Variant report

Variant	esv3321796
Chromosome Location	chr6:33587999-33590547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:445)
CpG islands
(count:917)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:33589863-33589941	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr6:33589210-33589636	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr6:33588743-33588841	K562	blood:	n/a	n/a
4	BHLHE40	chr6:33589438-33589557	K562	blood:	n/a	n/a
5	BHLHE40	chr6:33588787-33589175	GM12878	blood:	n/a	n/a
6	BRCA1	chr6:33588000-33588122	GM12878	blood:	n/a	n/a
7	CBX3	chr6:33588449-33589158	K562	blood:	n/a	n/a
8	CCNT2	chr6:33588608-33589696	K562	blood:	n/a	n/a
9	CEBPB	chr6:33588316-33588671	ECC-1	luminal epithelium:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
10	CEBPB	chr6:33588359-33588710	HepG2	liver:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
11	CEBPB	chr6:33588251-33589583	Hela-S3	cervix:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
12	CEBPB	chr6:33588353-33588695	H1-hESC	embryonic stem cell:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
13	CEBPB	chr6:33588322-33588675	K562	blood:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
14	CEBPB	chr6:33588174-33588710	ECC-1	luminal epithelium:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
15	CEBPB	chr6:33588358-33588713	A549	lung:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
16	CEBPB	chr6:33588361-33588727	IMR90	lung:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
17	CEBPB	chr6:33588358-33588743	K562	blood:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
18	CHD1	chr6:33588273-33588979	GM12878	blood:	n/a	n/a
19	CHD1	chr6:33588173-33588701	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr6:33589576-33589719	GM12878	blood:	n/a	n/a
21	CHD2	chr6:33588609-33589047	K562	blood:	n/a	n/a
22	CHD2	chr6:33587841-33589491	Hela-S3	cervix:	n/a	n/a
23	CREB1	chr6:33588850-33589288	A549	lung:	n/a	n/a
24	CTBP2	chr6:33588552-33589028	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr6:33588520-33588670	GM12871	blood:	n/a	n/a
26	CTCF	chr6:33588160-33588310	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr6:33588251-33588311	MCF-7	breast:	n/a	n/a
28	CTCF	chr6:33588520-33588670	GM12872	blood:	n/a	n/a
29	CTCF	chr6:33588212-33588316	MCF-7	breast:	n/a	n/a
30	CTCF	chr6:33588180-33588330	A549	lung:	n/a	n/a
31	CTCF	chr6:33588500-33588650	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr6:33588240-33588390	HepG2	liver:	n/a	n/a
33	CTCF	chr6:33588535-33588977	K562	blood:	n/a	n/a
34	CTCF	chr6:33588250-33588305	GM19238	blood:	n/a	n/a
35	CTCF	chr6:33588230-33588307	MCF-7	breast:	n/a	n/a
36	CTCF	chr6:33588120-33588270	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr6:33588120-33588270	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr6:33588160-33588310	MCF-7	breast:	n/a	n/a
39	CTCF	chr6:33588400-33588550	A549	lung:	n/a	n/a
40	CTCF	chr6:33588240-33588390	SAEC	small airway:	n/a	n/a
41	CTCF	chr6:33588160-33588310	SAEC	small airway:	n/a	n/a
42	CTCF	chr6:33588160-33588310	BJ	skin:	n/a	n/a
43	CTCF	chr6:33588240-33588390	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr6:33588120-33588270	HepG2	liver:	n/a	n/a
45	CTCF	chr6:33588160-33588310	HMEC	breast:	n/a	n/a
46	CTCF	chr6:33588260-33588410	HCFaa	heart:	n/a	n/a
47	CTCF	chr6:33588200-33588350	AG09319	gingival:	n/a	n/a
48	CTCF	chr6:33588140-33588290	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr6:33588140-33588290	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr6:33588240-33588390	HCPEpiC	choroid plexus:	n/a	n/a

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33589030-33589080	ECC-1	luminal epithelium:	n/a
2	chr6:33588302-33588352	HAEpiC	amniotic membrane:	n/a
3	chr6:33589030-33589080	ECC-1	luminal epithelium:	n/a
4	chr6:33588302-33588352	HAEpiC	amniotic membrane:	n/a
5	chr6:33589172-33589222	HepG2	liver:	n/a
6	chr6:33588302-33588352	HEEpiC	esophagus:	n/a
7	chr6:33588302-33588352	NHBE	bronchial:	n/a
8	chr6:33589418-33589468	RPTEC	kidney:	n/a
9	chr6:33588219-33588269	HIPEpiC	eye:	n/a
10	chr6:33589131-33589181	AG04449	skin:	fetal
11	chr6:33588302-33588352	SK-N-SH_RA	brain:	n/a
12	chr6:33588875-33588925	ECC-1	luminal epithelium:	n/a
13	chr6:33590458-33590508	RPTEC	kidney:	n/a
14	chr6:33589418-33589468	HPAEpiC	pulmonary alveolar:	n/a
15	chr6:33589691-33589741	U87	brain:	n/a
16	chr6:33589118-33589168	PFSK-1	brain:	n/a
17	chr6:33589061-33589111	BE2_C	brain:	n/a
18	chr6:33588302-33588352	Hela-S3	cervix:	n/a
19	chr6:33589061-33589111	NT2-D1	testis:	n/a
20	chr6:33588278-33588328	NB4	blood:	n/a
21	chr6:33588932-33588982	HAEpiC	amniotic membrane:	n/a
22	chr6:33589061-33589111	NHDF-neo	bronchial:	n/a
23	chr6:33588944-33588994	HepG2	liver:	n/a
24	chr6:33588932-33588982	HCF	heart:	n/a
25	chr6:33589691-33589741	GM19239	blood:	n/a
26	chr6:33588944-33588994	NT2-D1	testis:	n/a
27	chr6:33589172-33589222	K562	blood:	n/a
28	chr6:33589118-33589168	HCF	heart:	n/a
29	chr6:33589172-33589222	HCPEpiC	choroid plexus:	n/a
30	chr6:33588278-33588328	GM19239	blood:	n/a
31	chr6:33589019-33589069	HL-60	blood:	n/a
32	chr6:33590458-33590508	HepG2	liver:	n/a
33	chr6:33588278-33588328	CMK	blood:	n/a
34	chr6:33588932-33588982	GM12892	blood:	n/a
35	chr6:33589131-33589181	A549	lung:	n/a
36	chr6:33588278-33588328	U87	brain:	n/a
37	chr6:33589172-33589222	HAEpiC	amniotic membrane:	n/a
38	chr6:33589019-33589069	ECC-1	luminal epithelium:	n/a
39	chr6:33588219-33588269	AG10803	skin:	n/a
40	chr6:33589172-33589222	HIPEpiC	eye:	n/a
41	chr6:33589030-33589080	H1-hESC	embryonic stem cell:	embryo
42	chr6:33589019-33589069	SK-N-MC	brain:	n/a
43	chr6:33588875-33588925	PANC-1	pancreas:	n/a
44	chr6:33588219-33588269	AG09319	gingival:	n/a
45	chr6:33588875-33588925	SAEC	small airway:	n/a
46	chr6:33588875-33588925	HCPEpiC	choroid plexus:	n/a
47	chr6:33588219-33588269	HRCEpiC	kidney:	n/a
48	chr6:33589131-33589181	HCF	heart:	n/a
49	chr6:33588875-33588925	HEEpiC	esophagus:	n/a
50	chr6:33590458-33590508	Hela-S3	cervix:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33586212..33588848-chr6:33589323..33592935,3	K562	blood:
2	chr12:77458598..77459505-chr6:33588247..33588790,2	Hela-S3	cervix:
3	chr6:33550022..33555745-chr6:33586647..33590467,5	MCF-7	breast:
4	chr6:33587172..33590152-chr6:34203876..34205466,2	K562	blood:
5	chr17:44270863..44271390-chr6:33589321..33590284,2	Hela-S3	cervix:
6	chr6:33561576..33563352-chr6:33589353..33591952,2	K562	blood:
7	chr6:13574530..13575381-chr6:33588931..33589769,3	Hela-S3	cervix:
8	chr15:73925194..73925924-chr6:33589142..33589802,2	Hela-S3	cervix:
9	chr12:53297626..53300477-chr6:33588925..33590822,2	MCF-7	breast:
10	chr6:33382580..33384156-chr6:33587956..33590051,2	K562	blood:
11	chr1:155231631..155232403-chr6:33588518..33589463,2	Hela-S3	cervix:
12	chr6:33590320..33593181-chr6:33667665..33670096,2	MCF-7	breast:
13	chr6:33587976..33588692-chr7:152372698..152373478,2	Hela-S3	cervix:
14	chr6:33589305..33592124-chr6:33949466..33952412,2	MCF-7	breast:
15	chr6:33588748..33590902-chr6:33677628..33680104,3	K562	blood:
16	chr18:18691523..18692461-chr6:33588062..33589054,2	Hela-S3	cervix:
17	chr6:33546546..33549178-chr6:33588334..33590241,2	K562	blood:
18	chr1:93544219..93545082-chr6:33588370..33589018,2	Hela-S3	cervix:
19	chr6:33589679..33592438-chr6:33605298..33608151,2	MCF-7	breast:
20	chr1:149223926..149224778-chr6:33589055..33589566,2	Hela-S3	cervix:
21	chr19:11491411..11492183-chr6:33588219..33588815,2	Hela-S3	cervix:
22	chr14:75745307..75745924-chr6:33588441..33589108,2	Hela-S3	cervix:
23	chr6:33588748..33590595-chr6:33677611..33680104,2	K562	blood:
24	chr17:56735246..56737826-chr6:33586590..33589099,2	MCF-7	breast:
25	chr6:33238566..33241234-chr6:33590269..33592399,2	K562	blood:
26	chr17:56736454..56738602-chr6:33589465..33592275,2	MCF-7	breast:
27	chr6:33551460..33554975-chr6:33588078..33592105,4	K562	blood:
28	chr6:33587667..33592228-chr6:33677016..33679936,5	MCF-7	breast:

No data

Variant related genes	Relation type
ITPR3	TF binding region
ITPR3	CpG island
ENSG00000187266	chromatin interactions
ENSG00000112511	chromatin interactions
ENSG00000143033	chromatin interactions
ENSG00000120071	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000137309	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000096433	chromatin interactions
ENSG00000137288	chromatin interactions
ENSG00000067900	chromatin interactions
ENSG00000165891	chromatin interactions
ENSG00000196584	chromatin interactions
ENSG00000030110	chromatin interactions
ENSG00000156642	chromatin interactions
ENSG00000214401	chromatin interactions
ENSG00000223501	chromatin interactions
ENSG00000204188	chromatin interactions
ENSG00000116521	chromatin interactions
ENSG00000124523	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547696574	chr6:33588014-33588015	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs375326255	chr6:33588090-33588091	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs544510517	chr6:33588094-33588095	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs189883453	chr6:33588128-33588129	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs3748079	chr6:33588147-33588148	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs545183387	chr6:33588223-33588224	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs560679665	chr6:33588241-33588242	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs112807326	chr6:33588347-33588348	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs548232654	chr6:33588350-33588351	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs59929559	chr6:33588351-33588352	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531705000	chr6:33588370-33588371	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs549406015	chr6:33588371-33588372	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs35692021	chr6:33588372-33588373	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs397970723	chr6:33588386-33588387	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs550917295	chr6:33588456-33588457	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs569149833	chr6:33588488-33588489	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs539678667	chr6:33588535-33588536	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs551276173	chr6:33588568-33588569	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs9368768	chr6:33588610-33588611	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533651011	chr6:33588660-33588661	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs555397715	chr6:33588701-33588702	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs13195024	chr6:33588703-33588704	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537418338	chr6:33588725-33588726	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs556475023	chr6:33588787-33588788	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs577910079	chr6:33588927-33588928	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs545632552	chr6:33588932-33588933	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs371475468	chr6:33588956-33588957	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs35329444	chr6:33588985-33588986	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576350718	chr6:33589002-33589003	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs6910386	chr6:33589032-33589033	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs182527100	chr6:33589069-33589070	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs561406215	chr6:33589146-33589147	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs531768153	chr6:33589232-33589233	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs550181574	chr6:33589246-33589247	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs562811219	chr6:33589295-33589296	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs533261572	chr6:33589325-33589326	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs55774724	chr6:33589332-33589333	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566555760	chr6:33589336-33589337	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs528479868	chr6:33589361-33589362	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs370008398	chr6:33589362-33589363	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs542121922	chr6:33589364-33589365	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs548824848	chr6:33589390-33589391	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs201726270	chr6:33589404-33589405	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs374371137	chr6:33589415-33589416	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs537490726	chr6:33589423-33589424	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs140536519	chr6:33589430-33589431	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs201373316	chr6:33589448-33589449	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs200227346	chr6:33589485-33589486	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs201818292	chr6:33589492-33589493	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs554411699	chr6:33589493-33589494	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	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
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
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
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
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33578800-33588000	Weak transcription	Gastric	stomach
2	chr6:33579400-33588000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:33581600-33588000	Weak transcription	Brain Anterior Caudate	brain
4	chr6:33586000-33588000	Enhancers	Spleen	Spleen
5	chr6:33586600-33588200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:33586800-33588000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:33586800-33588000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:33586800-33588000	Enhancers	Stomach Mucosa	stomach
9	chr6:33586800-33588600	Flanking Bivalent TSS/Enh	HepG2	liver
10	chr6:33587000-33588000	Enhancers	HSMMtube	muscle
11	chr6:33587000-33588200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:33587000-33588600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr6:33587200-33588000	Bivalent/Poised TSS	Fetal Brain Male	brain
14	chr6:33587200-33588000	Flanking Active TSS	Hela-S3	cervix
15	chr6:33587200-33588000	Flanking Active TSS	NHDF-Ad	bronchial
16	chr6:33587200-33588600	Flanking Active TSS	HUVEC	blood vessel
17	chr6:33587200-33589000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:33587400-33588000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:33587400-33588000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr6:33587400-33588000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:33587400-33588000	Flanking Active TSS	A549	lung
22	chr6:33587400-33588000	Flanking Active TSS	Dnd41	blood
23	chr6:33587600-33588000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:33587600-33588000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
25	chr6:33587600-33588000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr6:33587600-33588000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr6:33587600-33588000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:33587600-33588000	Bivalent Enhancer	Brain Germinal Matrix	brain
29	chr6:33587600-33588000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr6:33587600-33588000	Flanking Active TSS	Fetal Lung	lung
31	chr6:33587600-33588200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:33587600-33588200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
33	chr6:33587600-33588200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr6:33587600-33588200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr6:33587600-33588200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:33587600-33588200	Flanking Active TSS	HMEC	breast
37	chr6:33587600-33588200	Flanking Active TSS	HSMM	muscle
38	chr6:33587600-33588200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
39	chr6:33587600-33588600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr6:33587600-33588600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:33587600-33588600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
42	chr6:33587600-33589000	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr6:33587600-33589000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
44	chr6:33587600-33590000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:33587600-33590000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr6:33587600-33590200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:33587800-33588000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr6:33587800-33588000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:33587800-33588000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:33587800-33588000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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