Variant report

Variant	nsv510703
Chromosome Location	chr17:20441553-20568237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:599)
CpG islands
(count:1958)
Chromatin interactive
region (count:1)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:599 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr17:20552417-20552929	GM12878	blood:	n/a	n/a
2	ATF2	chr17:20552401-20552830	GM12878	blood:	n/a	n/a
3	BATF	chr17:20552419-20552811	GM12878	blood:	n/a	n/a
4	BATF	chr17:20449270-20449503	GM12878	blood:	n/a	n/a
5	BATF	chr17:20554357-20554645	GM12878	blood:	n/a	n/a
6	BATF	chr17:20443708-20444186	GM12878	blood:	n/a	n/a
7	BATF	chr17:20552423-20552925	GM12878	blood:	n/a	n/a
8	BATF	chr17:20443556-20444223	GM12878	blood:	n/a	n/a
9	BCL11A	chr17:20559489-20559685	GM12878	blood:	n/a	n/a
10	BCL11A	chr17:20552438-20552751	GM12878	blood:	n/a	n/a
11	BCL11A	chr17:20554373-20554609	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:20552374-20552875	GM12878	blood:	n/a	n/a
13	BCL11A	chr17:20443676-20444145	GM12878	blood:	n/a	n/a
14	BCL11A	chr17:20554375-20554592	GM12878	blood:	n/a	n/a
15	BCL11A	chr17:20443777-20444111	GM12878	blood:	n/a	n/a
16	BHLHE40	chr17:20514794-20515059	K562	blood:	n/a	chr17:20514926-20514939 chr17:20514929-20514938 chr17:20514928-20514937
17	BHLHE40	chr17:20552469-20552691	GM12878	blood:	n/a	n/a
18	CEBPB	chr17:20557457-20557822	Hela-S3	cervix:	n/a	chr17:20557790-20557807
19	CEBPB	chr17:20474412-20474706	A549	lung:	n/a	chr17:20474573-20474584
20	CEBPB	chr17:20474419-20474705	HepG2	liver:	n/a	chr17:20474573-20474584
21	CEBPB	chr17:20469063-20469069	K562	blood:	n/a	n/a
22	CEBPB	chr17:20516625-20516934	HepG2	liver:	n/a	n/a
23	CEBPB	chr17:20557555-20557814	IMR90	lung:	n/a	chr17:20557790-20557807
24	CEBPB	chr17:20474531-20474698	IMR90	lung:	n/a	chr17:20474573-20474584
25	CEBPB	chr17:20468918-20469141	HepG2	liver:	n/a	chr17:20469062-20469073
26	CEBPB	chr17:20474504-20474704	Hela-S3	cervix:	n/a	chr17:20474573-20474584
27	CEBPB	chr17:20469051-20469059	Hela-S3	cervix:	n/a	n/a
28	CHD1	chr17:20552549-20552628	GM12878	blood:	n/a	n/a
29	CTCF	chr17:20550031-20550367	A549	lung:	n/a	chr17:20550147-20550160
30	CTCF	chr17:20550042-20550412	GM10266	blood:	n/a	chr17:20550147-20550160
31	CTCF	chr17:20487394-20487465	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr17:20550058-20550252	GM13977	blood:	n/a	chr17:20550147-20550160
33	CTCF	chr17:20550100-20550250	GM12878	blood:	n/a	chr17:20550147-20550160
34	CTCF	chr17:20550040-20550190	HCM	heart:	n/a	chr17:20550147-20550160
35	CTCF	chr17:20550063-20550237	GM13976	blood:	n/a	chr17:20550147-20550160
36	CTCF	chr17:20550100-20550250	GM12872	blood:	n/a	chr17:20550147-20550160
37	CTCF	chr17:20550040-20550190	GM12867	blood:	n/a	chr17:20550147-20550160
38	CTCF	chr17:20550034-20550338	MCF-7	breast:	n/a	chr17:20550147-20550160
39	CTCF	chr17:20549817-20550480	A549	lung:	n/a	chr17:20550147-20550160
40	CTCF	chr17:20550100-20550250	HBMEC	blood vessel:	n/a	chr17:20550147-20550160
41	CTCF	chr17:20550040-20550190	HFF-Myc	foreskin:	n/a	chr17:20550147-20550160
42	CTCF	chr17:20550020-20550310	HFF-Myc	foreskin:	n/a	chr17:20550147-20550160
43	CTCF	chr17:20550031-20550353	MCF-7	breast:	n/a	chr17:20550147-20550160
44	CTCF	chr17:20487314-20487552	GM12892	blood:	n/a	n/a
45	CTCF	chr17:20487353-20487496	GM19240	blood:	n/a	n/a
46	CTCF	chr17:20550027-20550304	GM19239	blood:	n/a	chr17:20550147-20550160
47	CTCF	chr17:20487371-20487483	Medullo	brain:	n/a	n/a
48	CTCF	chr17:20550085-20550233	GM20000	blood:	n/a	chr17:20550147-20550160
49	CTCF	chr17:20492974-20493087	MCF-7	breast:	n/a	n/a
50	CTCF	chr17:20550000-20550150	AG09319	gingival:	n/a	n/a

(count:1958 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20516172-20516222	U87	brain:	n/a
2	chr17:20464366-20464416	AG09309	skin:	n/a
3	chr17:20467831-20467881	CMK	blood:	n/a
4	chr17:20445757-20445807	AG04449	skin:	fetal
5	chr17:20458986-20459036	NHDF-neo	bronchial:	n/a
6	chr17:20454132-20454182	HCPEpiC	choroid plexus:	n/a
7	chr17:20516172-20516222	U87	brain:	n/a
8	chr17:20464366-20464416	AG09309	skin:	n/a
9	chr17:20467831-20467881	CMK	blood:	n/a
10	chr17:20445757-20445807	AG04449	skin:	fetal
11	chr17:20458986-20459036	NHDF-neo	bronchial:	n/a
12	chr17:20454132-20454182	HCPEpiC	choroid plexus:	n/a
13	chr17:20491042-20491092	AG10803	skin:	n/a
14	chr17:20460588-20460638	LNCaP	prostate:	n/a
15	chr17:20465437-20465487	T-47D	breast:	n/a
16	chr17:20516172-20516222	NB4	blood:	n/a
17	chr17:20454132-20454182	Jurkat	blood:	n/a
18	chr17:20445757-20445807	RPTEC	kidney:	n/a
19	chr17:20458672-20458722	Jurkat	blood:	n/a
20	chr17:20460627-20460677	HRCEpiC	kidney:	n/a
21	chr17:20446526-20446576	AG04449	skin:	fetal
22	chr17:20458986-20459036	GM12892	blood:	n/a
23	chr17:20489071-20489121	SK-N-SH_RA	brain:	n/a
24	chr17:20445757-20445807	HMEC	breast:	n/a
25	chr17:20481830-20481880	HUVEC	blood vessel:	n/a
26	chr17:20446526-20446576	HEEpiC	esophagus:	n/a
27	chr17:20480574-20480624	Jurkat	blood:	n/a
28	chr17:20492631-20492681	NH-A	brain:	n/a
29	chr17:20536948-20536998	HL-60	blood:	n/a
30	chr17:20516019-20516069	K562	blood:	n/a
31	chr17:20516820-20516870	AG09309	skin:	n/a
32	chr17:20467965-20468015	NHBE	bronchial:	n/a
33	chr17:20445757-20445807	NB4	blood:	n/a
34	chr17:20517129-20517179	CMK	blood:	n/a
35	chr17:20448558-20448608	ECC-1	luminal epithelium:	n/a
36	chr17:20458986-20459036	GM12878	blood:	n/a
37	chr17:20536948-20536998	NB4	blood:	n/a
38	chr17:20489071-20489121	HCT-116	colon:	n/a
39	chr17:20517129-20517179	K562	blood:	n/a
40	chr17:20464366-20464416	GM06990	blood:	n/a
41	chr17:20465437-20465487	HEK293	kidney:	embryo
42	chr17:20454132-20454182	NB4	blood:	n/a
43	chr17:20458672-20458722	SK-N-SH_RA	brain:	n/a
44	chr17:20515873-20515923	ProgFib	skin:	n/a
45	chr17:20516820-20516870	BE2_C	brain:	n/a
46	chr17:20445757-20445807	HepG2	liver:	n/a
47	chr17:20480574-20480624	AG09309	skin:	n/a
48	chr17:20467917-20467967	K562	blood:	n/a
49	chr17:20536885-20536935	GM12891	blood:	n/a
50	chr17:20458986-20459036	AG04450	lung:	fetal

(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:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALS9B-12	chr17:20446287-20446510	NONHSAT146601
2	lnc-LGALS9B-2	chr17:20479980-20480210	ENSG00000264422.1
3	lnc-LGALS9B-2	chr17:20478827-20479172	XLOC_012419
4	lnc-LGALS9B-2	chr17:20481940-20482234	XLOC_012419
5	lnc-LGALS9B-2	chr17:20481940-20482061	ENSG00000264422.1
6	lnc-LGALS9B-3	chr17:20517801-20517981	ENSG00000227685.1
7	lnc-LGALS9B-2	chr17:20479866-20480107	XLOC_012419
8	lnc-LGALS9B-13	chr17:20458740-20458896	NONHSAT146793
9	lnc-LGALS9B-12	chr17:20447359-20447436	NONHSAT146601
10	lnc-LGALS9B-2	chr17:20479798-20480107	XLOC_012419
11	lnc-LGALS9B-2	chr17:20478895-20479172	XLOC_012419
12	lnc-LGALS9B-2	chr17:20481940-20482234	XLOC_012419
13	lnc-LGALS9B-2	chr17:20479798-20480107	XLOC_012419
14	lnc-LGALS9B-2	chr17:20478895-20479010	XLOC_012419
15	lnc-LGALS9B-3	chr17:20536350-20536547	ENSG00000227685.1
16	lnc-LGALS9B-12	chr17:20446789-20446842	NONHSAT146601
17	lnc-LGALS9B-13	chr17:20459470-20459532	NONHSAT146793
18	lnc-LGALS9B-2	chr17:20481940-20482149	XLOC_012419
19	lnc-LGALS9B-3	chr17:20536347-20536572	NONHSAT146828
20	lnc-LGALS9B-2	chr17:20479798-20480255	XLOC_012419
21	lnc-LGALS9B-13	chr17:20462661-20462723	NONHSAT146793
22	lnc-LGALS9B-3	chr17:20516225-20516387	ENSG00000227685.1
23	lnc-LGALS9B-3	chr17:20534785-20534862	ENSG00000227685.1

No data

Variant related genes	Relation type
ENSG00000227685	TF binding region
ENSG00000263946	TF binding region
ENSG00000230339	TF binding region
COTL1P2	TF binding region
ENSG00000264422	TF binding region
ZSWIM5P2	TF binding region
ENSG00000232889	TF binding region
ENSG00000235546	TF binding region
ENSG00000266364	TF binding region
CDRT15L2	TF binding region
MEIS3P2	TF binding region
ENSG00000236504	TF binding region
ENSG00000226096	TF binding region
TBC1D3P3	TF binding region
ENSG00000264981	TF binding region
ENSG00000267075	TF binding region
ENSG00000227685	CpG island
ENSG00000263946	CpG island
ENSG00000230339	CpG island
COTL1P2	CpG island
ENSG00000264422	CpG island
ZSWIM5P2	CpG island
ENSG00000232889	CpG island
ENSG00000235546	CpG island
ENSG00000266364	CpG island
CDRT15L2	CpG island
MEIS3P2	CpG island
ENSG00000236504	CpG island
ENSG00000226096	CpG island
TBC1D3P3	CpG island
ENSG00000264981	CpG island
ENSG00000267075	CpG island
ENSG00000214860	chromatin interactions
RNF125	miRNA target sites
VPS4B	miRNA target sites
GTF3C4	miRNA target sites

Extended variants
information (count: 2305 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:2305 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184294257	chr17:20441576-20441577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548068137	chr17:20441582-20441583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111247647	chr17:20441623-20441624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375806924	chr17:20441647-20441648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377711298	chr17:20441649-20441650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558825787	chr17:20441660-20441661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371648479	chr17:20441661-20441662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537873025	chr17:20441694-20441695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556168995	chr17:20441696-20441697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574576631	chr17:20441902-20441903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542351144	chr17:20442025-20442026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201997899	chr17:20442027-20442028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572604693	chr17:20442059-20442060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546144494	chr17:20442098-20442099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201525707	chr17:20442271-20442272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564791225	chr17:20442274-20442275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534412236	chr17:20442275-20442276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373673967	chr17:20442378-20442379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376667099	chr17:20442438-20442439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367580788	chr17:20442446-20442447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200307142	chr17:20442459-20442460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371403478	chr17:20442493-20442494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373928508	chr17:20442536-20442537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377199095	chr17:20442569-20442570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548269006	chr17:20442658-20442659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566505857	chr17:20442675-20442676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370375731	chr17:20442733-20442734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2948622	chr17:20442739-20442740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2948621	chr17:20442741-20442742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534008776	chr17:20442762-20442763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147653106	chr17:20442801-20442802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2955829	chr17:20442867-20442868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79702832	chr17:20442883-20442884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80092721	chr17:20442887-20442888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113341590	chr17:20442891-20442892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111782729	chr17:20442895-20442896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77253872	chr17:20442899-20442900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552161204	chr17:20442937-20442938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71258590	chr17:20442964-20442965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570393974	chr17:20442969-20442970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537785988	chr17:20443039-20443040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556129865	chr17:20443049-20443050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574539797	chr17:20443050-20443051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560011470	chr17:20443064-20443065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535533196	chr17:20443065-20443066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557652840	chr17:20443108-20443109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372736910	chr17:20443115-20443116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62068050	chr17:20443117-20443118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199690330	chr17:20443124-20443125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76166261	chr17:20443132-20443133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:153)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20437000-20445200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr17:20437200-20445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr17:20438000-20444200	Weak transcription	Fetal Thymus	thymus
4	chr17:20439000-20444200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:20443200-20445800	Enhancers	Primary B cells from peripheral blood	blood
6	chr17:20444200-20444400	Enhancers	Primary hematopoietic stem cells	blood
7	chr17:20444200-20444400	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr17:20444200-20445400	Enhancers	Fetal Thymus	thymus
9	chr17:20444200-20445600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:20444200-20445800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr17:20444200-20445800	Enhancers	GM12878-XiMat	blood
12	chr17:20444400-20445200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr17:20444400-20445200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr17:20445200-20445600	Enhancers	Primary hematopoietic stem cells	blood
15	chr17:20445200-20445600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:20445200-20445600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:20445200-20445600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr17:20445200-20445600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:20445200-20445600	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr17:20445200-20445800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:20445400-20445800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr17:20445400-20445800	Enhancers	NHDF-Ad	bronchial
23	chr17:20457400-20457600	Enhancers	Fetal Muscle Trunk	muscle
24	chr17:20458600-20459000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr17:20458600-20459200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:20458600-20459400	Enhancers	Primary B cells from peripheral blood	blood
27	chr17:20458600-20459400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr17:20458600-20459600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr17:20459000-20459200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr17:20459000-20459400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:20459000-20459400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:20467200-20472400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:20467800-20468000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:20468000-20472000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:20470600-20471200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr17:20470600-20471400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:20470800-20471400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:20471400-20471800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:20471800-20472200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr17:20472000-20472200	Enhancers	Fetal Muscle Leg	muscle
41	chr17:20472000-20472400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:20472400-20472800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr17:20472800-20492200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr17:20484600-20484800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:20484800-20492200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:20491400-20491800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr17:20491600-20492000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr17:20491800-20492000	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr17:20491800-20492000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:20491800-20492600	Active TSS	iPS-18 Cell Line	embryonic stem cell

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