Variant report

Variant	nsv461995
Chromosome Location	chr1:75133142-75166623
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	chr1:75155518-75155998	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:75155524-75155836	K562	blood:	n/a	n/a
3	ATF2	chr1:75146758-75147559	GM12878	blood:	n/a	n/a
4	BATF	chr1:75146993-75147350	GM12878	blood:	n/a	n/a
5	BATF	chr1:75146995-75147453	GM12878	blood:	n/a	n/a
6	BCLAF1	chr1:75146985-75147532	GM12878	blood:	n/a	n/a
7	BHLHE40	chr1:75165240-75165247	GM12878	blood:	n/a	n/a
8	BHLHE40	chr1:75155573-75155773	K562	blood:	n/a	n/a
9	CEBPB	chr1:75155493-75155867	A549	lung:	n/a	chr1:75155493-75155504
10	CEBPB	chr1:75155492-75155866	Hela-S3	cervix:	n/a	chr1:75155493-75155504
11	CEBPB	chr1:75150307-75150646	IMR90	lung:	n/a	chr1:75150478-75150489
12	CEBPB	chr1:75150323-75150618	A549	lung:	n/a	chr1:75150478-75150489
13	CEBPB	chr1:75155489-75155873	IMR90	lung:	n/a	chr1:75155493-75155504
14	CEBPB	chr1:75150311-75150624	K562	blood:	n/a	chr1:75150478-75150489
15	CEBPB	chr1:75155540-75155849	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr1:75155513-75155853	MCF-7	breast:	n/a	n/a
17	CEBPB	chr1:75155489-75155872	HepG2	liver:	n/a	chr1:75155493-75155504
18	CEBPB	chr1:75155493-75155848	K562	blood:	n/a	chr1:75155493-75155504
19	CEBPB	chr1:75135810-75136010	HepG2	liver:	n/a	chr1:75135878-75135887 chr1:75135878-75135887
20	CEBPB	chr1:75150301-75150646	HepG2	liver:	n/a	chr1:75150478-75150489
21	CEBPB	chr1:75150328-75150551	H1-hESC	embryonic stem cell:	n/a	chr1:75150478-75150489
22	CHD1	chr1:75140532-75140584	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr1:75138984-75139132	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr1:75155620-75155770	WI-38	lung:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
25	CTCF	chr1:75155620-75155770	GM12871	blood:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
26	CTCF	chr1:75155600-75155750	HBMEC	blood vessel:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
27	CTCF	chr1:75155552-75155833	K562	blood:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
28	CTCF	chr1:75140500-75140650	GM12867	blood:	n/a	n/a
29	CTCF	chr1:75155488-75155790	ECC-1	luminal epithelium:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
30	CTCF	chr1:75140340-75140630	GM12871	blood:	n/a	n/a
31	CTCF	chr1:75155600-75155750	HVMF	connective:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
32	CTCF	chr1:75139638-75139648	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr1:75155660-75155810	HVMF	connective:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
34	CTCF	chr1:75155640-75155790	HEK293	kidney:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
35	CTCF	chr1:75155552-75155816	Hela-S3	cervix:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
36	CTCF	chr1:75156060-75156210	WI-38	lung:	n/a	n/a
37	CTCF	chr1:75155580-75155730	GM06990	blood:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
38	CTCF	chr1:75155637-75155755	A549	lung:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
39	CTCF	chr1:75155580-75155730	K562	blood:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
40	CTCF	chr1:75155580-75155730	HMEC	breast:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
41	CTCF	chr1:75155620-75155770	K562	blood:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
42	CTCF	chr1:75155580-75155730	BE2_C	brain:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
43	CTCF	chr1:75140460-75140610	GM12874	blood:	n/a	n/a
44	CTCF	chr1:75140500-75140650	GM12878	blood:	n/a	n/a
45	CTCF	chr1:75155620-75155770	HRPEpiC	eye:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
46	CTCF	chr1:75155433-75155899	HepG2	liver:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
47	CTCF	chr1:75155620-75155770	HUVEC	blood vessel:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
48	CTCF	chr1:75155580-75155730	HUVEC	blood vessel:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
49	CTCF	chr1:75155620-75155770	GM12870	blood:	n/a	chr1:75155676-75155694 chr1:75155671-75155692 chr1:75155683-75155691 chr1:75155677-75155693
50	CTCF	chr1:75140500-75140650	GM12872	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:75139347-75139397	U87	brain:	n/a
2	chr1:75139490-75139540	PANC-1	pancreas:	n/a
3	chr1:75139139-75139189	A549	lung:	n/a
4	chr1:75139958-75140008	Caco-2	colon:	n/a
5	chr1:75139958-75140008	HCT-116	colon:	n/a
6	chr1:75139347-75139397	ECC-1	luminal epithelium:	n/a
7	chr1:75139581-75139631	HRPEpiC	eye:	n/a
8	chr1:75139482-75139532	GM12892	blood:	n/a
9	chr1:75138964-75139014	NH-A	brain:	n/a
10	chr1:75139482-75139532	HCF	heart:	n/a
11	chr1:75140187-75140237	HL-60	blood:	n/a
12	chr1:75139746-75139796	AoSMC	blood vessel:	n/a
13	chr1:75140187-75140237	K562	blood:	n/a
14	chr1:75139958-75140008	HRCEpiC	kidney:	n/a
15	chr1:75140289-75140339	GM12878	blood:	n/a
16	chr1:75139347-75139397	AG04450	lung:	fetal
17	chr1:75139490-75139540	PrEC	prostate:	n/a
18	chr1:75139347-75139397	MCF-7	breast:	n/a
19	chr1:75139746-75139796	LNCaP	prostate:	n/a
20	chr1:75139746-75139796	MCF-7	breast:	n/a
21	chr1:75139364-75139414	Jurkat	blood:	n/a
22	chr1:75139364-75139414	H1-hESC	embryonic stem cell:	embryo
23	chr1:75139482-75139532	GM12891	blood:	n/a
24	chr1:75139470-75139520	AG10803	skin:	n/a
25	chr1:75139364-75139414	ovcar-3	ovarian:	n/a
26	chr1:75139139-75139189	CMK	blood:	n/a
27	chr1:75140187-75140237	HRCEpiC	kidney:	n/a
28	chr1:75139958-75140008	Hela-S3	cervix:	n/a
29	chr1:75139364-75139414	BE2_C	brain:	n/a
30	chr1:75139583-75139633	GM12891	blood:	n/a
31	chr1:75139139-75139189	MCF10A-Er-Src	breast:	n/a
32	chr1:75139490-75139540	GM19239	blood:	n/a
33	chr1:75140289-75140339	HL-60	blood:	n/a
34	chr1:75140289-75140339	RPTEC	kidney:	n/a
35	chr1:75139583-75139633	SK-N-SH	brain:	n/a
36	chr1:75139139-75139189	ovcar-3	ovarian:	n/a
37	chr1:75139347-75139397	Caco-2	colon:	n/a
38	chr1:75139347-75139397	GM12892	blood:	n/a
39	chr1:75139746-75139796	ECC-1	luminal epithelium:	n/a
40	chr1:75139139-75139189	HPAEpiC	pulmonary alveolar:	n/a
41	chr1:75138964-75139014	AG09319	gingival:	n/a
42	chr1:75139746-75139796	H1-hESC	embryonic stem cell:	embryo
43	chr1:75139470-75139520	Hepatocyte	liver:	n/a
44	chr1:75139583-75139633	AG09319	gingival:	n/a
45	chr1:75139482-75139532	HEK293	kidney:	embryo
46	chr1:75139490-75139540	RPTEC	kidney:	n/a
47	chr1:75138964-75139014	NHDF-neo	bronchial:	n/a
48	chr1:75139958-75140008	NT2-D1	testis:	n/a
49	chr1:75138964-75139014	AG04450	lung:	fetal
50	chr1:75139364-75139414	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:75146366..75148912-chr1:75156254..75157976,2	K562	blood:
2	chr1:75118268..75118957-chr1:75155576..75156140,2	MCF-7	breast:
3	chr1:75166184..75168158-chr1:75197288..75199350,2	MCF-7	breast:
4	chr1:75154629..75156914-chr1:75162681..75164412,2	K562	blood:
5	chr1:75146366..75148912-chr1:75156254..75157976,2	K562	blood:
6	chr1:75154629..75156914-chr1:75162681..75164412,2	K562	blood:
7	chr1:75165629..75168544-chr1:75168897..75171535,2	K562	blood:
8	chr1:75117987..75118877-chr1:75155539..75156443,2	MCF-7	breast:
9	chr1:75114474..75116619-chr1:75157243..75159501,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRYZ-1	chr1:75164453-75165017	ENSG00000272864.1

Variant related genes	Relation type
C1orf173	TF binding region
ENSG00000272864	TF binding region
C1orf173	CpG island
ENSG00000272864	CpG island
ENSG00000162623	chromatin interactions
ENSG00000116791	chromatin interactions

Extended variants
information (count: 1013 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1013 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12406477	chr1:75138203-75138204	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs80293362	chr1:75138212-75138213	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs572093924	chr1:75138215-75138216	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs10890139	chr1:75138262-75138263	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564412848	chr1:75138286-75138287	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs531794436	chr1:75138321-75138322	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs115452210	chr1:75138327-75138328	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190575535	chr1:75138354-75138355	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs114779475	chr1:75138359-75138360	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs559832153	chr1:75138364-75138365	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs71800828	chr1:75138437-75138438	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs567824081	chr1:75138438-75138439	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs200023621	chr1:75138466-75138467	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs373827147	chr1:75138494-75138495	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs11210495	chr1:75138522-75138523	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551822540	chr1:75138545-75138546	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs547952549	chr1:75138575-75138576	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs566494987	chr1:75138597-75138598	Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs558321071	chr1:75138656-75138657	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs527244744	chr1:75138679-75138680	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs552520666	chr1:75138696-75138697	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs371685158	chr1:75138720-75138721	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570712184	chr1:75138750-75138751	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538048989	chr1:75138757-75138758	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs12043286	chr1:75138762-75138763	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568139900	chr1:75138801-75138802	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs540898525	chr1:75138807-75138808	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs696703	chr1:75138813-75138814	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs530763007	chr1:75138890-75138891	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs183119704	chr1:75138908-75138909	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs188155033	chr1:75138960-75138961	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs147507396	chr1:75138979-75138980	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs192387954	chr1:75138982-75138983	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs182641050	chr1:75138995-75138996	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs529451397	chr1:75139112-75139113	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs371115268	chr1:75139124-75139125	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs374804293	chr1:75139134-75139135	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs201076672	chr1:75139139-75139140	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs527287590	chr1:75139148-75139149	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs552162526	chr1:75139160-75139161	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs201537660	chr1:75139176-75139177	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs200425020	chr1:75139181-75139182	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs371242062	chr1:75139217-75139218	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs374724363	chr1:75139228-75139229	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs368194652	chr1:75139239-75139240	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs202111662	chr1:75139244-75139245	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs531661772	chr1:75139270-75139271	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs549791059	chr1:75139273-75139274	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs568260583	chr1:75139316-75139317	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs535265832	chr1:75139343-75139344	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75138200-75138800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:75138200-75138800	Active TSS	Brain Anterior Caudate	brain
3	chr1:75138200-75139800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:75138400-75138600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:75138400-75138600	Enhancers	Brain Germinal Matrix	brain
6	chr1:75138400-75139800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr1:75138600-75138800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:75138600-75138800	Active TSS	Brain Hippocampus Middle	brain
9	chr1:75138600-75138800	Active TSS	Fetal Brain Male	brain
10	chr1:75138600-75139600	Active TSS	Brain Germinal Matrix	brain
11	chr1:75138600-75139600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:75138600-75139600	Active TSS	Fetal Brain Female	brain
13	chr1:75138600-75139800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:75138600-75139800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:75138600-75139800	Bivalent/Poised TSS	Fetal Thymus	thymus
16	chr1:75138600-75140000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr1:75138600-75140000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:75138600-75140000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:75138600-75140000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:75138800-75139000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:75138800-75139000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:75138800-75139000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
23	chr1:75138800-75139000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:75138800-75139000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:75138800-75139000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:75138800-75139000	Flanking Active TSS	Fetal Brain Male	brain
27	chr1:75138800-75139000	Active TSS	Fetal Muscle Trunk	muscle
28	chr1:75138800-75139000	Enhancers	Rectal Smooth Muscle	rectum
29	chr1:75138800-75139000	Active TSS	Stomach Smooth Muscle	stomach
30	chr1:75138800-75139000	Flanking Active TSS	GM12878-XiMat	blood
31	chr1:75138800-75139000	Bivalent/Poised TSS	NHDF-Ad	bronchial
32	chr1:75138800-75139200	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr1:75138800-75139200	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr1:75138800-75139200	Active TSS	Psoas Muscle	Psoas
35	chr1:75138800-75139400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr1:75138800-75139600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr1:75138800-75139600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr1:75138800-75139600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr1:75138800-75139600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:75138800-75139600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
41	chr1:75138800-75139600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
42	chr1:75138800-75139600	Active TSS	NH-A	brain
43	chr1:75138800-75139800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:75138800-75139800	Active TSS	Brain Substantia Nigra	brain
45	chr1:75138800-75140000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:75138800-75140000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
47	chr1:75138800-75140000	Active TSS	Brain Cingulate Gyrus	brain
48	chr1:75139000-75139200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:75139000-75139200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:75139000-75139200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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