Variant report

Variant	nsv978389
Chromosome Location	chr17:20291514-20489527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:871)
CpG islands
(count:1831)
Chromatin interactive
region (count:1)
LncRNA
region (count:36)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:871 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:20388438-20388633	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr17:20339605-20339854	GM12878	blood:	n/a	chr17:20339773-20339784 chr17:20339774-20339784
3	BATF	chr17:20449270-20449503	GM12878	blood:	n/a	n/a
4	BATF	chr17:20339552-20339955	GM12878	blood:	n/a	chr17:20339773-20339784 chr17:20339774-20339784
5	BATF	chr17:20370787-20371117	GM12878	blood:	n/a	n/a
6	BATF	chr17:20354311-20354673	GM12878	blood:	n/a	chr17:20354476-20354487
7	BATF	chr17:20443708-20444186	GM12878	blood:	n/a	n/a
8	BATF	chr17:20443556-20444223	GM12878	blood:	n/a	n/a
9	BATF	chr17:20354345-20354597	GM12878	blood:	n/a	chr17:20354476-20354487
10	BATF	chr17:20370764-20371076	GM12878	blood:	n/a	n/a
11	BCL11A	chr17:20372530-20372862	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:20371063-20371231	GM12878	blood:	n/a	n/a
13	BCL11A	chr17:20443676-20444145	GM12878	blood:	n/a	n/a
14	BCL11A	chr17:20443777-20444111	GM12878	blood:	n/a	n/a
15	BCL11A	chr17:20370806-20371041	GM12878	blood:	n/a	n/a
16	BCL11A	chr17:20370709-20371057	GM12878	blood:	n/a	n/a
17	BCL11A	chr17:20326172-20326448	GM12878	blood:	n/a	n/a
18	BCL3	chr17:20438566-20438789	GM12878	blood:	n/a	n/a
19	BHLHE40	chr17:20354420-20354612	K562	blood:	n/a	n/a
20	CEBPB	chr17:20474412-20474706	A549	lung:	n/a	chr17:20474573-20474584
21	CEBPB	chr17:20432902-20433054	IMR90	lung:	n/a	chr17:20432946-20432955 chr17:20432944-20432957 chr17:20432944-20432955
22	CEBPB	chr17:20388357-20388509	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr17:20474531-20474698	IMR90	lung:	n/a	chr17:20474573-20474584
24	CEBPB	chr17:20469063-20469069	K562	blood:	n/a	n/a
25	CEBPB	chr17:20432904-20432946	K562	blood:	n/a	n/a
26	CEBPB	chr17:20474504-20474704	Hela-S3	cervix:	n/a	chr17:20474573-20474584
27	CEBPB	chr17:20474419-20474705	HepG2	liver:	n/a	chr17:20474573-20474584
28	CEBPB	chr17:20428677-20428912	K562	blood:	n/a	n/a
29	CEBPB	chr17:20432878-20433065	A549	lung:	n/a	chr17:20432946-20432955 chr17:20432944-20432957 chr17:20432944-20432955
30	CEBPB	chr17:20468918-20469141	HepG2	liver:	n/a	chr17:20469062-20469073
31	CEBPB	chr17:20469051-20469059	Hela-S3	cervix:	n/a	n/a
32	CHD1	chr17:20434510-20434553	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr17:20359413-20359524	GM19240	blood:	n/a	n/a
34	CTCF	chr17:20350258-20350494	GM12878	blood:	n/a	n/a
35	CTCF	chr17:20347028-20347223	Lung_OC	lung:	n/a	n/a
36	CTCF	chr17:20405332-20405337	GM13976	blood:	n/a	n/a
37	CTCF	chr17:20350400-20350550	GM12875	blood:	n/a	n/a
38	CTCF	chr17:20473805-20473839	GM13976	blood:	n/a	n/a
39	CTCF	chr17:20347015-20347261	LNCaP	prostate:	n/a	n/a
40	CTCF	chr17:20350440-20350590	HRE	kidney:	n/a	n/a
41	CTCF	chr17:20487293-20487541	MCF-7	breast:	n/a	n/a
42	CTCF	chr17:20378584-20378697	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr17:20405281-20405489	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr17:20350247-20350493	NHEK	skin:	n/a	n/a
45	CTCF	chr17:20346980-20347130	SAEC	small airway:	n/a	n/a
46	CTCF	chr17:20350244-20350524	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr17:20350420-20350570	HVMF	connective:	n/a	n/a
48	CTCF	chr17:20350440-20350590	BJ	skin:	n/a	n/a
49	CTCF	chr17:20445558-20445742	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr17:20368168-20368198	GM10248	blood:	n/a	n/a

(count:1831 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20467831-20467881	HEEpiC	esophagus:	n/a
2	chr17:20467831-20467881	HEEpiC	esophagus:	n/a
3	chr17:20467831-20467881	A549	lung:	n/a
4	chr17:20409125-20409175	ProgFib	skin:	n/a
5	chr17:20460627-20460677	HEK293	kidney:	embryo
6	chr17:20408647-20408697	BJ	skin:	n/a
7	chr17:20450484-20450534	MCF10A-Er-Src	breast:	n/a
8	chr17:20467965-20468015	HepG2	liver:	n/a
9	chr17:20467831-20467881	NHBE	bronchial:	n/a
10	chr17:20480574-20480624	T-47D	breast:	n/a
11	chr17:20481830-20481880	LNCaP	prostate:	n/a
12	chr17:20450466-20450516	U87	brain:	n/a
13	chr17:20408772-20408822	U87	brain:	n/a
14	chr17:20480574-20480624	HUVEC	blood vessel:	n/a
15	chr17:20433187-20433237	GM12891	blood:	n/a
16	chr17:20445757-20445807	HRE	kidney:	n/a
17	chr17:20370597-20370647	GM12891	blood:	n/a
18	chr17:20450466-20450516	IMR90	lung:	fetal
19	chr17:20446526-20446576	HRPEpiC	eye:	n/a
20	chr17:20458986-20459036	Hepatocyte	liver:	n/a
21	chr17:20450484-20450534	MCF-7	breast:	n/a
22	chr17:20467917-20467967	H1-hESC	embryonic stem cell:	embryo
23	chr17:20450466-20450516	Hepatocyte	liver:	n/a
24	chr17:20408647-20408697	AG04449	skin:	fetal
25	chr17:20346491-20346541	ECC-1	luminal epithelium:	n/a
26	chr17:20408772-20408822	GM06990	blood:	n/a
27	chr17:20326541-20326591	HCPEpiC	choroid plexus:	n/a
28	chr17:20465437-20465487	K562	blood:	n/a
29	chr17:20464366-20464416	Hepatocyte	liver:	n/a
30	chr17:20326541-20326591	AG04449	skin:	fetal
31	chr17:20480574-20480624	GM12878	blood:	n/a
32	chr17:20448558-20448608	HMEC	breast:	n/a
33	chr17:20450484-20450534	SK-N-SH_RA	brain:	n/a
34	chr17:20467917-20467967	HAEpiC	amniotic membrane:	n/a
35	chr17:20346491-20346541	ProgFib	skin:	n/a
36	chr17:20408772-20408822	IMR90	lung:	fetal
37	chr17:20480574-20480624	MCF10A-Er-Src	breast:	n/a
38	chr17:20408772-20408822	NT2-D1	testis:	n/a
39	chr17:20467831-20467881	SKMC	muscle:	n/a
40	chr17:20460627-20460677	GM19239	blood:	n/a
41	chr17:20458986-20459036	HNPCEpiC	eye:	n/a
42	chr17:20454132-20454182	HCM	heart:	n/a
43	chr17:20339878-20339928	HRPEpiC	eye:	n/a
44	chr17:20454132-20454182	PFSK-1	brain:	n/a
45	chr17:20370597-20370647	GM12892	blood:	n/a
46	chr17:20346491-20346541	HCM	heart:	n/a
47	chr17:20370597-20370647	ProgFib	skin:	n/a
48	chr17:20326541-20326591	NHBE	bronchial:	n/a
49	chr17:20460588-20460638	IMR90	lung:	fetal
50	chr17:20339878-20339928	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:18289123..18291183-chr17:20462480..20465308,2	MCF-7	breast:

(count:36 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALS9B-2	chr17:20479798-20480255	XLOC_012419
2	lnc-LGALS9B-1	chr17:20433355-20434194	ENSG00000260907.1
3	lnc-LGALS9B-4	chr17:20375554-20376706	ucscGeneNc_uc002gxd_1
4	lnc-LGALS9B-2	chr17:20478895-20479172	XLOC_012419
5	lnc-LGALS9B-13	chr17:20458740-20458896	NONHSAT146793
6	lnc-LGALS9B-2	chr17:20478827-20479172	XLOC_012419
7	lnc-LGALS9B-2	chr17:20478895-20479010	XLOC_012419
8	lnc-LGALS9B-2	chr17:20479980-20480210	ENSG00000264422.1
9	lnc-LGALS9B-12	chr17:20446287-20446510	NONHSAT146601
10	lnc-LGALS9B-2	chr17:20481940-20482061	ENSG00000264422.1
11	lnc-CCDC144NL-9	chr17:20354914-20355028	NONHSAT146573
12	lnc-CCDC144C-1	chr17:20294788-20295081	NR_023380
13	lnc-LGALS9B-12	chr17:20447359-20447436	NONHSAT146601
14	lnc-CCDC144NL-9	chr17:20355664-20355708	NONHSAT146574
15	lnc-LGALS9B-13	chr17:20462661-20462723	NONHSAT146793
16	lnc-LGALS9B-4	chr17:20373955-20374185	ucscGeneNc_uc002gxd_1
17	lnc-CCDC144C-1	chr17:20305369-20305504	NR_023380
18	lnc-LGALS9B-2	chr17:20481940-20482234	XLOC_012419
19	lnc-LGALS9B-2	chr17:20479866-20480107	XLOC_012419
20	lnc-CCDC144C-1	chr17:20295677-20295897	NR_023380
21	lnc-CCDC144NL-9	chr17:20355135-20355196	NONHSAT146574
22	lnc-FAM106B-1	chr17:20320741-20322363	NONHSAT146570
23	lnc-LGALS9B-13	chr17:20459470-20459532	NONHSAT146793
24	lnc-FAM106B-2	chr17:20337350-20337598	ENSG00000265556.1
25	lnc-CCDC144NL-9	chr17:20355108-20355484	NONHSAT146573
26	lnc-FAM106B-2	chr17:20336519-20336570	ENSG00000265556.1
27	lnc-LGALS9B-2	chr17:20481940-20482234	XLOC_012419
28	lnc-LGALS9B-2	chr17:20479798-20480107	XLOC_012419
29	lnc-LGALS9B-10	chr17:20435561-20436194	NONHSAT146584
30	lnc-LGALS9B-7	chr17:20410726-20412244	ENSG00000266925.1
31	lnc-LGALS9B-2	chr17:20479798-20480107	XLOC_012419
32	lnc-LGALS9B-2	chr17:20481940-20482149	XLOC_012419
33	lnc-FAM106B-1	chr17:20320763-20321272	NONHSAT146571
34	lnc-CCDC144C-1	chr17:20303834-20303876	NR_023380
35	lnc-LGALS9B-12	chr17:20446789-20446842	NONHSAT146601
36	lnc-CCDC144NL-9	chr17:20356330-20356786	NONHSAT146574

No data

Variant related genes	Relation type
ENSG00000260907	TF binding region
YWHAEP3	TF binding region
ENSG00000266042	TF binding region
FAM106B	TF binding region
NOS2P3	TF binding region
KRT16P5	TF binding region
ENSG00000266925	TF binding region
ENSG00000263946	TF binding region
ENSG00000230339	TF binding region
ENSG00000265916	TF binding region
ENSG00000205215	TF binding region
COTL1P2	TF binding region
USP32P3	TF binding region
ENSG00000231645	TF binding region
MEIS3P2	TF binding region
ENSG00000264422	TF binding region
TBC1D3P3	TF binding region
SRP68P3	TF binding region
KRT16P3	TF binding region
ENSG00000229586	TF binding region
ENSG00000265556	TF binding region
LGALS9B	TF binding region
ENSG00000264981	TF binding region
ENSG00000267075	TF binding region
CDRT15L2	TF binding region
ENSG00000260907	CpG island
YWHAEP3	CpG island
ENSG00000266042	CpG island
FAM106B	CpG island
NOS2P3	CpG island
KRT16P5	CpG island
ENSG00000266925	CpG island
ENSG00000263946	CpG island
ENSG00000230339	CpG island
ENSG00000265916	CpG island
ENSG00000205215	CpG island
COTL1P2	CpG island
USP32P3	CpG island
ENSG00000231645	CpG island
MEIS3P2	CpG island
ENSG00000264422	CpG island
TBC1D3P3	CpG island
SRP68P3	CpG island
KRT16P3	CpG island
ENSG00000229586	CpG island
ENSG00000265556	CpG island
LGALS9B	CpG island
ENSG00000264981	CpG island
ENSG00000267075	CpG island
CDRT15L2	CpG island
ENSG00000214860	chromatin interactions
RNF125	miRNA target sites
GTF3C4	miRNA target sites
VPS4B	miRNA target sites

Extended variants
information (count: 4005 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:4005 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186405761	chr17:20291524-20291525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148408577	chr17:20291550-20291551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564773812	chr17:20291563-20291564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566642296	chr17:20291598-20291599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144988873	chr17:20291628-20291629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565224760	chr17:20291657-20291658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571086025	chr17:20291667-20291668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112291584	chr17:20291695-20291696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538148091	chr17:20291722-20291723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2694234	chr17:20291735-20291736	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs575113801	chr17:20291767-20291768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9897871	chr17:20291779-20291780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs554676271	chr17:20291852-20291853	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs572975875	chr17:20291873-20291874	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs540385987	chr17:20291889-20291890	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs564920709	chr17:20291960-20291961	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs577012495	chr17:20292063-20292064	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs544159268	chr17:20292072-20292073	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs562838407	chr17:20292128-20292129	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs530005847	chr17:20292133-20292134	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs548200589	chr17:20292140-20292141	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560166485	chr17:20292161-20292162	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs527791260	chr17:20292238-20292239	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs552681142	chr17:20292247-20292248	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs570933711	chr17:20292278-20292279	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs144297563	chr17:20292314-20292315	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs182075870	chr17:20292356-20292357	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs16941857	chr17:20292395-20292396	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs536205373	chr17:20292448-20292449	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs554612096	chr17:20292485-20292486	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs572915577	chr17:20292487-20292488	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs566454468	chr17:20292505-20292506	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs558649587	chr17:20292576-20292577	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs202156910	chr17:20294824-20294825	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs545837489	chr17:20294974-20294975	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs558120699	chr17:20294978-20294979	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs554975406	chr17:20294984-20294985	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs188508865	chr17:20295686-20295687	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs562615194	chr17:20295706-20295707	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs539714524	chr17:20295709-20295710	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs557793239	chr17:20295713-20295714	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs199643662	chr17:20295789-20295790	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs145016780	chr17:20295808-20295809	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs370969623	chr17:20295809-20295810	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs2656406	chr17:20295824-20295825	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs555871491	chr17:20295848-20295849	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs575100453	chr17:20295866-20295867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs554129378	chr17:20303857-20303858	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs564584494	chr17:20304028-20304029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188209556	chr17:20304047-20304048	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:152)

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
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
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
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20291200-20291800	Enhancers	Thymus	Thymus
2	chr17:20291800-20292000	Flanking Active TSS	Thymus	Thymus
3	chr17:20292000-20292400	Active TSS	Thymus	Thymus
4	chr17:20292400-20292600	Flanking Active TSS	Thymus	Thymus
5	chr17:20304000-20304800	Enhancers	NHEK	skin
6	chr17:20304800-20305600	Weak transcription	NHEK	skin
7	chr17:20305600-20305800	Enhancers	NHEK	skin
8	chr17:20314600-20337600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:20325200-20325600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr17:20325200-20325800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr17:20325200-20326000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr17:20325200-20326000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:20325200-20326000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:20325600-20326000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr17:20326400-20327200	Enhancers	Primary B cells from peripheral blood	blood
16	chr17:20326800-20336400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr17:20327400-20334600	Weak transcription	Brain Angular Gyrus	brain
18	chr17:20327600-20327800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr17:20330600-20336800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:20348000-20348200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:20350200-20350800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr17:20354000-20354200	Active TSS	Hela-S3	cervix
23	chr17:20354000-20355400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr17:20354200-20354400	Flanking Active TSS	Hela-S3	cervix
25	chr17:20354200-20355200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr17:20354400-20355200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:20354800-20355200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:20357200-20369000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:20358200-20368800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:20366000-20366200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr17:20366200-20369200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr17:20368200-20368400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr17:20368400-20369000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:20368800-20369800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:20369000-20369400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr17:20369000-20369600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr17:20369000-20370800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr17:20369200-20370800	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr17:20369400-20369600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr17:20369400-20369800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:20369400-20369800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:20369400-20370800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr17:20369600-20370400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr17:20369600-20370400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr17:20369600-20370600	Enhancers	Esophagus	oesophagus
46	chr17:20369800-20370200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:20369800-20370400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr17:20369800-20380000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr17:20370200-20370400	Enhancers	GM12878-XiMat	blood
50	chr17:20370200-20370800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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