Variant report

Variant	nsv907874
Chromosome Location	chr17:20368237-20550250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:856)
CpG islands
(count:2319)
Chromatin interactive
region (count:1)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:856 , 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	chr17:20370787-20371117	GM12878	blood:	n/a	n/a
3	BATF	chr17:20443708-20444186	GM12878	blood:	n/a	n/a
4	BATF	chr17:20443556-20444223	GM12878	blood:	n/a	n/a
5	BATF	chr17:20370764-20371076	GM12878	blood:	n/a	n/a
6	BATF	chr17:20449270-20449503	GM12878	blood:	n/a	n/a
7	BCL11A	chr17:20443676-20444145	GM12878	blood:	n/a	n/a
8	BCL11A	chr17:20370806-20371041	GM12878	blood:	n/a	n/a
9	BCL11A	chr17:20443777-20444111	GM12878	blood:	n/a	n/a
10	BCL11A	chr17:20372530-20372862	GM12878	blood:	n/a	n/a
11	BCL11A	chr17:20370709-20371057	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:20371063-20371231	GM12878	blood:	n/a	n/a
13	BCL3	chr17:20438566-20438789	GM12878	blood:	n/a	n/a
14	BHLHE40	chr17:20514794-20515059	K562	blood:	n/a	chr17:20514926-20514939 chr17:20514929-20514938 chr17:20514928-20514937
15	CEBPB	chr17:20516625-20516934	HepG2	liver:	n/a	n/a
16	CEBPB	chr17:20474531-20474698	IMR90	lung:	n/a	chr17:20474573-20474584
17	CEBPB	chr17:20388357-20388509	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr17:20474419-20474705	HepG2	liver:	n/a	chr17:20474573-20474584
19	CEBPB	chr17:20432904-20432946	K562	blood:	n/a	n/a
20	CEBPB	chr17:20432902-20433054	IMR90	lung:	n/a	chr17:20432946-20432955 chr17:20432944-20432957 chr17:20432944-20432955
21	CEBPB	chr17:20474412-20474706	A549	lung:	n/a	chr17:20474573-20474584
22	CEBPB	chr17:20468918-20469141	HepG2	liver:	n/a	chr17:20469062-20469073
23	CEBPB	chr17:20432878-20433065	A549	lung:	n/a	chr17:20432946-20432955 chr17:20432944-20432957 chr17:20432944-20432955
24	CEBPB	chr17:20469063-20469069	K562	blood:	n/a	n/a
25	CEBPB	chr17:20474504-20474704	Hela-S3	cervix:	n/a	chr17:20474573-20474584
26	CEBPB	chr17:20469051-20469059	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr17:20428677-20428912	K562	blood:	n/a	n/a
28	CHD1	chr17:20434510-20434553	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr17:20543342-20543458	K562	blood:	n/a	chr17:20543375-20543383
30	CTCF	chr17:20550020-20550170	HEEpiC	esophagus:	n/a	chr17:20550147-20550160
31	CTCF	chr17:20550082-20550190	HepG2	liver:	n/a	chr17:20550147-20550160
32	CTCF	chr17:20399541-20399560	GM10248	blood:	n/a	n/a
33	CTCF	chr17:20550100-20550250	HCPEpiC	choroid plexus:	n/a	chr17:20550147-20550160
34	CTCF	chr17:20550040-20550347	MCF-7	breast:	n/a	chr17:20550147-20550160
35	CTCF	chr17:20445642-20445704	GM10266	blood:	n/a	n/a
36	CTCF	chr17:20550063-20550237	GM13976	blood:	n/a	chr17:20550147-20550160
37	CTCF	chr17:20550000-20550150	AG04450	lung:	n/a	n/a
38	CTCF	chr17:20519907-20519910	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr17:20404997-20405070	GM10266	blood:	n/a	n/a
40	CTCF	chr17:20378584-20378697	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr17:20493062-20493125	GM20000	blood:	n/a	n/a
42	CTCF	chr17:20405344-20405485	GM10266	blood:	n/a	n/a
43	CTCF	chr17:20445599-20445741	ProgFib	skin:	n/a	n/a
44	CTCF	chr17:20411842-20412144	A549	lung:	n/a	n/a
45	CTCF	chr17:20487298-20487527	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr17:20550100-20550250	GM12878	blood:	n/a	chr17:20550147-20550160
47	CTCF	chr17:20487329-20487520	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr17:20405428-20405477	K562	blood:	n/a	n/a
49	CTCF	chr17:20405373-20405396	Medullo	brain:	n/a	n/a
50	CTCF	chr17:20527960-20528110	WERI-Rb-1	eye:	n/a	n/a

(count:2319 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20515873-20515923	Hepatocyte	liver:	n/a
2	chr17:20515873-20515923	Hepatocyte	liver:	n/a
3	chr17:20465437-20465487	Jurkat	blood:	n/a
4	chr17:20515873-20515923	MCF-7	breast:	n/a
5	chr17:20456385-20456435	HAEpiC	amniotic membrane:	n/a
6	chr17:20408647-20408697	Jurkat	blood:	n/a
7	chr17:20408647-20408697	A549	lung:	n/a
8	chr17:20456901-20456951	AG04449	skin:	fetal
9	chr17:20489071-20489121	IMR90	lung:	fetal
10	chr17:20491042-20491092	SKMC	muscle:	n/a
11	chr17:20491042-20491092	AG04449	skin:	fetal
12	chr17:20458672-20458722	HEK293	kidney:	embryo
13	chr17:20467917-20467967	NB4	blood:	n/a
14	chr17:20536948-20536998	SAEC	small airway:	n/a
15	chr17:20480574-20480624	SK-N-SH_RA	brain:	n/a
16	chr17:20464366-20464416	HEK293	kidney:	embryo
17	chr17:20515873-20515923	K562	blood:	n/a
18	chr17:20450484-20450534	BE2_C	brain:	n/a
19	chr17:20516917-20516967	NT2-D1	testis:	n/a
20	chr17:20481830-20481880	HCF	heart:	n/a
21	chr17:20467965-20468015	HAEpiC	amniotic membrane:	n/a
22	chr17:20458986-20459036	NB4	blood:	n/a
23	chr17:20456901-20456951	HepG2	liver:	n/a
24	chr17:20450484-20450534	AoSMC	blood vessel:	n/a
25	chr17:20480574-20480624	U87	brain:	n/a
26	chr17:20480574-20480624	BE2_C	brain:	n/a
27	chr17:20465437-20465487	HRCEpiC	kidney:	n/a
28	chr17:20445757-20445807	AG09309	skin:	n/a
29	chr17:20481830-20481880	Hepatocyte	liver:	n/a
30	chr17:20408772-20408822	K562	blood:	n/a
31	chr17:20458672-20458722	AG04450	lung:	fetal
32	chr17:20467831-20467881	GM12878	blood:	n/a
33	chr17:20467965-20468015	HNPCEpiC	eye:	n/a
34	chr17:20448558-20448608	RPTEC	kidney:	n/a
35	chr17:20515873-20515923	A549	lung:	n/a
36	chr17:20516172-20516222	T-47D	breast:	n/a
37	chr17:20408772-20408822	LNCaP	prostate:	n/a
38	chr17:20516019-20516069	SAEC	small airway:	n/a
39	chr17:20480574-20480624	HCPEpiC	choroid plexus:	n/a
40	chr17:20456385-20456435	SKMC	muscle:	n/a
41	chr17:20516820-20516870	K562	blood:	n/a
42	chr17:20480574-20480624	AG09319	gingival:	n/a
43	chr17:20446526-20446576	GM19239	blood:	n/a
44	chr17:20454132-20454182	HRCEpiC	kidney:	n/a
45	chr17:20408772-20408822	HUVEC	blood vessel:	n/a
46	chr17:20445757-20445807	ovcar-3	ovarian:	n/a
47	chr17:20480574-20480624	HIPEpiC	eye:	n/a
48	chr17:20450484-20450534	SK-N-MC	brain:	n/a
49	chr17:20456901-20456951	BJ	skin:	n/a
50	chr17:20454132-20454182	GM12892	blood:	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:28 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALS9B-2	chr17:20478895-20479172	XLOC_012419
2	lnc-LGALS9B-12	chr17:20446789-20446842	NONHSAT146601
3	lnc-LGALS9B-2	chr17:20478895-20479010	XLOC_012419
4	lnc-LGALS9B-2	chr17:20481940-20482061	ENSG00000264422.1
5	lnc-LGALS9B-2	chr17:20479798-20480107	XLOC_012419
6	lnc-LGALS9B-2	chr17:20481940-20482149	XLOC_012419
7	lnc-LGALS9B-12	chr17:20447359-20447436	NONHSAT146601
8	lnc-LGALS9B-12	chr17:20446287-20446510	NONHSAT146601
9	lnc-LGALS9B-13	chr17:20458740-20458896	NONHSAT146793
10	lnc-LGALS9B-3	chr17:20536347-20536572	NONHSAT146828
11	lnc-LGALS9B-7	chr17:20410726-20412244	ENSG00000266925.1
12	lnc-LGALS9B-2	chr17:20478827-20479172	XLOC_012419
13	lnc-LGALS9B-10	chr17:20435561-20436194	NONHSAT146584
14	lnc-LGALS9B-3	chr17:20534785-20534862	ENSG00000227685.1
15	lnc-LGALS9B-2	chr17:20481940-20482234	XLOC_012419
16	lnc-LGALS9B-4	chr17:20373955-20374185	ucscGeneNc_uc002gxd_1
17	lnc-LGALS9B-2	chr17:20479980-20480210	ENSG00000264422.1
18	lnc-LGALS9B-3	chr17:20536350-20536547	ENSG00000227685.1
19	lnc-LGALS9B-4	chr17:20375554-20376706	ucscGeneNc_uc002gxd_1
20	lnc-LGALS9B-2	chr17:20479798-20480255	XLOC_012419
21	lnc-LGALS9B-13	chr17:20459470-20459532	NONHSAT146793
22	lnc-LGALS9B-2	chr17:20479798-20480107	XLOC_012419
23	lnc-LGALS9B-2	chr17:20481940-20482234	XLOC_012419
24	lnc-LGALS9B-3	chr17:20517801-20517981	ENSG00000227685.1
25	lnc-LGALS9B-2	chr17:20479866-20480107	XLOC_012419
26	lnc-LGALS9B-1	chr17:20433355-20434194	ENSG00000260907.1
27	lnc-LGALS9B-3	chr17:20516225-20516387	ENSG00000227685.1
28	lnc-LGALS9B-13	chr17:20462661-20462723	NONHSAT146793

No data

Variant related genes	Relation type
ENSG00000227685	TF binding region
ENSG00000263946	TF binding region
ENSG00000230339	TF binding region
ENSG00000265916	TF binding region
ENSG00000205215	TF binding region
COTL1P2	TF binding region
ENSG00000264422	TF binding region
ZSWIM5P2	TF binding region
ENSG00000232889	TF binding region
ENSG00000229586	TF binding region
ENSG00000235546	TF binding region
ENSG00000266364	TF binding region
LGALS9B	TF binding region
CDRT15L2	TF binding region
ENSG00000260907	TF binding region
YWHAEP3	TF binding region
ENSG00000266042	TF binding region
KRT16P5	TF binding region
ENSG00000266925	TF binding region
ENSG00000231645	TF binding region
MEIS3P2	TF binding region
ENSG00000236504	TF binding region
ENSG00000226096	TF binding region
TBC1D3P3	TF binding region
KRT16P3	TF binding region
ENSG00000264981	TF binding region
ENSG00000267075	TF binding region
ENSG00000227685	CpG island
ENSG00000263946	CpG island
ENSG00000230339	CpG island
ENSG00000265916	CpG island
ENSG00000205215	CpG island
COTL1P2	CpG island
ENSG00000264422	CpG island
ZSWIM5P2	CpG island
ENSG00000232889	CpG island
ENSG00000229586	CpG island
ENSG00000235546	CpG island
ENSG00000266364	CpG island
LGALS9B	CpG island
CDRT15L2	CpG island
ENSG00000260907	CpG island
YWHAEP3	CpG island
ENSG00000266042	CpG island
KRT16P5	CpG island
ENSG00000266925	CpG island
ENSG00000231645	CpG island
MEIS3P2	CpG island
ENSG00000236504	CpG island
ENSG00000226096	CpG island
TBC1D3P3	CpG island
KRT16P3	CpG island
ENSG00000264981	CpG island
ENSG00000267075	CpG island
ENSG00000214860	chromatin interactions
RNF125	miRNA target sites
GTF3C4	miRNA target sites
VPS4B	miRNA target sites

Extended variants
information (count: 3512 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:3512 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138639349	chr17:20368237-20368238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370781733	chr17:20368363-20368364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571045506	chr17:20368392-20368393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532043434	chr17:20368413-20368414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550116911	chr17:20368445-20368446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568537170	chr17:20368725-20368726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535909329	chr17:20368767-20368768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556510928	chr17:20369071-20369072	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144582910	chr17:20369094-20369095	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200031626	chr17:20369099-20369100	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148477918	chr17:20369105-20369106	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1725687	chr17:20369106-20369107	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57829389	chr17:20369118-20369119	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181108010	chr17:20369128-20369129	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577016190	chr17:20369130-20369131	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141645549	chr17:20369146-20369147	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150509187	chr17:20369168-20369169	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556563153	chr17:20369207-20369208	Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs574867374	chr17:20369253-20369254	Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs112243000	chr17:20369291-20369292	Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs560563339	chr17:20369292-20369293	Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs1725686	chr17:20369414-20369415	Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs71247641	chr17:20369429-20369430	Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs564708464	chr17:20369449-20369450	Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs150065069	chr17:20369453-20369454	Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs550080136	chr17:20369455-20369456	Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs568448773	chr17:20369456-20369457	Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs529621230	chr17:20369462-20369463	Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs368009741	chr17:20369471-20369472	Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs547828963	chr17:20369476-20369477	Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs1725685	chr17:20369490-20369491	Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs533887778	chr17:20369523-20369524	Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs558438622	chr17:20369576-20369577	Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs570640856	chr17:20369606-20369607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs61084326	chr17:20369609-20369610	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs556473119	chr17:20369697-20369698	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs143261092	chr17:20369698-20369699	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs574830311	chr17:20369729-20369730	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs535838165	chr17:20369753-20369754	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs1825464	chr17:20369777-20369778	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs554143898	chr17:20369823-20369824	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs572403499	chr17:20369875-20369876	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs371365686	chr17:20369877-20369878	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs546303696	chr17:20369891-20369892	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564490587	chr17:20370024-20370025	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs576213939	chr17:20370048-20370049	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs543637927	chr17:20370065-20370066	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs562041438	chr17:20370084-20370085	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs529585437	chr17:20370109-20370110	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs185351094	chr17:20370162-20370163	Enhancers Weak transcription Active TSS	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
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20357200-20369000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr17:20358200-20368800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr17:20366200-20369200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr17:20368200-20368400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:20368400-20369000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:20368800-20369800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:20369000-20369400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:20369000-20369600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:20369000-20370800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr17:20369200-20370800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr17:20369400-20369600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr17:20369400-20369800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:20369400-20369800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:20369400-20370800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr17:20369600-20370400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr17:20369600-20370400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:20369600-20370600	Enhancers	Esophagus	oesophagus
18	chr17:20369800-20370200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:20369800-20370400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:20369800-20380000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:20370200-20370400	Enhancers	GM12878-XiMat	blood
22	chr17:20370200-20370800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:20370400-20370600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr17:20370400-20370600	Enhancers	Colonic Mucosa	Colon
25	chr17:20370400-20370800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:20370400-20370800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:20370400-20370800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:20370400-20370800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr17:20370400-20370800	Enhancers	Primary B cells from cord blood	blood
30	chr17:20370400-20370800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr17:20370400-20370800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr17:20370400-20370800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr17:20370400-20370800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:20370400-20370800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:20370400-20370800	Active TSS	Duodenum Mucosa	Duodenum
36	chr17:20370400-20370800	Active TSS	Rectal Smooth Muscle	rectum
37	chr17:20370400-20370800	Flanking Active TSS	GM12878-XiMat	blood
38	chr17:20370400-20370800	Enhancers	Hela-S3	cervix
39	chr17:20370400-20370800	Enhancers	HMEC	breast
40	chr17:20370400-20370800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr17:20370400-20370800	Enhancers	NHEK	skin
42	chr17:20370400-20370800	Enhancers	Osteobl	bone
43	chr17:20370400-20371200	Enhancers	Primary B cells from peripheral blood	blood
44	chr17:20370600-20371600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr17:20370800-20371600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr17:20370800-20371600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:20370800-20372800	Weak transcription	Hela-S3	cervix
48	chr17:20370800-20373800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:20370800-20394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:20371600-20371800	Enhancers	Primary T cells fromperipheralblood	blood

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