Variant report

Variant	esv3314151
Chromosome Location	chr17:20058385-20061233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:20059136-20059256	K562	blood:	n/a	n/a
2	ATF2	chr17:20058615-20059310	GM12878	blood:	n/a	n/a
3	ATF2	chr17:20058419-20059429	GM12878	blood:	n/a	n/a
4	BACH1	chr17:20058917-20059433	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr17:20059633-20059922	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr17:20058510-20058896	GM12878	blood:	n/a	n/a
7	BATF	chr17:20058437-20059307	GM12878	blood:	n/a	n/a
8	BCL11A	chr17:20058472-20058844	GM12878	blood:	n/a	n/a
9	BCL11A	chr17:20058856-20059315	GM12878	blood:	n/a	n/a
10	BCL3	chr17:20058724-20059784	A549	lung:	n/a	n/a
11	BCL3	chr17:20058926-20059474	GM12878	blood:	n/a	n/a
12	BCLAF1	chr17:20058773-20059391	GM12878	blood:	n/a	n/a
13	BHLHE40	chr17:20058838-20060389	K562	blood:	n/a	chr17:20060204-20060217 chr17:20059224-20059240 chr17:20060206-20060215 chr17:20059567-20059583 chr17:20060205-20060214
14	BHLHE40	chr17:20058529-20060512	GM12878	blood:	n/a	chr17:20060204-20060217 chr17:20059224-20059240 chr17:20060206-20060215 chr17:20059567-20059583 chr17:20060205-20060214
15	BHLHE40	chr17:20060075-20060316	HepG2	liver:	n/a	chr17:20060204-20060217 chr17:20060206-20060215 chr17:20060205-20060214
16	BRCA1	chr17:20059756-20059925	GM12878	blood:	n/a	n/a
17	BRCA1	chr17:20059057-20059999	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr17:20059528-20059725	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr17:20058470-20058485	GM12878	blood:	n/a	n/a
20	CBX3	chr17:20058917-20059316	K562	blood:	n/a	n/a
21	CCNT2	chr17:20058984-20060125	K562	blood:	n/a	chr17:20059587-20059596
22	CEBPB	chr17:20059505-20059913	A549	lung:	n/a	chr17:20059704-20059715 chr17:20059703-20059714
23	CEBPB	chr17:20059482-20059933	A549	lung:	n/a	chr17:20059704-20059715 chr17:20059703-20059714
24	CEBPB	chr17:20059305-20060096	A549	lung:	n/a	chr17:20059704-20059715 chr17:20059703-20059714
25	CEBPB	chr17:20059521-20059900	HepG2	liver:	n/a	chr17:20059704-20059715 chr17:20059703-20059714
26	CEBPB	chr17:20059628-20059793	HepG2	liver:	n/a	chr17:20059704-20059715 chr17:20059703-20059714
27	CEBPB	chr17:20059344-20059941	IMR90	lung:	n/a	chr17:20059704-20059715 chr17:20059703-20059714
28	CEBPB	chr17:20059482-20059915	MCF-7	breast:	n/a	chr17:20059704-20059715 chr17:20059703-20059714
29	CEBPB	chr17:20059226-20059934	HepG2	liver:	n/a	chr17:20059704-20059715 chr17:20059703-20059714
30	CEBPB	chr17:20059453-20059996	ECC-1	luminal epithelium:	n/a	chr17:20059704-20059715 chr17:20059703-20059714
31	CEBPB	chr17:20058963-20061041	Hela-S3	cervix:	n/a	chr17:20059704-20059715 chr17:20059703-20059714
32	CEBPB	chr17:20059533-20059898	K562	blood:	n/a	chr17:20059704-20059715 chr17:20059703-20059714
33	CEBPB	chr17:20059568-20059857	ECC-1	luminal epithelium:	n/a	chr17:20059704-20059715 chr17:20059703-20059714
34	CEBPB	chr17:20058910-20060106	HCT-116	colon:	n/a	chr17:20059704-20059715 chr17:20059703-20059714
35	CEBPB	chr17:20059457-20059911	MCF-7	breast:	n/a	chr17:20059704-20059715 chr17:20059703-20059714
36	CEBPB	chr17:20059326-20060127	H1-hESC	embryonic stem cell:	n/a	chr17:20059704-20059715 chr17:20059703-20059714
37	CHD1	chr17:20059426-20060529	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr17:20059143-20059223	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr17:20059352-20060116	GM12878	blood:	n/a	n/a
40	CHD2	chr17:20058926-20059798	GM12878	blood:	n/a	chr17:20059278-20059288 chr17:20059216-20059226
41	CHD2	chr17:20058923-20060634	Hela-S3	cervix:	n/a	chr17:20059278-20059288 chr17:20059216-20059226
42	CHD2	chr17:20058981-20059989	H1-hESC	embryonic stem cell:	n/a	chr17:20059278-20059288 chr17:20059216-20059226
43	CHD2	chr17:20058951-20059785	HepG2	liver:	n/a	chr17:20059278-20059288 chr17:20059216-20059226
44	CHD2	chr17:20059419-20059711	K562	blood:	n/a	n/a
45	CREB1	chr17:20058946-20059984	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr17:20059006-20060112	A549	lung:	n/a	n/a
47	CREB1	chr17:20058978-20059919	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTBP2	chr17:20059005-20060165	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr17:20059060-20059210	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr17:20059253-20059388	Lung_OC	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20059137-20059187	GM12892	blood:	n/a
2	chr17:20059137-20059187	GM12892	blood:	n/a
3	chr17:20060457-20060507	HCM	heart:	n/a
4	chr17:20059054-20059104	HCPEpiC	choroid plexus:	n/a
5	chr17:20059344-20059394	GM12878	blood:	n/a
6	chr17:20059344-20059394	GM06990	blood:	n/a
7	chr17:20059957-20060007	RPTEC	kidney:	n/a
8	chr17:20059957-20060007	HRCEpiC	kidney:	n/a
9	chr17:20059411-20059461	HepG2	liver:	n/a
10	chr17:20059225-20059275	AG09309	skin:	n/a
11	chr17:20058819-20058869	IMR90	lung:	fetal
12	chr17:20059331-20059381	AG04449	skin:	fetal
13	chr17:20059957-20060007	PFSK-1	brain:	n/a
14	chr17:20059344-20059394	SK-N-SH	brain:	n/a
15	chr17:20059106-20059156	HMEC	breast:	n/a
16	chr17:20059234-20059284	T-47D	breast:	n/a
17	chr17:20059344-20059394	K562	blood:	n/a
18	chr17:20059327-20059377	HEEpiC	esophagus:	n/a
19	chr17:20059327-20059377	HIPEpiC	eye:	n/a
20	chr17:20059227-20059277	AG04449	skin:	fetal
21	chr17:20059137-20059187	BE2_C	brain:	n/a
22	chr17:20060457-20060507	HRE	kidney:	n/a
23	chr17:20059411-20059461	HL-60	blood:	n/a
24	chr17:20059054-20059104	HNPCEpiC	eye:	n/a
25	chr17:20059957-20060007	NHBE	bronchial:	n/a
26	chr17:20059225-20059275	HEK293	kidney:	embryo
27	chr17:20060311-20060361	A549	lung:	n/a
28	chr17:20059344-20059394	IMR90	lung:	fetal
29	chr17:20059225-20059275	PrEC	prostate:	n/a
30	chr17:20059327-20059377	HAEpiC	amniotic membrane:	n/a
31	chr17:20060311-20060361	AG04450	lung:	fetal
32	chr17:20059137-20059187	HNPCEpiC	eye:	n/a
33	chr17:20059327-20059377	SK-N-SH_RA	brain:	n/a
34	chr17:20058819-20058869	ProgFib	skin:	n/a
35	chr17:20059106-20059156	ovcar-3	ovarian:	n/a
36	chr17:20059344-20059394	U87	brain:	n/a
37	chr17:20060311-20060361	SK-N-SH	brain:	n/a
38	chr17:20060457-20060507	HRPEpiC	eye:	n/a
39	chr17:20059054-20059104	Caco-2	colon:	n/a
40	chr17:20059331-20059381	ovcar-3	ovarian:	n/a
41	chr17:20060457-20060507	IMR90	lung:	fetal
42	chr17:20060457-20060507	HCT-116	colon:	n/a
43	chr17:20059327-20059377	HEK293	kidney:	embryo
44	chr17:20060038-20060088	Caco-2	colon:	n/a
45	chr17:20060311-20060361	Hela-S3	cervix:	n/a
46	chr17:20059957-20060007	HCM	heart:	n/a
47	chr17:20059029-20059079	MCF-7	breast:	n/a
48	chr17:20060457-20060507	HEK293	kidney:	embryo
49	chr17:20059054-20059104	T-47D	breast:	n/a
50	chr17:20059238-20059288	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:20059180..20059804-chr5:108745357..108746183,2	Hela-S3	cervix:
2	chr17:20059521..20061143-chr17:20081573..20083266,2	MCF-7	breast:
3	chr17:20057192..20060270-chr17:20108096..20110844,3	K562	blood:
4	chr17:20058693..20060833-chr17:20107962..20111201,3	MCF-7	breast:
5	chr1:151253915..151254758-chr17:20058799..20059680,2	Hela-S3	cervix:
6	chr17:19988478..19990422-chr17:20059544..20061745,2	MCF-7	breast:
7	chr17:19878871..19883594-chr17:20057277..20060362,4	K562	blood:
8	chr17:20027673..20031271-chr17:20059449..20061879,3	MCF-7	breast:

Variant related genes	Relation type
SPECC1	TF binding region
SPECC1	CpG island
ENSG00000143373	chromatin interactions
ENSG00000198961	chromatin interactions
ENSG00000128487	chromatin interactions
ENSG00000108599	chromatin interactions
ENSG00000232671	chromatin interactions
ENSG00000212186	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529453605	chr17:20058420-20058421	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs549154679	chr17:20058439-20058440	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs562889070	chr17:20058484-20058485	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs143556458	chr17:20058496-20058497	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs10438824	chr17:20058510-20058511	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs561124924	chr17:20058563-20058564	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs559720087	chr17:20058568-20058569	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs570229575	chr17:20058590-20058591	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs148045169	chr17:20058611-20058612	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs534156256	chr17:20058616-20058617	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs185725836	chr17:20058655-20058656	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs114095112	chr17:20058689-20058690	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs567527440	chr17:20058753-20058754	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs536492660	chr17:20058784-20058785	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs556300627	chr17:20058792-20058793	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs72830165	chr17:20058819-20058820	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538742429	chr17:20058871-20058872	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs376394721	chr17:20058920-20058921	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs375638786	chr17:20058939-20058940	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs190132701	chr17:20058948-20058949	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs540581468	chr17:20058976-20058977	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs549457195	chr17:20058989-20058990	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs560451555	chr17:20059042-20059043	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs140828285	chr17:20059054-20059055	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs542843691	chr17:20059087-20059088	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs563085983	chr17:20059116-20059117	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs531781102	chr17:20059127-20059128	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs551873946	chr17:20059199-20059200	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs369357234	chr17:20059217-20059218	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs565188289	chr17:20059253-20059254	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs527697019	chr17:20059288-20059289	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs547804228	chr17:20059321-20059322	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs567593630	chr17:20059323-20059324	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs62066869	chr17:20059342-20059343	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs534740086	chr17:20059344-20059345	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs182777885	chr17:20059350-20059351	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs373920002	chr17:20059356-20059357	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs538405581	chr17:20059383-20059384	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs558625330	chr17:20059393-20059394	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs565426048	chr17:20059396-20059397	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs534360862	chr17:20059416-20059417	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs568894066	chr17:20059447-20059448	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs554124645	chr17:20059557-20059558	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs574030351	chr17:20059559-20059560	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs118085302	chr17:20059583-20059584	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs556553696	chr17:20059584-20059585	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs576583123	chr17:20059591-20059592	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs3833861	chr17:20059592-20059593	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs200072578	chr17:20059596-20059597	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs558898635	chr17:20059597-20059598	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:151)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20029600-20058800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:20032000-20058600	Weak transcription	A549	lung
3	chr17:20042800-20058400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:20045400-20058400	Weak transcription	K562	blood
5	chr17:20047400-20058400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:20052800-20058800	Weak transcription	Adipose Nuclei	Adipose
7	chr17:20052800-20058800	Weak transcription	Aorta	Aorta
8	chr17:20053000-20058400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:20053000-20058600	Weak transcription	Brain Substantia Nigra	brain
10	chr17:20053200-20058400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:20053200-20058400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr17:20054600-20058800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr17:20054800-20058400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr17:20055000-20058400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr17:20055000-20058600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:20055000-20058600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr17:20055000-20058600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr17:20056200-20058800	Enhancers	Primary B cells from peripheral blood	blood
19	chr17:20056600-20058800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr17:20057000-20058400	Enhancers	GM12878-XiMat	blood
21	chr17:20057000-20058600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr17:20057000-20058800	Weak transcription	Brain Hippocampus Middle	brain
23	chr17:20057000-20058800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr17:20057000-20059000	Weak transcription	Colonic Mucosa	Colon
25	chr17:20057200-20058800	Weak transcription	Esophagus	oesophagus
26	chr17:20057400-20058400	Weak transcription	Primary B cells from cord blood	blood
27	chr17:20057400-20058800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr17:20057600-20058600	Enhancers	Brain Angular Gyrus	brain
29	chr17:20057600-20058800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr17:20057800-20058400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr17:20057800-20058800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr17:20058000-20058600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr17:20058000-20058600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:20058000-20058600	Enhancers	HMEC	breast
35	chr17:20058000-20058800	Enhancers	Primary hematopoietic stem cells	blood
36	chr17:20058000-20059000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:20058000-20059000	Enhancers	Fetal Heart	heart
38	chr17:20058200-20058400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
39	chr17:20058200-20058400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr17:20058200-20058400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr17:20058200-20058400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr17:20058200-20058400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:20058200-20058600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:20058200-20058600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr17:20058200-20058600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr17:20058200-20058600	Enhancers	NHEK	skin
47	chr17:20058200-20058800	Enhancers	Brain Cingulate Gyrus	brain
48	chr17:20058200-20059000	Weak transcription	Spleen	Spleen
49	chr17:20058400-20058600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
50	chr17:20058400-20058600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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