Variant report

Variant	esv3693169
Chromosome Location	chr14:65344400-65381068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1151)
CpG islands
(count:1221)
Chromatin interactive
region (count:73)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1151 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:65377626-65377826	K562	blood:	n/a	n/a
2	ARID3A	chr14:65358561-65358873	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:65377651-65377906	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:65346612-65346812	K562	blood:	n/a	n/a
5	ARID3A	chr14:65358532-65358848	K562	blood:	n/a	n/a
6	ATF1	chr14:65379131-65379330	K562	blood:	n/a	n/a
7	ATF1	chr14:65358514-65358786	K562	blood:	n/a	n/a
8	ATF1	chr14:65366760-65366960	K562	blood:	n/a	n/a
9	ATF2	chr14:65380876-65381496	H1-hESC	embryonic stem cell:	n/a	chr14:65381441-65381455
10	ATF2	chr14:65380871-65381794	GM12878	blood:	n/a	chr14:65381441-65381455
11	ATF3	chr14:65380741-65381323	A549	lung:	n/a	n/a
12	BACH1	chr14:65380756-65381594	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr14:65346136-65346313	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL3	chr14:65380945-65381421	A549	lung:	n/a	n/a
15	BCLAF1	chr14:65380743-65381792	GM12878	blood:	n/a	chr14:65381547-65381556
16	BHLHE40	chr14:65346586-65346932	K562	blood:	n/a	chr14:65346870-65346886 chr14:65346601-65346617 chr14:65346610-65346626
17	BHLHE40	chr14:65380879-65381213	K562	blood:	n/a	n/a
18	BHLHE40	chr14:65347197-65347386	K562	blood:	n/a	n/a
19	BRCA1	chr14:65380919-65381369	H1-hESC	embryonic stem cell:	n/a	chr14:65381154-65381163
20	BRCA1	chr14:65358566-65358821	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr14:65380842-65381897	Hela-S3	cervix:	n/a	chr14:65381154-65381163
22	BRCA1	chr14:65380952-65381636	GM12878	blood:	n/a	chr14:65381154-65381163
23	BRCA1	chr14:65380958-65381375	HepG2	liver:	n/a	chr14:65381154-65381163
24	CBX3	chr14:65360978-65361212	K562	blood:	n/a	n/a
25	CBX3	chr14:65346602-65346868	K562	blood:	n/a	n/a
26	CCNT2	chr14:65381043-65381465	K562	blood:	n/a	n/a
27	CCNT2	chr14:65345877-65347531	K562	blood:	n/a	chr14:65347261-65347270
28	CEBPB	chr14:65358591-65358854	K562	blood:	n/a	n/a
29	CEBPB	chr14:65380823-65381325	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr14:65357433-65357786	K562	blood:	n/a	n/a
31	CEBPB	chr14:65374623-65374717	K562	blood:	n/a	n/a
32	CEBPB	chr14:65371966-65372308	HepG2	liver:	n/a	n/a
33	CEBPB	chr14:65371943-65372179	IMR90	lung:	n/a	n/a
34	CEBPB	chr14:65380998-65381298	HepG2	liver:	n/a	n/a
35	CEBPB	chr14:65380815-65381788	GM12878	blood:	n/a	n/a
36	CEBPB	chr14:65374473-65374786	A549	lung:	n/a	n/a
37	CEBPB	chr14:65380995-65381265	K562	blood:	n/a	n/a
38	CEBPB	chr14:65371920-65372417	Hela-S3	cervix:	n/a	n/a
39	CEBPD	chr14:65346482-65346940	K562	blood:	n/a	n/a
40	CEBPD	chr14:65346469-65346978	K562	blood:	n/a	n/a
41	CHD1	chr14:65380850-65381877	GM12878	blood:	n/a	chr14:65381154-65381163
42	CHD1	chr14:65347096-65347506	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr14:65346675-65346800	K562	blood:	n/a	n/a
44	CHD2	chr14:65380828-65381704	HepG2	liver:	n/a	chr14:65381154-65381163
45	CHD2	chr14:65346110-65346160	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr14:65347177-65347355	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr14:65380799-65381745	Hela-S3	cervix:	n/a	chr14:65381154-65381163
48	CHD2	chr14:65380797-65381782	GM12878	blood:	n/a	chr14:65381154-65381163
49	CHD2	chr14:65344746-65344775	K562	blood:	n/a	n/a
50	CHD2	chr14:65380832-65381729	K562	blood:	n/a	chr14:65381154-65381163

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65346148-65346198	Caco-2	colon:	n/a
2	chr14:65346148-65346198	Caco-2	colon:	n/a
3	chr14:65346686-65346736	HCF	heart:	n/a
4	chr14:65346686-65346736	SK-N-MC	brain:	n/a
5	chr14:65346628-65346678	K562	blood:	n/a
6	chr14:65346875-65346925	AoSMC	blood vessel:	n/a
7	chr14:65347518-65347568	HMEC	breast:	n/a
8	chr14:65346628-65346678	NHDF-neo	bronchial:	n/a
9	chr14:65346628-65346678	AG10803	skin:	n/a
10	chr14:65346490-65346540	SK-N-SH_RA	brain:	n/a
11	chr14:65346633-65346683	ovcar-3	ovarian:	n/a
12	chr14:65346628-65346678	RPTEC	kidney:	n/a
13	chr14:65345381-65345431	HL-60	blood:	n/a
14	chr14:65346148-65346198	SK-N-MC	brain:	n/a
15	chr14:65347518-65347568	HAEpiC	amniotic membrane:	n/a
16	chr14:65346686-65346736	AG04449	skin:	fetal
17	chr14:65381025-65381075	HPAEpiC	pulmonary alveolar:	n/a
18	chr14:65347345-65347395	IMR90	lung:	fetal
19	chr14:65377797-65377847	ovcar-3	ovarian:	n/a
20	chr14:65345381-65345431	SKMC	muscle:	n/a
21	chr14:65346686-65346736	NB4	blood:	n/a
22	chr14:65346148-65346198	BE2_C	brain:	n/a
23	chr14:65346721-65346771	AG09319	gingival:	n/a
24	chr14:65346686-65346736	PANC-1	pancreas:	n/a
25	chr14:65347518-65347568	HEEpiC	esophagus:	n/a
26	chr14:65380736-65380786	GM19239	blood:	n/a
27	chr14:65380577-65380627	HCT-116	colon:	n/a
28	chr14:65346148-65346198	IMR90	lung:	fetal
29	chr14:65381025-65381075	IMR90	lung:	fetal
30	chr14:65346686-65346736	HAEpiC	amniotic membrane:	n/a
31	chr14:65381025-65381075	HCF	heart:	n/a
32	chr14:65380736-65380786	K562	blood:	n/a
33	chr14:65347275-65347325	ovcar-3	ovarian:	n/a
34	chr14:65380954-65381004	LNCaP	prostate:	n/a
35	chr14:65377797-65377847	AG09319	gingival:	n/a
36	chr14:65346721-65346771	HMEC	breast:	n/a
37	chr14:65381029-65381079	SKMC	muscle:	n/a
38	chr14:65346628-65346678	NH-A	brain:	n/a
39	chr14:65347345-65347395	Hepatocyte	liver:	n/a
40	chr14:65345381-65345431	T-47D	breast:	n/a
41	chr14:65346686-65346736	SKMC	muscle:	n/a
42	chr14:65380954-65381004	GM12878	blood:	n/a
43	chr14:65345381-65345431	HAEpiC	amniotic membrane:	n/a
44	chr14:65346633-65346683	HNPCEpiC	eye:	n/a
45	chr14:65346875-65346925	GM12878	blood:	n/a
46	chr14:65380577-65380627	PFSK-1	brain:	n/a
47	chr14:65347138-65347188	HepG2	liver:	n/a
48	chr14:65381029-65381079	AG04449	skin:	fetal
49	chr14:65380736-65380786	GM12891	blood:	n/a
50	chr14:65380954-65381004	RPTEC	kidney:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:65353028..65355615-chr14:65356230..65358479,2	K562	blood:
2	chr14:65348790..65350431-chr14:65354334..65355956,2	K562	blood:
3	chr14:65192502..65194918-chr14:65380878..65383744,2	MCF-7	breast:
4	chr14:64971440..64973382-chr14:65345698..65348415,2	MCF-7	breast:
5	chr14:65347011..65349276-chr14:65350145..65352997,3	MCF-7	breast:
6	chr1:245027405..245028087-chr14:65380799..65381715,2	Hela-S3	cervix:
7	chr14:65352038..65354745-chr14:65354823..65356401,2	MCF-7	breast:
8	chr14:65268216..65269184-chr14:65358330..65359038,4	K562	blood:
9	chr14:65311733..65313591-chr14:65343114..65345431,2	K562	blood:
10	chr14:65267486..65269217-chr14:65357718..65359262,14	MCF-7	breast:
11	chr14:65360076..65361766-chr14:65362287..65363875,2	MCF-7	breast:
12	chr14:65380579..65384480-chr14:65390113..65394782,6	MCF-7	breast:
13	chr1:224370494..224371298-chr14:65380984..65381699,2	NB4	blood:
14	chr14:65371374..65373964-chr14:65403837..65405514,2	MCF-7	breast:
15	chr14:65376372..65378588-chr14:65381042..65383849,2	K562	blood:
16	chr14:65313975..65316632-chr14:65343546..65346097,2	MCF-7	breast:
17	chr14:65346776..65348701-chr14:65353935..65356642,2	K562	blood:
18	chr14:65360076..65361766-chr14:65362287..65363875,2	MCF-7	breast:
19	chr14:65373180..65376214-chr14:65389660..65391976,3	K562	blood:
20	chr14:65380878..65381662-chr4:151936098..151937031,2	HCT-116	colon:
21	chr14:65379731..65383710-chr14:65424558..65427647,5	MCF-7	breast:
22	chr14:65380997..65384717-chr14:65414191..65417570,3	MCF-7	breast:
23	chr14:65347011..65349276-chr14:65350145..65352997,3	MCF-7	breast:
24	chr14:65326776..65328848-chr14:65344777..65346303,2	K562	blood:
25	chr14:65346776..65348701-chr14:65353935..65356642,2	K562	blood:
26	chr14:65306477..65308569-chr14:65377752..65379840,2	MCF-7	breast:
27	chr14:65289524..65290526-chr14:65358021..65359324,8	K562	blood:
28	chr14:65264347..65266634-chr14:65358841..65360422,2	MCF-7	breast:
29	chr14:65346776..65351606-chr14:65355142..65358604,5	K562	blood:
30	chr14:65347870..65349476-chr14:65380923..65383635,2	MCF-7	breast:
31	chr14:65344538..65346383-chr14:65347730..65349628,3	K562	blood:
32	chr14:65380332..65384001-chr14:65388831..65392561,3	K562	blood:
33	chr14:65380105..65382840-chr14:65437077..65439744,4	MCF-7	breast:
34	chr14:65346800..65348898-chr14:65351625..65354536,2	K562	blood:
35	chr14:65345386..65349759-chr14:65351524..65353392,4	K562	blood:
36	chr14:65381042..65382655-chr14:65437640..65439751,2	MCF-7	breast:
37	chr14:65380374..65382697-chr14:65453453..65455560,2	MCF-7	breast:
38	chr14:65356440..65358700-chr14:65379769..65381546,2	MCF-7	breast:
39	chr14:65358336..65361161-chr14:65365213..65366947,2	K562	blood:
40	chr14:65377652..65378279-chr14:65486390..65487336,2	K562	blood:
41	chr1:160231806..160232339-chr14:65380843..65381378,2	NB4	blood:
42	chr14:65352038..65354745-chr14:65354823..65356401,2	MCF-7	breast:
43	chr14:65370140..65372301-chr14:65378227..65382281,3	K562	blood:
44	chr14:65289311..65290700-chr14:65357720..65359432,13	MCF-7	breast:
45	chr14:65376372..65378588-chr14:65381042..65383849,2	K562	blood:
46	chr14:65358336..65361161-chr14:65365213..65366947,2	K562	blood:
47	chr14:65346776..65351606-chr14:65355142..65358604,5	K562	blood:
48	chr14:65264248..65268196-chr14:65377647..65381035,3	MCF-7	breast:
49	chr14:65238323..65239708-chr14:65358202..65359292,7	MCF-7	breast:
50	chr14:65368343..65372150-chr14:65374320..65377224,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPX2-3	chr14:65376206-65376498	NONHSAT037356

No data

Variant related genes	Relation type
CHURC1-FNTB	TF binding region
RPPH1-2P	TF binding region
SPTB	TF binding region
CHURC1	TF binding region
FNTB	TF binding region
CHURC1-FNTB	CpG island
RPPH1-2P	CpG island
SPTB	CpG island
CHURC1	CpG island
FNTB	CpG island
ENSG00000125954	chromatin interactions
ENSG00000153187	chromatin interactions
ENSG00000132716	chromatin interactions
ENSG00000252497	chromatin interactions
ENSG00000176153	chromatin interactions
ENSG00000070182	chromatin interactions
ENSG00000089775	chromatin interactions
ENSG00000139998	chromatin interactions
ENSG00000198589	chromatin interactions
ENSG00000258289	chromatin interactions
ENSG00000100714	chromatin interactions
ENSG00000166886	chromatin interactions
ENSG00000126804	chromatin interactions
ENSG00000143753	chromatin interactions
ENSG00000257365	chromatin interactions
ENSG00000273175	chromatin interactions
ENSG00000126822	chromatin interactions

Extended variants
information (count: 1319 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1319 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4899150	chr14:65344400-65344401	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543419881	chr14:65344455-65344456	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs544594755	chr14:65344531-65344532	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs139514415	chr14:65344566-65344567	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs189225825	chr14:65344575-65344576	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs144231328	chr14:65344599-65344600	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs72625648	chr14:65344602-65344603	Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113183522	chr14:65344606-65344607	Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs146547731	chr14:65344646-65344647	Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs542024493	chr14:65344710-65344711	Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561832694	chr14:65344717-65344718	Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530576660	chr14:65344739-65344740	Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550644584	chr14:65344763-65344764	Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570455040	chr14:65344799-65344800	Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181267643	chr14:65344801-65344802	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4902327	chr14:65344803-65344804	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs550975904	chr14:65344842-65344843	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566623554	chr14:65344844-65344845	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535652274	chr14:65344888-65344889	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs72726259	chr14:65344895-65344896	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568543478	chr14:65344911-65344912	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149104068	chr14:65344943-65344944	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556976675	chr14:65344947-65344948	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547637686	chr14:65344958-65344959	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs142228663	chr14:65344960-65344961	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545764476	chr14:65344983-65344984	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs116593725	chr14:65344994-65344995	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573418754	chr14:65345049-65345050	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542414587	chr14:65345055-65345056	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186307263	chr14:65345087-65345088	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530666405	chr14:65345114-65345115	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201073358	chr14:65345116-65345117	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544311207	chr14:65345120-65345121	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191220672	chr14:65345121-65345122	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532976634	chr14:65345180-65345181	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs151191302	chr14:65345202-65345203	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs180725180	chr14:65345214-65345215	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529128541	chr14:65345217-65345218	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs186031879	chr14:65345234-65345235	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190797581	chr14:65345309-65345310	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183398927	chr14:65345347-65345348	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567791556	chr14:65345349-65345350	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs187343925	chr14:65345350-65345351	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs140325155	chr14:65345467-65345468	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs58349700	chr14:65345498-65345499	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553047865	chr14:65345515-65345516	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573530312	chr14:65345587-65345588	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146955723	chr14:65345634-65345635	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568773660	chr14:65345649-65345650	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575882559	chr14:65345652-65345653	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:738 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65335600-65344600	Weak transcription	Right Ventricle	heart
2	chr14:65342200-65344400	Weak transcription	Psoas Muscle	Psoas
3	chr14:65343000-65344600	Weak transcription	Left Ventricle	heart
4	chr14:65343600-65344400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr14:65344000-65345600	Enhancers	Fetal Heart	heart
6	chr14:65344200-65345000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr14:65344200-65345000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr14:65344200-65346000	Flanking Active TSS	K562	blood
9	chr14:65344400-65344600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr14:65344400-65344800	Enhancers	Psoas Muscle	Psoas
11	chr14:65344400-65345600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
12	chr14:65344400-65345600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
13	chr14:65344600-65344800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr14:65344600-65345000	Enhancers	Right Ventricle	heart
15	chr14:65344600-65345400	Enhancers	Left Ventricle	heart
16	chr14:65344800-65345400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr14:65344800-65345600	Weak transcription	Psoas Muscle	Psoas
18	chr14:65345000-65345200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr14:65345000-65345400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr14:65345000-65345400	Active TSS	Right Ventricle	heart
21	chr14:65345000-65347200	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr14:65345000-65348000	Active TSS	Brain Anterior Caudate	brain
23	chr14:65345200-65345400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr14:65345200-65345600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr14:65345200-65345600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr14:65345200-65345800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr14:65345200-65345800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:65345200-65346400	Bivalent Enhancer	Fetal Brain Male	brain
29	chr14:65345200-65347400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:65345200-65348200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr14:65345400-65345600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
32	chr14:65345400-65345600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:65345400-65345600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr14:65345400-65345600	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr14:65345400-65345800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
36	chr14:65345400-65345800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr14:65345400-65345800	Bivalent Enhancer	Brain Germinal Matrix	brain
38	chr14:65345400-65345800	Flanking Active TSS	Right Ventricle	heart
39	chr14:65345400-65346000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
40	chr14:65345400-65347200	Active TSS	Left Ventricle	heart
41	chr14:65345400-65347800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr14:65345400-65347800	Active TSS	Right Atrium	heart
43	chr14:65345600-65345800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr14:65345600-65345800	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr14:65345600-65345800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
46	chr14:65345600-65345800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr14:65345600-65345800	Flanking Active TSS	Fetal Heart	heart
48	chr14:65345600-65345800	Enhancers	Pancreas	Pancrea
49	chr14:65345600-65345800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
50	chr14:65345600-65345800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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