Variant report

Variant	nsv884072
Chromosome Location	chr6:30433611-30447987
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	ATF3	chr6:30438818-30439151	K562	blood:	n/a	n/a
2	CCNT2	chr6:30433986-30434442	K562	blood:	n/a	chr6:30434014-30434023
3	CEBPB	chr6:30438786-30439148	K562	blood:	n/a	chr6:30439061-30439074 chr6:30438959-30438970
4	CEBPB	chr6:30438777-30439163	Hela-S3	cervix:	n/a	chr6:30439061-30439074 chr6:30438959-30438970
5	CEBPB	chr6:30438803-30439128	HepG2	liver:	n/a	chr6:30439061-30439074 chr6:30438959-30438970
6	CEBPB	chr6:30438805-30439103	H1-hESC	embryonic stem cell:	n/a	chr6:30439061-30439074 chr6:30438959-30438970
7	CEBPB	chr6:30438794-30439097	A549	lung:	n/a	chr6:30439061-30439074 chr6:30438959-30438970
8	CEBPB	chr6:30438765-30439122	K562	blood:	n/a	chr6:30439061-30439074 chr6:30438959-30438970
9	CEBPB	chr6:30438780-30439151	IMR90	lung:	n/a	chr6:30439061-30439074 chr6:30438959-30438970
10	CTCF	chr6:30434260-30434410	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr6:30439665-30439743	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr6:30434420-30434570	HepG2	liver:	n/a	n/a
13	E2F4	chr6:30433997-30434384	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F6	chr6:30434015-30434242	K562	blood:	n/a	n/a
15	E2F6	chr6:30433915-30434639	A549	lung:	n/a	n/a
16	E2F6	chr6:30434017-30434512	K562	blood:	n/a	n/a
17	E2F6	chr6:30434253-30434497	K562	blood:	n/a	n/a
18	ELF1	chr6:30433948-30434245	K562	blood:	n/a	chr6:30434031-30434044 chr6:30434033-30434042
19	ELF1	chr6:30433840-30434160	K562	blood:	n/a	chr6:30434031-30434044 chr6:30434033-30434042
20	ELF1	chr6:30434481-30434759	K562	blood:	n/a	n/a
21	ELF1	chr6:30433919-30434800	GM12878	blood:	n/a	chr6:30434031-30434044 chr6:30434033-30434042
22	ELF1	chr6:30434329-30434755	K562	blood:	n/a	n/a
23	EP300	chr6:30438886-30439072	K562	blood:	n/a	chr6:30438960-30438974 chr6:30439050-30439060
24	EP300	chr6:30438808-30439053	Hela-S3	cervix:	n/a	chr6:30438960-30438974
25	FAM48A	chr6:30447891-30447964	GM12878	blood:	n/a	n/a
26	FOS	chr6:30447811-30448127	MCF10A-Er-Src	breast:	n/a	chr6:30447979-30447988
27	FOS	chr6:30447837-30448073	MCF10A-Er-Src	breast:	n/a	chr6:30447979-30447988
28	FOS	chr6:30447815-30448125	MCF10A-Er-Src	breast:	n/a	chr6:30447979-30447988
29	FOS	chr6:30447832-30448128	MCF10A-Er-Src	breast:	n/a	chr6:30447979-30447988
30	FOXP2	chr6:30434058-30434448	PFSK-1	brain:	n/a	n/a
31	GABPA	chr6:30434055-30434253	GM12878	blood:	n/a	n/a
32	GABPA	chr6:30433930-30434352	H1-hESC	embryonic stem cell:	n/a	n/a
33	GABPA	chr6:30434066-30434271	GM12878	blood:	n/a	n/a
34	GABPA	chr6:30434065-30434259	HepG2	liver:	n/a	n/a
35	GABPA	chr6:30433964-30434682	MCF-7	breast:	n/a	n/a
36	HMGN3	chr6:30434011-30434536	K562	blood:	n/a	n/a
37	JUN	chr6:30438794-30439088	HepG2	liver:	n/a	chr6:30438960-30438973
38	JUN	chr6:30447972-30447995	H1-hESC	embryonic stem cell:	n/a	chr6:30447979-30447988
39	JUND	chr6:30438844-30439033	K562	blood:	n/a	n/a
40	JUND	chr6:30447932-30448040	HepG2	liver:	n/a	chr6:30447979-30447988 chr6:30447977-30447988
41	JUND	chr6:30438834-30439096	HepG2	liver:	n/a	n/a
42	MAX	chr6:30434065-30434267	K562	blood:	n/a	n/a
43	MAX	chr6:30433902-30434948	A549	lung:	n/a	n/a
44	MAX	chr6:30433989-30434492	ECC-1	luminal epithelium:	n/a	n/a
45	MAX	chr6:30433688-30434841	K562	blood:	n/a	chr6:30433883-30433894 chr6:30433880-30433895 chr6:30433885-30433894
46	MAX	chr6:30433960-30434375	A549	lung:	n/a	n/a
47	MAX	chr6:30434330-30434635	K562	blood:	n/a	n/a
48	MAX	chr6:30433962-30434788	A549	lung:	n/a	n/a
49	MAZ	chr6:30434109-30434303	K562	blood:	n/a	n/a
50	MBD4	chr6:30433904-30434338	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30434525-30434575	T-47D	breast:	n/a
2	chr6:30434324-30434374	AG10803	skin:	n/a
3	chr6:30434525-30434575	T-47D	breast:	n/a
4	chr6:30434324-30434374	AG10803	skin:	n/a
5	chr6:30434412-30434462	HRPEpiC	eye:	n/a
6	chr6:30434514-30434564	Hela-S3	cervix:	n/a
7	chr6:30434552-30434602	HRE	kidney:	n/a
8	chr6:30434552-30434602	BE2_C	brain:	n/a
9	chr6:30434236-30434286	SK-N-SH_RA	brain:	n/a
10	chr6:30434291-30434341	HRE	kidney:	n/a
11	chr6:30434412-30434462	AG09319	gingival:	n/a
12	chr6:30433749-30433799	H1-hESC	embryonic stem cell:	embryo
13	chr6:30434406-30434456	HCT-116	colon:	n/a
14	chr6:30433888-30433938	GM06990	blood:	n/a
15	chr6:30434523-30434573	SK-N-MC	brain:	n/a
16	chr6:30434129-30434179	Caco-2	colon:	n/a
17	chr6:30434552-30434602	NT2-D1	testis:	n/a
18	chr6:30433838-30433888	HRPEpiC	eye:	n/a
19	chr6:30434338-30434388	RPTEC	kidney:	n/a
20	chr6:30433749-30433799	A549	lung:	n/a
21	chr6:30433943-30433993	GM12878	blood:	n/a
22	chr6:30434236-30434286	Hela-S3	cervix:	n/a
23	chr6:30433749-30433799	HRCEpiC	kidney:	n/a
24	chr6:30434109-30434159	AG04449	skin:	fetal
25	chr6:30434208-30434258	HL-60	blood:	n/a
26	chr6:30434421-30434471	HPAEpiC	pulmonary alveolar:	n/a
27	chr6:30437493-30437543	K562	blood:	n/a
28	chr6:30433749-30433799	HRPEpiC	eye:	n/a
29	chr6:30434129-30434179	PrEC	prostate:	n/a
30	chr6:30434406-30434456	GM12891	blood:	n/a
31	chr6:30434514-30434564	AG09319	gingival:	n/a
32	chr6:30434311-30434361	HMEC	breast:	n/a
33	chr6:30433888-30433938	GM12892	blood:	n/a
34	chr6:30434072-30434122	ProgFib	skin:	n/a
35	chr6:30434412-30434462	HepG2	liver:	n/a
36	chr6:30434421-30434471	NHBE	bronchial:	n/a
37	chr6:30434311-30434361	HCT-116	colon:	n/a
38	chr6:30434109-30434159	HRCEpiC	kidney:	n/a
39	chr6:30434523-30434573	CMK	blood:	n/a
40	chr6:30434208-30434258	ProgFib	skin:	n/a
41	chr6:30434421-30434471	HNPCEpiC	eye:	n/a
42	chr6:30434406-30434456	ovcar-3	ovarian:	n/a
43	chr6:30434311-30434361	HRCEpiC	kidney:	n/a
44	chr6:30434412-30434462	HCF	heart:	n/a
45	chr6:30434338-30434388	AG09309	skin:	n/a
46	chr6:30434514-30434564	HL-60	blood:	n/a
47	chr6:30434129-30434179	NHDF-neo	bronchial:	n/a
48	chr6:30434291-30434341	MCF-7	breast:	n/a
49	chr6:30434324-30434374	HEEpiC	esophagus:	n/a
50	chr6:30434072-30434122	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30431267..30434167-chr6:30612886..30615610,2	MCF-7	breast:
2	chr6:30433130..30435301-chr6:30582917..30586018,4	MCF-7	breast:
3	chr6:30447797..30449612-chr6:30512660..30515323,2	MCF-7	breast:
4	chr6:30446384..30451689-chr6:30578094..30585004,12	MCF-7	breast:
5	chr6:30431634..30434565-chr6:30582972..30585070,2	K562	blood:
6	chr6:30446515..30448275-chr6:30457111..30458820,2	K562	blood:
7	chr6:30447631..30450065-chr6:30691817..30695001,3	K562	blood:
8	chr6:30431634..30435485-chr6:30582972..30586314,3	K562	blood:
9	chr6:30447949..30451648-chr6:30569801..30572499,4	MCF-7	breast:
10	chr6:30447476..30449412-chr6:30509865..30511998,2	K562	blood:
11	chr6:30428958..30430493-chr6:30439620..30441525,2	MCF-7	breast:
12	chr6:30446309..30448997-chr6:30451629..30454419,2	MCF-7	breast:

Variant related genes	Relation type
SUCLA2P1	TF binding region
TMPOP1	TF binding region
SUCLA2P1	CpG island
TMPOP1	CpG island
ENSG00000204592	chromatin interactions
ENSG00000204568	chromatin interactions
ENSG00000236603	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000204564	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2524172	chr6:30433611-30433612	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536797847	chr6:30433618-30433619	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs531363678	chr6:30433622-30433623	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs141704869	chr6:30433623-30433624	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs145999653	chr6:30433625-30433626	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs539794981	chr6:30433836-30433837	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs556613898	chr6:30433854-30433855	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs375728331	chr6:30433867-30433868	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs576377430	chr6:30433870-30433871	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs543791564	chr6:30433882-30433883	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs542173202	chr6:30433925-30433926	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs73727414	chr6:30433943-30433944	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs572190972	chr6:30433953-30433954	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs541121267	chr6:30434038-30434039	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs563980928	chr6:30434149-30434150	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs559314463	chr6:30434174-30434175	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs532875303	chr6:30434178-30434179	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs181206305	chr6:30434202-30434203	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs139894462	chr6:30434209-30434210	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs376478238	chr6:30434224-30434225	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs183898593	chr6:30434271-30434272	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs568629075	chr6:30434274-30434275	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs534173966	chr6:30434328-30434329	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs112216487	chr6:30434342-30434343	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs146747318	chr6:30434350-30434351	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs11963852	chr6:30434351-30434352	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs112812114	chr6:30434355-30434356	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs547987115	chr6:30434356-30434357	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs542843327	chr6:30434365-30434366	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs568013491	chr6:30434430-30434431	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs7761083	chr6:30434448-30434449	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7761210	chr6:30434471-30434472	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555425117	chr6:30434472-30434473	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs139214685	chr6:30434535-30434536	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs7764934	chr6:30434566-30434567	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs180746900	chr6:30434594-30434595	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs557950511	chr6:30434708-30434709	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs373752199	chr6:30434729-30434730	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs527622265	chr6:30434788-30434789	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs60519056	chr6:30434819-30434820	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs9278690	chr6:30434831-30434832	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs12175296	chr6:30434833-30434834	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs7747740	chr6:30434840-30434841	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs577287637	chr6:30434864-30434865	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs7747873	chr6:30434900-30434901	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs562925433	chr6:30434901-30434902	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs149979124	chr6:30434928-30434929	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs542506472	chr6:30434935-30434936	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs562196089	chr6:30434965-30434966	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs527996396	chr6:30434972-30434973	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30429800-30434200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:30431400-30434000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
3	chr6:30431600-30434200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:30431600-30434200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:30431800-30433800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
6	chr6:30431800-30434200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr6:30431800-30434400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr6:30432000-30433800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
9	chr6:30432000-30434000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr6:30432000-30434000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:30432000-30434200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr6:30432000-30434200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
13	chr6:30432200-30433800	Weak transcription	Right Atrium	heart
14	chr6:30432200-30434200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
15	chr6:30432200-30434200	Weak transcription	Gastric	stomach
16	chr6:30432400-30433800	Weak transcription	Pancreas	Pancrea
17	chr6:30432400-30434000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
18	chr6:30432600-30433800	Bivalent Enhancer	Fetal Heart	heart
19	chr6:30432600-30434000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:30432800-30434400	Enhancers	Spleen	Spleen
21	chr6:30433000-30433800	Bivalent Enhancer	Primary B cells from cord blood	blood
22	chr6:30433000-30434200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr6:30433200-30434000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:30433200-30434200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr6:30433200-30434800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr6:30433400-30433800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:30433400-30434000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:30433600-30433800	Bivalent Enhancer	Colon Smooth Muscle	Colon
29	chr6:30433600-30434000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:30433600-30434000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
31	chr6:30433600-30434000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
32	chr6:30433600-30434200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
33	chr6:30433800-30434000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:30433800-30434000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:30433800-30434000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:30433800-30434000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
37	chr6:30433800-30434000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
38	chr6:30433800-30434000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:30433800-30434000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:30433800-30434000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
41	chr6:30433800-30434000	Enhancers	Aorta	Aorta
42	chr6:30433800-30434000	Bivalent Enhancer	Brain Anterior Caudate	brain
43	chr6:30433800-30434000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
44	chr6:30433800-30434000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
45	chr6:30433800-30434000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr6:30433800-30434000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr6:30433800-30434000	Bivalent Enhancer	Left Ventricle	heart
48	chr6:30433800-30434000	Enhancers	Pancreas	Pancrea
49	chr6:30433800-30434000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
50	chr6:30433800-30434000	Active TSS	Right Ventricle	heart

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