Variant report

Variant	esv1794899
Chromosome Location	chr4:187025713-187097336
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	chr4:187058552-187058902	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:187058644-187058864	K562	blood:	n/a	n/a
3	ATF1	chr4:187027151-187027480	K562	blood:	n/a	n/a
4	ATF2	chr4:187071057-187071421	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr4:187027166-187027483	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr4:187055315-187055866	GM12878	blood:	n/a	n/a
7	BACH1	chr4:187066156-187066584	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr4:187082521-187082663	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr4:187026701-187026862	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr4:187025719-187026243	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr4:187058431-187058728	GM12878	blood:	n/a	n/a
12	BATF	chr4:187055418-187055866	GM12878	blood:	n/a	n/a
13	BATF	chr4:187058420-187058694	GM12878	blood:	n/a	n/a
14	BATF	chr4:187055371-187055785	GM12878	blood:	n/a	n/a
15	BCL11A	chr4:187055420-187055843	GM12878	blood:	n/a	n/a
16	BCL3	chr4:187055433-187055716	GM12878	blood:	n/a	n/a
17	BCL3	chr4:187059720-187060074	GM12878	blood:	n/a	n/a
18	BCLAF1	chr4:187055345-187055835	GM12878	blood:	n/a	n/a
19	BCLAF1	chr4:187055428-187055813	GM12878	blood:	n/a	n/a
20	BHLHE40	chr4:187039012-187039026	K562	blood:	n/a	n/a
21	BHLHE40	chr4:187055496-187055825	GM12878	blood:	n/a	n/a
22	BHLHE40	chr4:187059455-187059456	GM12878	blood:	n/a	n/a
23	BHLHE40	chr4:187090880-187090890	K562	blood:	n/a	n/a
24	BRCA1	chr4:187082411-187082510	GM12878	blood:	n/a	n/a
25	CEBPB	chr4:187037859-187038158	MCF-7	breast:	n/a	chr4:187038050-187038059 chr4:187038050-187038059 chr4:187038048-187038061 chr4:187038050-187038059 chr4:187038048-187038059
26	CEBPB	chr4:187078910-187079176	K562	blood:	n/a	n/a
27	CEBPB	chr4:187078864-187079223	HepG2	liver:	n/a	n/a
28	CEBPB	chr4:187089147-187089328	HepG2	liver:	n/a	n/a
29	CEBPB	chr4:187037847-187038225	ECC-1	luminal epithelium:	n/a	chr4:187038050-187038059 chr4:187038050-187038059 chr4:187038048-187038061 chr4:187038050-187038059 chr4:187038048-187038059
30	CEBPB	chr4:187058612-187058894	A549	lung:	n/a	n/a
31	CEBPB	chr4:187037849-187038207	ECC-1	luminal epithelium:	n/a	chr4:187038050-187038059 chr4:187038050-187038059 chr4:187038048-187038061 chr4:187038050-187038059 chr4:187038048-187038059
32	CEBPB	chr4:187078955-187079103	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr4:187037868-187038236	A549	lung:	n/a	chr4:187038050-187038059 chr4:187038050-187038059 chr4:187038048-187038061 chr4:187038050-187038059 chr4:187038048-187038059
34	CEBPB	chr4:187037881-187038220	Hela-S3	cervix:	n/a	chr4:187038050-187038059 chr4:187038050-187038059 chr4:187038048-187038061 chr4:187038050-187038059 chr4:187038048-187038059
35	CEBPB	chr4:187078966-187079181	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr4:187058752-187058939	K562	blood:	n/a	n/a
37	CEBPB	chr4:187037874-187038237	H1-hESC	embryonic stem cell:	n/a	chr4:187038050-187038059 chr4:187038050-187038059 chr4:187038048-187038061 chr4:187038050-187038059 chr4:187038048-187038059
38	CEBPB	chr4:187037845-187038266	A549	lung:	n/a	chr4:187038050-187038059 chr4:187038050-187038059 chr4:187038048-187038061 chr4:187038050-187038059 chr4:187038048-187038059
39	CEBPB	chr4:187089187-187089327	A549	lung:	n/a	n/a
40	CEBPB	chr4:187037872-187038236	IMR90	lung:	n/a	chr4:187038050-187038059 chr4:187038050-187038059 chr4:187038048-187038061 chr4:187038050-187038059 chr4:187038048-187038059
41	CEBPB	chr4:187078958-187079135	IMR90	lung:	n/a	n/a
42	CEBPB	chr4:187037865-187038243	K562	blood:	n/a	chr4:187038050-187038059 chr4:187038050-187038059 chr4:187038048-187038061 chr4:187038050-187038059 chr4:187038048-187038059
43	CEBPB	chr4:187037900-187038225	A549	lung:	n/a	chr4:187038050-187038059 chr4:187038050-187038059 chr4:187038048-187038061 chr4:187038050-187038059 chr4:187038048-187038059
44	CEBPB	chr4:187059932-187059959	HepG2	liver:	n/a	n/a
45	CEBPB	chr4:187037867-187038233	HepG2	liver:	n/a	chr4:187038050-187038059 chr4:187038050-187038059 chr4:187038048-187038061 chr4:187038050-187038059 chr4:187038048-187038059
46	CEBPB	chr4:187067232-187067556	H1-hESC	embryonic stem cell:	n/a	chr4:187067399-187067412
47	CHD1	chr4:187026105-187026212	H1-hESC	embryonic stem cell:	n/a	chr4:187026142-187026152
48	CHD1	chr4:187059861-187059865	GM12878	blood:	n/a	n/a
49	CHD2	chr4:187055449-187055790	GM12878	blood:	n/a	n/a
50	CHD2	chr4:187082399-187082540	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:187026225-187026275	PANC-1	pancreas:	n/a
2	chr4:187026225-187026275	PANC-1	pancreas:	n/a
3	chr4:187069057-187069107	SK-N-SH	brain:	n/a
4	chr4:187026970-187027020	RPTEC	kidney:	n/a
5	chr4:187088169-187088219	NT2-D1	testis:	n/a
6	chr4:187065417-187065467	ProgFib	skin:	n/a
7	chr4:187026710-187026760	ECC-1	luminal epithelium:	n/a
8	chr4:187069057-187069107	Jurkat	blood:	n/a
9	chr4:187070357-187070407	HIPEpiC	eye:	n/a
10	chr4:187026970-187027020	NB4	blood:	n/a
11	chr4:187074031-187074081	ECC-1	luminal epithelium:	n/a
12	chr4:187025886-187025936	GM06990	blood:	n/a
13	chr4:187088169-187088219	HNPCEpiC	eye:	n/a
14	chr4:187026970-187027020	AG09309	skin:	n/a
15	chr4:187071162-187071212	HRPEpiC	eye:	n/a
16	chr4:187026225-187026275	HEEpiC	esophagus:	n/a
17	chr4:187039516-187039566	AoSMC	blood vessel:	n/a
18	chr4:187074031-187074081	HEEpiC	esophagus:	n/a
19	chr4:187026710-187026760	HCT-116	colon:	n/a
20	chr4:187065940-187065990	GM19239	blood:	n/a
21	chr4:187074031-187074081	A549	lung:	n/a
22	chr4:187065417-187065467	HEK293	kidney:	embryo
23	chr4:187066279-187066329	U87	brain:	n/a
24	chr4:187053574-187053624	HPAEpiC	pulmonary alveolar:	n/a
25	chr4:187026970-187027020	AG10803	skin:	n/a
26	chr4:187071162-187071212	HNPCEpiC	eye:	n/a
27	chr4:187090481-187090531	HCF	heart:	n/a
28	chr4:187037256-187037306	AG04450	lung:	fetal
29	chr4:187070303-187070353	HEK293	kidney:	embryo
30	chr4:187074031-187074081	ovcar-3	ovarian:	n/a
31	chr4:187090481-187090531	BJ	skin:	n/a
32	chr4:187026710-187026760	HRPEpiC	eye:	n/a
33	chr4:187071162-187071212	U87	brain:	n/a
34	chr4:187065955-187066005	PFSK-1	brain:	n/a
35	chr4:187088191-187088241	ovcar-3	ovarian:	n/a
36	chr4:187065950-187066000	AoSMC	blood vessel:	n/a
37	chr4:187025897-187025947	HEEpiC	esophagus:	n/a
38	chr4:187026278-187026328	RPTEC	kidney:	n/a
39	chr4:187026225-187026275	AG04449	skin:	fetal
40	chr4:187090536-187090586	HEEpiC	esophagus:	n/a
41	chr4:187037318-187037368	BE2_C	brain:	n/a
42	chr4:187065417-187065467	Hepatocyte	liver:	n/a
43	chr4:187065846-187065896	SK-N-SH_RA	brain:	n/a
44	chr4:187025886-187025936	HEEpiC	esophagus:	n/a
45	chr4:187088191-187088241	HRPEpiC	eye:	n/a
46	chr4:187026710-187026760	HCM	heart:	n/a
47	chr4:187063756-187063806	AoSMC	blood vessel:	n/a
48	chr4:187026710-187026760	HNPCEpiC	eye:	n/a
49	chr4:187066505-187066555	ovcar-3	ovarian:	n/a
50	chr4:187070357-187070407	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:187058298..187058901-chr4:187122712..187123588,2	MCF-7	breast:
2	chr4:187053833..187057505-chr4:187060435..187064133,3	K562	blood:
3	chr4:186953201..186953720-chr4:187058277..187058867,2	MCF-7	breast:
4	chr4:186988895..186989419-chr4:187058283..187058978,2	K562	blood:
5	chr4:187036166..187038039-chr4:187110587..187113537,2	K562	blood:
6	chr4:187092687..187094578-chr4:187097251..187099352,2	MCF-7	breast:
7	chr4:187062784..187065890-chr4:187111242..187113420,3	MCF-7	breast:
8	chr4:187080678..187082912-chr4:187084577..187086317,2	K562	blood:
9	chr4:186988859..186989716-chr4:187058329..187059203,5	MCF-7	breast:
10	chr4:187053833..187057505-chr4:187060435..187064133,3	K562	blood:
11	chr4:186988828..186989568-chr4:187053779..187054412,2	MCF-7	breast:
12	chr4:187083351..187085783-chr4:187086821..187088983,2	K562	blood:
13	chr4:187092198..187094078-chr4:187111646..187113279,2	MCF-7	breast:
14	chr4:187023730..187026664-chr4:187030524..187032198,2	MCF-7	breast:
15	chr4:187053677..187057505-chr4:187060435..187064236,4	K562	blood:
16	chr4:187083351..187085783-chr4:187086821..187088983,2	K562	blood:
17	chr4:187077276..187078819-chr4:187080715..187083352,2	K562	blood:
18	chr4:187061612..187063617-chr4:187065011..187066705,2	K562	blood:
19	chr4:187091730..187094624-chr4:187097179..187100415,3	MCF-7	breast:
20	chr4:187092687..187094578-chr4:187097251..187099352,2	MCF-7	breast:
21	chr4:187053677..187057505-chr4:187060435..187064236,4	K562	blood:
22	chr4:187065362..187066941-chr4:187069127..187071220,2	K562	blood:
23	chr4:187077276..187078819-chr4:187080715..187083352,2	K562	blood:
24	chr4:187065362..187066941-chr4:187069127..187071220,2	K562	blood:
25	chr4:186985477..186986987-chr4:187047828..187050010,2	K562	blood:

Variant related genes	Relation type
ENSG00000253013	TF binding region
ENSG00000250327	TF binding region
FAM149A	TF binding region
ORAOV1P1	TF binding region
ENSG00000253013	CpG island
ENSG00000250327	CpG island
FAM149A	CpG island
ORAOV1P1	CpG island
ENSG00000251008	chromatin interactions
ENSG00000269302	chromatin interactions
ENSG00000109794	chromatin interactions
ENSG00000145476	chromatin interactions

Extended variants
information (count: 3194 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:3194 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537189935	chr4:187025734-187025735	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs73873719	chr4:187025785-187025786	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568692846	chr4:187025793-187025794	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs112416130	chr4:187025825-187025826	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs115973251	chr4:187025831-187025832	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368211621	chr4:187025848-187025849	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs539945256	chr4:187025859-187025860	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs13140491	chr4:187025878-187025879	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs13116038	chr4:187025879-187025880	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs10536167	chr4:187025896-187025897	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs187448948	chr4:187025910-187025911	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs548894495	chr4:187025927-187025928	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs114861951	chr4:187025952-187025953	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs576522615	chr4:187025971-187025972	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs115416898	chr4:187025990-187025991	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555712467	chr4:187026016-187026017	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs10029755	chr4:187026028-187026029	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540512281	chr4:187026031-187026032	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs559925250	chr4:187026044-187026045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs576583564	chr4:187026124-187026125	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs545515005	chr4:187026141-187026142	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs113726250	chr4:187026158-187026159	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs368256839	chr4:187026167-187026168	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs531419350	chr4:187026192-187026193	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs372953696	chr4:187026218-187026219	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs547904122	chr4:187026225-187026226	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs375899463	chr4:187026229-187026230	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs528013234	chr4:187026236-187026237	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs536692165	chr4:187026258-187026259	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs548025618	chr4:187026264-187026265	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs571080821	chr4:187026280-187026281	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs13141472	chr4:187026316-187026317	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs540007683	chr4:187026360-187026361	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs550383428	chr4:187026361-187026362	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs532124963	chr4:187026382-187026383	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs73025977	chr4:187026395-187026396	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535942540	chr4:187026408-187026409	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs190778751	chr4:187026505-187026506	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs199623729	chr4:187026557-187026558	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs368649834	chr4:187026558-187026559	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs533848253	chr4:187026577-187026578	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs553621908	chr4:187026588-187026589	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs550623234	chr4:187026607-187026608	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs575756168	chr4:187026611-187026612	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs13146756	chr4:187026626-187026627	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs375792327	chr4:187026658-187026659	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369391501	chr4:187026672-187026673	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568591648	chr4:187026739-187026740	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561246987	chr4:187026820-187026821	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs561533469	chr4:187026835-187026836	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17086460	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1464 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187025200-187026000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr4:187025400-187025800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
3	chr4:187025400-187025800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:187025400-187025800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
5	chr4:187025400-187025800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:187025400-187025800	Active TSS	Fetal Brain Male	brain
7	chr4:187025400-187025800	Flanking Active TSS	Fetal Intestine Large	intestine
8	chr4:187025400-187025800	Flanking Active TSS	Fetal Intestine Small	intestine
9	chr4:187025400-187025800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
10	chr4:187025400-187025800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
11	chr4:187025400-187025800	Flanking Active TSS	Pancreas	Pancrea
12	chr4:187025400-187025800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
13	chr4:187025400-187025800	Flanking Active TSS	Rectal Smooth Muscle	rectum
14	chr4:187025400-187025800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
15	chr4:187025400-187026000	Active TSS	Fetal Brain Female	brain
16	chr4:187025400-187026200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr4:187025400-187026200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:187025400-187026200	Active TSS	Colonic Mucosa	Colon
19	chr4:187025400-187026200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr4:187025400-187026800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr4:187025400-187026800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:187025400-187026800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr4:187025400-187026800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
24	chr4:187025400-187026800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
25	chr4:187025400-187027000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr4:187025400-187027000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr4:187025400-187027000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:187025400-187027000	Active TSS	Duodenum Mucosa	Duodenum
29	chr4:187025400-187027200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:187025400-187027200	Active TSS	Colon Smooth Muscle	Colon
31	chr4:187025400-187027200	Active TSS	Fetal Kidney	kidney
32	chr4:187025400-187027400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr4:187025400-187028400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr4:187025600-187025800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:187025600-187025800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr4:187025600-187025800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:187025600-187025800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:187025600-187025800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
39	chr4:187025600-187025800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:187025600-187025800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:187025600-187025800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
42	chr4:187025600-187025800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:187025600-187025800	Bivalent Enhancer	Primary B cells from cord blood	blood
44	chr4:187025600-187025800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr4:187025600-187025800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
46	chr4:187025600-187025800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
47	chr4:187025600-187025800	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:187025600-187025800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr4:187025600-187025800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
50	chr4:187025600-187025800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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