Variant report

Variant	esv3323812
Chromosome Location	chr2:58654573-58657096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:172)
CpG islands
(count:550)
Chromatin interactive
region (count:1)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:172 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr2:58655084-58655478	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:58654529-58655113	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr2:58654842-58655007	HepG2	liver:	n/a	n/a
4	BRCA1	chr2:58654621-58654818	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr2:58655931-58656021	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:58655864-58656114	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr2:58656028-58656717	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr2:58654580-58655502	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr2:58654634-58655552	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr2:58655760-58656407	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr2:58655704-58656193	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr2:58654675-58655588	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr2:58655820-58655970	HepG2	liver:	n/a	n/a
14	CTCF	chr2:58655740-58656030	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr2:58655800-58656131	H1-hESC	embryonic stem cell:	n/a	chr2:58656091-58656104
16	CTCF	chr2:58655756-58656107	H1-hESC	embryonic stem cell:	n/a	chr2:58656091-58656104
17	E2F4	chr2:58654921-58655269	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F6	chr2:58654666-58655410	A549	lung:	n/a	chr2:58654865-58654874
19	E2F6	chr2:58654850-58655310	A549	lung:	n/a	chr2:58654865-58654874
20	E2F6	chr2:58655499-58655619	K562	blood:	n/a	n/a
21	EBF1	chr2:58654903-58654922	GM12878	blood:	n/a	n/a
22	EGR1	chr2:58655914-58656283	H1-hESC	embryonic stem cell:	n/a	chr2:58656060-58656073 chr2:58656059-58656074 chr2:58656058-58656068 chr2:58656063-58656072
23	FOS	chr2:58654969-58655272	MCF10A-Er-Src	breast:	n/a	chr2:58655116-58655124
24	FOS	chr2:58656208-58656390	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr2:58654963-58655227	MCF10A-Er-Src	breast:	n/a	chr2:58655116-58655124
26	FOS	chr2:58655054-58655253	MCF10A-Er-Src	breast:	n/a	chr2:58655116-58655124
27	FOS	chr2:58654967-58655257	MCF10A-Er-Src	breast:	n/a	chr2:58655116-58655124
28	FOXA1	chr2:58655243-58655593	HepG2	liver:	n/a	n/a
29	FOXA1	chr2:58655236-58655578	HepG2	liver:	n/a	n/a
30	FOXA1	chr2:58655336-58655625	T-47D	breast:	n/a	n/a
31	FOXA2	chr2:58655228-58655631	A549	lung:	n/a	n/a
32	FOXA2	chr2:58655197-58655836	A549	lung:	n/a	n/a
33	FOXA2	chr2:58655379-58655617	HepG2	liver:	n/a	n/a
34	GTF2F1	chr2:58655938-58656175	H1-hESC	embryonic stem cell:	n/a	n/a
35	GTF2F1	chr2:58654724-58655049	H1-hESC	embryonic stem cell:	n/a	n/a
36	GTF2F1	chr2:58655415-58655498	H1-hESC	embryonic stem cell:	n/a	n/a
37	HA-E2F1	chr2:58654626-58655583	MCF-7	breast:	n/a	chr2:58654865-58654874
38	HDAC2	chr2:58654688-58655001	H1-hESC	embryonic stem cell:	n/a	chr2:58654813-58654832 chr2:58654864-58654873 chr2:58654866-58654875
39	HDAC2	chr2:58654724-58655173	MCF-7	breast:	n/a	chr2:58654813-58654832 chr2:58654864-58654873 chr2:58654866-58654875
40	HDAC2	chr2:58654674-58654902	H1-hESC	embryonic stem cell:	n/a	chr2:58654813-58654832 chr2:58654864-58654873 chr2:58654866-58654875
41	HNF4A	chr2:58654889-58655185	HepG2	liver:	n/a	n/a
42	JUND	chr2:58655952-58656246	H1-hESC	embryonic stem cell:	n/a	n/a
43	JUND	chr2:58654749-58655515	H1-hESC	embryonic stem cell:	n/a	chr2:58655116-58655124 chr2:58655114-58655125
44	JUND	chr2:58655704-58655826	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUND	chr2:58655012-58655213	HepG2	liver:	n/a	chr2:58655116-58655124 chr2:58655114-58655125
46	JUND	chr2:58655377-58655631	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAFF	chr2:58654903-58655222	HepG2	liver:	n/a	chr2:58655042-58655060
48	MAFK	chr2:58654892-58655209	HepG2	liver:	n/a	chr2:58655043-58655058
49	MAFK	chr2:58654892-58655274	HepG2	liver:	n/a	chr2:58655043-58655058
50	MAFK	chr2:58654706-58655182	H1-hESC	embryonic stem cell:	n/a	chr2:58655043-58655058

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:58656105-58656155	PANC-1	pancreas:	n/a
2	chr2:58656105-58656155	PANC-1	pancreas:	n/a
3	chr2:58655790-58655840	HUVEC	blood vessel:	n/a
4	chr2:58654846-58654896	Hela-S3	cervix:	n/a
5	chr2:58656064-58656114	GM19239	blood:	n/a
6	chr2:58655463-58655513	NHDF-neo	bronchial:	n/a
7	chr2:58654846-58654896	HL-60	blood:	n/a
8	chr2:58655041-58655091	HL-60	blood:	n/a
9	chr2:58655041-58655091	NHDF-neo	bronchial:	n/a
10	chr2:58655537-58655587	SK-N-SH_RA	brain:	n/a
11	chr2:58656064-58656114	AG09309	skin:	n/a
12	chr2:58655041-58655091	SAEC	small airway:	n/a
13	chr2:58654962-58655012	GM19239	blood:	n/a
14	chr2:58655463-58655513	HL-60	blood:	n/a
15	chr2:58656105-58656155	HRE	kidney:	n/a
16	chr2:58655041-58655091	HAEpiC	amniotic membrane:	n/a
17	chr2:58654962-58655012	NB4	blood:	n/a
18	chr2:58654962-58655012	IMR90	lung:	fetal
19	chr2:58656064-58656114	GM12891	blood:	n/a
20	chr2:58656105-58656155	HRCEpiC	kidney:	n/a
21	chr2:58655463-58655513	CMK	blood:	n/a
22	chr2:58655463-58655513	Jurkat	blood:	n/a
23	chr2:58655041-58655091	NH-A	brain:	n/a
24	chr2:58656064-58656114	SAEC	small airway:	n/a
25	chr2:58656064-58656114	NHDF-neo	bronchial:	n/a
26	chr2:58655041-58655091	CMK	blood:	n/a
27	chr2:58655104-58655154	PANC-1	pancreas:	n/a
28	chr2:58655041-58655091	HEK293	kidney:	embryo
29	chr2:58655790-58655840	SK-N-SH_RA	brain:	n/a
30	chr2:58655790-58655840	NB4	blood:	n/a
31	chr2:58655537-58655587	NHBE	bronchial:	n/a
32	chr2:58654962-58655012	HRE	kidney:	n/a
33	chr2:58655104-58655154	NHDF-neo	bronchial:	n/a
34	chr2:58655104-58655154	K562	blood:	n/a
35	chr2:58654962-58655012	BE2_C	brain:	n/a
36	chr2:58654846-58654896	HNPCEpiC	eye:	n/a
37	chr2:58655463-58655513	GM06990	blood:	n/a
38	chr2:58654962-58655012	T-47D	breast:	n/a
39	chr2:58655537-58655587	AoSMC	blood vessel:	n/a
40	chr2:58656105-58656155	HCT-116	colon:	n/a
41	chr2:58655463-58655513	K562	blood:	n/a
42	chr2:58655790-58655840	PFSK-1	brain:	n/a
43	chr2:58656064-58656114	HCT-116	colon:	n/a
44	chr2:58654962-58655012	AG04450	lung:	fetal
45	chr2:58655790-58655840	GM06990	blood:	n/a
46	chr2:58655537-58655587	A549	lung:	n/a
47	chr2:58654962-58655012	A549	lung:	n/a
48	chr2:58654962-58655012	HPAEpiC	pulmonary alveolar:	n/a
49	chr2:58655041-58655091	GM12892	blood:	n/a
50	chr2:58655463-58655513	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58656753..58658375-chr2:58658620..58660372,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VRK2-5	chr2:58654934-58655115	ENSG00000233723
2	lnc-VRK2-5	chr2:58655519-58655599	ENSG00000233723
3	lnc-VRK2-5	chr2:58655168-58655253	ENSG00000233723
4	lnc-VRK2-5	chr2:58655520-58655599	ENSG00000233723
5	lnc-VRK2-5	chr2:58655520-58655599	ENSG00000233723.3
6	lnc-VRK2-5	chr2:58655519-58655599	ENSG00000233723
7	lnc-VRK2-5	chr2:58655473-58655599	ENSG00000233723
8	lnc-VRK2-5	chr2:58655473-58655599	ENSG00000233723
9	lnc-VRK2-5	chr2:58655455-58655599	NONHSAT070858

No data

Variant related genes	Relation type
LINC01122	TF binding region
LINC01122	CpG island

Extended variants
information (count: 91 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547265206	chr2:58654618-58654619	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs370074618	chr2:58654621-58654622	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs111473693	chr2:58654630-58654631	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs566225919	chr2:58654665-58654666	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs539787095	chr2:58654678-58654679	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs207461800	chr2:58654682-58654683	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs558027910	chr2:58654701-58654702	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs576460901	chr2:58654772-58654773	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs537433798	chr2:58654773-58654774	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs149629175	chr2:58654786-58654787	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs558844785	chr2:58654803-58654804	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs574469809	chr2:58654819-58654820	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs541863667	chr2:58654849-58654850	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs560129144	chr2:58654857-58654858	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs371439879	chr2:58654867-58654868	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs145875969	chr2:58654890-58654891	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs572266063	chr2:58654932-58654933	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376381598	chr2:58654935-58654936	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs62140778	chr2:58654944-58654945	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369696307	chr2:58654964-58654965	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs531601244	chr2:58654966-58654967	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs550218110	chr2:58654994-58654995	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs542756106	chr2:58655018-58655019	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs562066512	chr2:58655114-58655115	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs185871965	chr2:58655189-58655190	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs561031669	chr2:58655224-58655225	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs547863831	chr2:58655237-58655238	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs566190653	chr2:58655334-58655335	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs370608727	chr2:58655388-58655389	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs374191385	chr2:58655392-58655393	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs368403486	chr2:58655396-58655397	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs372078524	chr2:58655400-58655401	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs539625469	chr2:58655428-58655429	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs190345664	chr2:58655437-58655438	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs570030808	chr2:58655461-58655462	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs537321382	chr2:58655566-58655567	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
37	rs555890328	chr2:58655576-58655577	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
38	rs568037991	chr2:58655589-58655590	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
39	rs535243591	chr2:58655596-58655597	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
40	rs374222945	chr2:58655626-58655627	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs373919511	chr2:58655759-58655760	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs553807048	chr2:58655785-58655786	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs368476892	chr2:58655794-58655795	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs10589511	chr2:58655821-58655822	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs572303197	chr2:58655848-58655849	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs531962334	chr2:58655856-58655857	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs546034169	chr2:58655877-58655878	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs557955020	chr2:58655895-58655896	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs113273675	chr2:58655952-58655953	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs576405176	chr2:58656054-58656055	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58652000-58654600	Enhancers	Brain Cingulate Gyrus	brain
2	chr2:58652400-58654600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:58653200-58654600	Weak transcription	Brain Angular Gyrus	brain
4	chr2:58654000-58654600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:58654000-58654600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:58654000-58655400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:58654200-58654600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:58654200-58654600	Enhancers	Brain Germinal Matrix	brain
9	chr2:58654200-58654600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:58654200-58654600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:58654200-58654600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:58654200-58654600	Active TSS	Fetal Brain Male	brain
13	chr2:58654200-58654600	Enhancers	Fetal Intestine Small	intestine
14	chr2:58654200-58654600	Enhancers	Ovary	ovary
15	chr2:58654200-58654800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:58654200-58654800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr2:58654200-58654800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr2:58654200-58655000	Flanking Active TSS	Fetal Heart	heart
19	chr2:58654200-58655200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:58654200-58655200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr2:58654200-58655400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr2:58654200-58655400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:58654200-58656000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:58654400-58654600	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr2:58654400-58654600	Flanking Active TSS	Fetal Lung	lung
26	chr2:58654400-58654600	Enhancers	Fetal Thymus	thymus
27	chr2:58654400-58654600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:58654400-58654600	Bivalent Enhancer	NHEK	skin
29	chr2:58654400-58654800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr2:58654400-58654800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr2:58654400-58654800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr2:58654400-58654800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr2:58654400-58654800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:58654400-58654800	Bivalent Enhancer	Liver	Liver
35	chr2:58654400-58654800	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr2:58654400-58654800	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr2:58654400-58654800	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr2:58654400-58654800	Flanking Active TSS	Fetal Kidney	kidney
39	chr2:58654400-58654800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr2:58654400-58654800	Flanking Active TSS	Thymus	Thymus
41	chr2:58654400-58654800	Flanking Bivalent TSS/Enh	A549	lung
42	chr2:58654400-58655000	Bivalent Enhancer	Stomach Mucosa	stomach
43	chr2:58654400-58655200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:58654400-58656200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:58654400-58656200	Active TSS	Fetal Stomach	stomach
46	chr2:58654400-58656400	Active TSS	H1 Cell Line	embryonic stem cell
47	chr2:58654400-58656400	Active TSS	Fetal Brain Female	brain
48	chr2:58654400-58656600	Active TSS	NH-A	brain
49	chr2:58654400-58657000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:58654600-58654800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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