	brain:	n/a
8	chr2:48010097-48010147	HepG2	liver:	n/a
9	chr2:48009933-48009983	HRPEpiC	eye:	n/a
10	chr2:48010336-48010386	PrEC	prostate:	n/a
11	chr2:48009933-48009983	LNCaP	prostate:	n/a
12	chr2:48010362-48010412	AG09319	gingival:	n/a
13	chr2:48010362-48010412	RPTEC	kidney:	n/a
14	chr2:48010336-48010386	HMEC	breast:	n/a
15	chr2:48010105-48010155	GM06990	blood:	n/a
16	chr2:48009698-48009748	HepG2	liver:	n/a
17	chr2:48010362-48010412	NT2-D1	testis:	n/a
18	chr2:48010336-48010386	IMR90	lung:	fetal
19	chr2:48010117-48010167	GM19239	blood:	n/a
20	chr2:48009935-48009985	HMEC	breast:	n/a
21	chr2:48010097-48010147	IMR90	lung:	fetal
22	chr2:48009730-48009780	HAEpiC	amniotic membrane:	n/a
23	chr2:48009730-48009780	HL-60	blood:	n/a
24	chr2:48010117-48010167	HepG2	liver:	n/a
25	chr2:48010362-48010412	GM12891	blood:	n/a
26	chr2:48010105-48010155	HepG2	liver:	n/a
27	chr2:48010105-48010155	NT2-D1	testis:	n/a
28	chr2:48009866-48009916	SKMC	muscle:	n/a
29	chr2:48009730-48009780	H1-hESC	embryonic stem cell:	embryo
30	chr2:48010105-48010155	Jurkat	blood:	n/a
31	chr2:48009698-48009748	AG04450	lung:	fetal
32	chr2:48009809-48009859	AG09319	gingival:	n/a
33	chr2:48010097-48010147	BJ	skin:	n/a
34	chr2:48009935-48009985	RPTEC	kidney:	n/a
35	chr2:48009730-48009780	GM12878	blood:	n/a
36	chr2:48010336-48010386	SK-N-SH_RA	brain:	n/a
37	chr2:48009935-48009985	GM06990	blood:	n/a
38	chr2:48010336-48010386	HCF	heart:	n/a
39	chr2:48009809-48009859	HCT-116	colon:	n/a
40	chr2:48009730-48009780	AG10803	skin:	n/a
41	chr2:48009698-48009748	Jurkat	blood:	n/a
42	chr2:48011201-48011251	HRE	kidney:	n/a
43	chr2:48009935-48009985	PANC-1	pancreas:	n/a
44	chr2:48009809-48009859	ovcar-3	ovarian:	n/a
45	chr2:48009933-48009983	HEK293	kidney:	embryo
46	chr2:48009935-48009985	NHDF-neo	bronchial:	n/a
47	chr2:48009866-48009916	HEK293	kidney:	embryo
48	chr2:48009730-48009780	HRPEpiC	eye:	n/a
49	chr2:48009698-48009748	CMK	blood:	n/a
50	chr2:48009866-48009916	HEEpiC	esophagus:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48010056..48010954-chr3:52570382..52571267,2	Hela-S3	cervix:
2	chr2:47400478..47403818-chr2:48008752..48011597,4	K562	blood:
3	chr2:48009081..48011260-chr2:48666512..48669305,2	K562	blood:
4	chr10:70091529..70092348-chr2:48009738..48010379,2	Hela-S3	cervix:
5	chr2:48009564..48012056-chr2:48131613..48133953,3	MCF-7	breast:
6	chr1:17231455..17232098-chr2:48009621..48010207,2	Hela-S3	cervix:
7	chr12:52444987..52445976-chr2:48009952..48010632,2	Hela-S3	cervix:
8	chr17:62501791..62502687-chr2:48009810..48010670,2	Hela-S3	cervix:
9	chr2:47403115..47403699-chr2:48010169..48010689,2	Hela-S3	cervix:
10	chr2:48009241..48011521-chr2:48133698..48136009,2	K562	blood:
11	chr2:48009330..48011315-chr2:48667151..48669363,2	MCF-7	breast:
12	chr15:75747237..75747762-chr2:48009824..48010450,2	Hela-S3	cervix:
13	chr2:47629900..47631449-chr2:48009384..48011204,2	K562	blood:
14	chr2:48009680..48011593-chr2:48034365..48037361,4	K562	blood:
15	chr2:48010207..48012260-chr2:48541505..48544232,2	K562	blood:
16	chr2:48011141..48015679-chr2:48023292..48025475,4	MCF-7	breast:
17	chr2:48008927..48012318-chr2:48131369..48134669,5	MCF-7	breast:
18	chr2:48009860..48010854-chr5:108745171..108745972,2	Hela-S3	cervix:
19	chr2:48008730..48016091-chr2:48023378..48031018,13	K562	blood:
20	chr16:27279521..27280140-chr2:48009595..48010496,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
MSH6	TF binding region
MSH6	CpG island
ENSG00000169189	chromatin interactions
ENSG00000170802	chromatin interactions
ENSG00000096746	chromatin interactions
ENSG00000233230	chromatin interactions
ENSG00000138081	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000245888	chromatin interactions
ENSG00000168273	chromatin interactions
ENSG00000095002	chromatin interactions
ENSG00000169375	chromatin interactions
ENSG00000272663	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000235369	chromatin interactions
ENSG00000162869	chromatin interactions
ENSG00000198961	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531823218	chr2:48009602-48009603	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs549915279	chr2:48009603-48009604	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs3136227	chr2:48009607-48009608	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539140157	chr2:48009653-48009654	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs550998720	chr2:48009676-48009677	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs566324756	chr2:48009693-48009694	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs533756259	chr2:48009695-48009696	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs190634663	chr2:48009721-48009722	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs573835704	chr2:48009727-48009728	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs368045500	chr2:48009749-48009750	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs182019403	chr2:48009778-48009779	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs183577133	chr2:48009794-48009795	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs3136228	chr2:48009816-48009817	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs369561413	chr2:48009824-48009825	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs374252666	chr2:48009865-48009866	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs545501273	chr2:48009875-48009876	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs3136229	chr2:48009925-48009926	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558875467	chr2:48009945-48009946	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs34907539	chr2:48009950-48009951	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs572366266	chr2:48009998-48009999	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs188265355	chr2:48010028-48010029	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs561427739	chr2:48010032-48010033	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs531880444	chr2:48010052-48010053	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs550004579	chr2:48010059-48010060	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs565124215	chr2:48010070-48010071	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs371260512	chr2:48010085-48010086	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs551212403	chr2:48010111-48010112	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs566524736	chr2:48010135-48010136	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs533561027	chr2:48010160-48010161	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs181096360	chr2:48010163-48010164	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs573117457	chr2:48010168-48010169	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs567494036	chr2:48010192-48010193	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs41540312	chr2:48010214-48010215	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs556432240	chr2:48010255-48010256	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs577888495	chr2:48010267-48010268	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs538807235	chr2:48010276-48010277	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs553984796	chr2:48010302-48010303	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs375109921	chr2:48010322-48010323	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
39	rs113081858	chr2:48010324-48010325	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
40	rs185538282	chr2:48010335-48010336	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs561326741	chr2:48010344-48010345	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs199913053	chr2:48010355-48010356	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs370816858	chr2:48010356-48010357	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs565211544	chr2:48010365-48010366	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs374748889	chr2:48010371-48010372	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs532585602	chr2:48010386-48010387	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs200944853	chr2:48010388-48010389	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs41294986	chr2:48010397-48010398	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs41294988	chr2:48010410-48010411	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs63750664	chr2:48010431-48010432	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47983400-48009600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:47991000-48009600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:48005600-48009600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:48008400-48011400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr2:48008600-48009600	Enhancers	Small Intestine	intestine
6	chr2:48009000-48009600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr2:48009000-48009800	Flanking Active TSS	Hela-S3	cervix
8	chr2:48009000-48011400	Active TSS	Rectal Smooth Muscle	rectum
9	chr2:48009000-48012400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:48009200-48009600	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:48009200-48009600	Enhancers	Fetal Brain Male	brain
12	chr2:48009200-48009600	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr2:48009200-48009800	Flanking Active TSS	Liver	Liver
14	chr2:48009200-48009800	Flanking Active TSS	Placenta	Placenta
15	chr2:48009200-48010000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:48009200-48012000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:48009200-48012200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:48009200-48012400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:48009200-48012600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr2:48009200-48012800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr2:48009200-48012800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr2:48009400-48009600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:48009400-48009600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:48009400-48009600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:48009400-48009600	Enhancers	Primary B cells from peripheral blood	blood
26	chr2:48009400-48009600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr2:48009400-48009600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:48009400-48009600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr2:48009400-48009600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:48009400-48009600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr2:48009400-48009600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:48009400-48009600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr2:48009400-48009600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:48009400-48009600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:48009400-48009600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:48009400-48009600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:48009400-48009600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr2:48009400-48009600	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr2:48009400-48009600	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr2:48009400-48009600	Enhancers	Lung	lung
41	chr2:48009400-48009600	Enhancers	Placenta Amnion	Placenta Amnion
42	chr2:48009400-48009800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:48009400-48009800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:48009400-48009800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr2:48009400-48009800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:48009400-48009800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr2:48009400-48009800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:48009400-48009800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr2:48009400-48009800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr2:48009400-48009800	Flanking Active TSS	Brain Cingulate Gyrus	brain

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