Variant report

Variant	esv3326676
Chromosome Location	chr14:65345624-65348172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:258)
CpG islands
(count:733)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:65346612-65346812	K562	blood:	n/a	n/a
2	BACH1	chr14:65346136-65346313	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr14:65346586-65346932	K562	blood:	n/a	chr14:65346870-65346886 chr14:65346601-65346617 chr14:65346610-65346626
4	BHLHE40	chr14:65347197-65347386	K562	blood:	n/a	n/a
5	CBX3	chr14:65346602-65346868	K562	blood:	n/a	n/a
6	CCNT2	chr14:65345877-65347531	K562	blood:	n/a	chr14:65347261-65347270
7	CEBPD	chr14:65346469-65346978	K562	blood:	n/a	n/a
8	CEBPD	chr14:65346482-65346940	K562	blood:	n/a	n/a
9	CHD1	chr14:65347096-65347506	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr14:65346110-65346160	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr14:65346675-65346800	K562	blood:	n/a	n/a
12	CHD2	chr14:65347177-65347355	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr14:65346920-65347070	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr14:65346380-65346530	SK-N-SH_RA	brain:	n/a	chr14:65346410-65346420
15	CTCF	chr14:65345980-65346130	Caco-2	colon:	n/a	n/a
16	CTCF	chr14:65347237-65347415	MCF-7	breast:	n/a	chr14:65347305-65347312
17	CTCF	chr14:65347280-65347430	SK-N-SH_RA	brain:	n/a	chr14:65347305-65347312
18	CTCF	chr14:65346300-65346450	WERI-Rb-1	eye:	n/a	chr14:65346410-65346420
19	CTCF	chr14:65346920-65347070	GM12867	blood:	n/a	n/a
20	CTCF	chr14:65345920-65346070	Caco-2	colon:	n/a	n/a
21	CTCF	chr14:65347251-65347383	MCF-7	breast:	n/a	chr14:65347305-65347312
22	CTCF	chr14:65347020-65347170	Caco-2	colon:	n/a	n/a
23	CTCF	chr14:65346300-65346450	GM06990	blood:	n/a	chr14:65346410-65346420
24	CTCF	chr14:65346320-65346470	AG04449	skin:	n/a	chr14:65346410-65346420
25	CTCF	chr14:65347020-65347170	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr14:65347200-65347350	SK-N-SH_RA	brain:	n/a	chr14:65347305-65347312
27	CTCF	chr14:65347220-65347370	HRPEpiC	eye:	n/a	chr14:65347305-65347312
28	CTCF	chr14:65347280-65347430	GM12871	blood:	n/a	chr14:65347305-65347312
29	CTCF	chr14:65347270-65347306	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr14:65346378-65346499	A549	lung:	n/a	chr14:65346410-65346420
31	CTCF	chr14:65345960-65346110	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr14:65346860-65347010	GM12864	blood:	n/a	n/a
33	CTCF	chr14:65347215-65347253	GM10266	blood:	n/a	n/a
34	CTCF	chr14:65346860-65347010	GM12866	blood:	n/a	n/a
35	CTCF	chr14:65346940-65347090	A549	lung:	n/a	n/a
36	CTCF	chr14:65347249-65347370	A549	lung:	n/a	chr14:65347305-65347312
37	CTCF	chr14:65346430-65346438	GM12891	blood:	n/a	n/a
38	CTCF	chr14:65346392-65346433	HepG2	liver:	n/a	chr14:65346410-65346420
39	CTCF	chr14:65346940-65347090	GM12878	blood:	n/a	n/a
40	CTCF	chr14:65346960-65347110	Caco-2	colon:	n/a	n/a
41	CTCF	chr14:65346377-65346429	GM12891	blood:	n/a	chr14:65346410-65346420
42	CTCF	chr14:65347100-65347330	GM06990	blood:	n/a	chr14:65347305-65347312
43	CTCF	chr14:65347247-65347384	MCF-7	breast:	n/a	chr14:65347305-65347312
44	CTCF	chr14:65346320-65346470	SK-N-SH_RA	brain:	n/a	chr14:65346410-65346420
45	CTCF	chr14:65346320-65346470	WERI-Rb-1	eye:	n/a	chr14:65346410-65346420
46	CTCF	chr14:65346920-65347070	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr14:65345820-65345970	HEK293	kidney:	n/a	n/a
48	CTCF	chr14:65346960-65347110	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr14:65347340-65347490	Caco-2	colon:	n/a	chr14:65347416-65347434 chr14:65347418-65347431
50	CTCF	chr14:65346417-65346459	MCF-7	breast:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65345681-65345731	Hepatocyte	liver:	n/a
2	chr14:65345681-65345731	Hepatocyte	liver:	n/a
3	chr14:65345681-65345731	RPTEC	kidney:	n/a
4	chr14:65346490-65346540	SK-N-SH_RA	brain:	n/a
5	chr14:65346490-65346540	PFSK-1	brain:	n/a
6	chr14:65346875-65346925	GM12878	blood:	n/a
7	chr14:65346490-65346540	HCT-116	colon:	n/a
8	chr14:65346490-65346540	NHBE	bronchial:	n/a
9	chr14:65346686-65346736	K562	blood:	n/a
10	chr14:65346490-65346540	ECC-1	luminal epithelium:	n/a
11	chr14:65346148-65346198	SAEC	small airway:	n/a
12	chr14:65346875-65346925	BJ	skin:	n/a
13	chr14:65347518-65347568	SAEC	small airway:	n/a
14	chr14:65346721-65346771	PrEC	prostate:	n/a
15	chr14:65347138-65347188	Hepatocyte	liver:	n/a
16	chr14:65347138-65347188	HRPEpiC	eye:	n/a
17	chr14:65346148-65346198	ProgFib	skin:	n/a
18	chr14:65346686-65346736	HRPEpiC	eye:	n/a
19	chr14:65346721-65346771	HCM	heart:	n/a
20	chr14:65346490-65346540	AG04450	lung:	fetal
21	chr14:65347345-65347395	AG10803	skin:	n/a
22	chr14:65347138-65347188	NH-A	brain:	n/a
23	chr14:65346633-65346683	LNCaP	prostate:	n/a
24	chr14:65346875-65346925	MCF-7	breast:	n/a
25	chr14:65347275-65347325	GM12892	blood:	n/a
26	chr14:65346875-65346925	SAEC	small airway:	n/a
27	chr14:65346875-65346925	A549	lung:	n/a
28	chr14:65345681-65345731	AoSMC	blood vessel:	n/a
29	chr14:65346686-65346736	PFSK-1	brain:	n/a
30	chr14:65347345-65347395	RPTEC	kidney:	n/a
31	chr14:65346148-65346198	AG04450	lung:	fetal
32	chr14:65346721-65346771	Jurkat	blood:	n/a
33	chr14:65347345-65347395	HAEpiC	amniotic membrane:	n/a
34	chr14:65346490-65346540	MCF10A-Er-Src	breast:	n/a
35	chr14:65346721-65346771	HMEC	breast:	n/a
36	chr14:65347275-65347325	HCPEpiC	choroid plexus:	n/a
37	chr14:65347275-65347325	HCT-116	colon:	n/a
38	chr14:65347518-65347568	HPAEpiC	pulmonary alveolar:	n/a
39	chr14:65347138-65347188	HCPEpiC	choroid plexus:	n/a
40	chr14:65346686-65346736	AG09319	gingival:	n/a
41	chr14:65347518-65347568	T-47D	breast:	n/a
42	chr14:65345681-65345731	HRE	kidney:	n/a
43	chr14:65345681-65345731	NT2-D1	testis:	n/a
44	chr14:65346628-65346678	AG04450	lung:	fetal
45	chr14:65346490-65346540	HCM	heart:	n/a
46	chr14:65346721-65346771	HIPEpiC	eye:	n/a
47	chr14:65347275-65347325	HCF	heart:	n/a
48	chr14:65346490-65346540	A549	lung:	n/a
49	chr14:65346721-65346771	HRE	kidney:	n/a
50	chr14:65345681-65345731	HUVEC	blood vessel:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65346776..65348701-chr14:65353935..65356642,2	K562	blood:
2	chr14:65347870..65349476-chr14:65380923..65383635,2	MCF-7	breast:
3	chr14:65344538..65346383-chr14:65347730..65349628,3	K562	blood:
4	chr14:65326776..65328848-chr14:65344777..65346303,2	K562	blood:
5	chr14:65346800..65348898-chr14:65351625..65354536,2	K562	blood:
6	chr14:65344538..65346383-chr14:65347730..65349628,3	K562	blood:
7	chr14:65313975..65316632-chr14:65343546..65346097,2	MCF-7	breast:
8	chr14:65346776..65351606-chr14:65355142..65358604,5	K562	blood:
9	chr14:65347011..65349276-chr14:65350145..65352997,3	MCF-7	breast:
10	chr14:65228067..65229645-chr14:65348002..65349763,2	K562	blood:
11	chr12:57482006..57484279-chr14:65344658..65346177,2	MCF-7	breast:
12	chr14:64971440..64973382-chr14:65345698..65348415,2	MCF-7	breast:
13	chr14:65333231..65337568-chr14:65342616..65346293,4	K562	blood:

No data

Variant related genes	Relation type
SPTB	TF binding region
SPTB	CpG island
ENSG00000166886	chromatin interactions
ENSG00000089775	chromatin interactions
ENSG00000258289	chromatin interactions
ENSG00000125954	chromatin interactions
ENSG00000126804	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	rs544786636	chr14:65345653-65345654	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
5	rs7141985	chr14:65345670-65345671	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577769919	chr14:65345674-65345675	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
7	rs540224786	chr14:65345711-65345712	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs559888881	chr14:65345758-65345759	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs2884307	chr14:65345813-65345814	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190692701	chr14:65345822-65345823	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs183454727	chr14:65345848-65345849	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs531418603	chr14:65345874-65345875	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs551121268	chr14:65345895-65345896	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs576518500	chr14:65345969-65345970	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs188113528	chr14:65346002-65346003	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs547009794	chr14:65346005-65346006	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs566734712	chr14:65346044-65346045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs74578433	chr14:65346054-65346055	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs76820994	chr14:65346060-65346061	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs531675534	chr14:65346073-65346074	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs572328998	chr14:65346080-65346081	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs28370916	chr14:65346094-65346095	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538452846	chr14:65346101-65346102	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs558337641	chr14:65346106-65346107	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs28679793	chr14:65346160-65346161	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs75788411	chr14:65346188-65346189	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs112069604	chr14:65346240-65346241	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs560128619	chr14:65346353-65346354	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs184347875	chr14:65346356-65346357	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs542574323	chr14:65346385-65346386	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs562451868	chr14:65346455-65346456	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs574504027	chr14:65346532-65346533	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs531112547	chr14:65346551-65346552	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs111751893	chr14:65346557-65346558	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs186907143	chr14:65346579-65346580	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs192485624	chr14:65346599-65346600	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs1004842	chr14:65346681-65346682	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs372466486	chr14:65346685-65346686	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs564727339	chr14:65346691-65346692	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs1951493	chr14:65346847-65346848	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs546753177	chr14:65346848-65346849	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs1951492	chr14:65346895-65346896	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs529288765	chr14:65346905-65346906	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs549358869	chr14:65346917-65346918	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs569575576	chr14:65346941-65346942	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs1951491	chr14:65346950-65346951	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558431110	chr14:65346954-65346955	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs1951490	chr14:65346957-65346958	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533915482	chr14:65346983-65346984	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs553600697	chr14:65347011-65347012	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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

Chromatin state (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65344200-65346000	Flanking Active TSS	K562	blood
2	chr14:65345000-65347200	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr14:65345000-65348000	Active TSS	Brain Anterior Caudate	brain
4	chr14:65345200-65345800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr14:65345200-65345800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:65345200-65346400	Bivalent Enhancer	Fetal Brain Male	brain
7	chr14:65345200-65347400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:65345200-65348200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr14:65345400-65345800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
10	chr14:65345400-65345800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
11	chr14:65345400-65345800	Bivalent Enhancer	Brain Germinal Matrix	brain
12	chr14:65345400-65345800	Flanking Active TSS	Right Ventricle	heart
13	chr14:65345400-65346000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
14	chr14:65345400-65347200	Active TSS	Left Ventricle	heart
15	chr14:65345400-65347800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr14:65345400-65347800	Active TSS	Right Atrium	heart
17	chr14:65345600-65345800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr14:65345600-65345800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr14:65345600-65345800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
20	chr14:65345600-65345800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr14:65345600-65345800	Flanking Active TSS	Fetal Heart	heart
22	chr14:65345600-65345800	Enhancers	Pancreas	Pancrea
23	chr14:65345600-65345800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
24	chr14:65345600-65345800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr14:65345600-65345800	Bivalent Enhancer	HSMMtube	muscle
26	chr14:65345600-65346000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:65345600-65346000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr14:65345600-65346000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr14:65345600-65346000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
30	chr14:65345600-65346000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:65345600-65346000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:65345600-65346000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
33	chr14:65345600-65346000	Bivalent/Poised TSS	Fetal Kidney	kidney
34	chr14:65345600-65346200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr14:65345600-65346200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:65345600-65346200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:65345600-65346200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr14:65345600-65346200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr14:65345600-65347000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
40	chr14:65345600-65347600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr14:65345600-65347800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:65345600-65347800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:65345600-65347800	Active TSS	Brain Hippocampus Middle	brain
44	chr14:65345600-65347800	Active TSS	Psoas Muscle	Psoas
45	chr14:65345600-65348000	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr14:65345800-65346000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:65345800-65346000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:65345800-65346000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:65345800-65346000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr14:65345800-65346000	Bivalent/Poised TSS	Primary T cells from cord blood	blood

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