Variant report

Variant	nsv892748
Chromosome Location	chr9:22005647-22011642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:677)
CpG islands
(count:183)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:677 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:22009455-22009660	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:22011022-22011185	HepG2	liver:	n/a	n/a
3	BACH1	chr9:22008573-22009356	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:22005927-22006069	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr9:22005124-22005695	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr9:22009119-22009789	GM12878	blood:	n/a	chr9:22009374-22009383
7	BCLAF1	chr9:22008524-22008976	GM12878	blood:	n/a	n/a
8	BHLHE40	chr9:22008580-22008925	GM12878	blood:	n/a	n/a
9	BRCA1	chr9:22008562-22009823	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr9:22008729-22009196	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr9:22006250-22006572	Hela-S3	cervix:	n/a	chr9:22006407-22006418
12	CEBPB	chr9:22006272-22006564	H1-hESC	embryonic stem cell:	n/a	chr9:22006407-22006418
13	CEBPB	chr9:22006263-22006559	IMR90	lung:	n/a	chr9:22006407-22006418
14	CEBPB	chr9:22006261-22006469	HepG2	liver:	n/a	chr9:22006407-22006418
15	CEBPB	chr9:22008568-22009761	Hela-S3	cervix:	n/a	n/a
16	CEBPD	chr9:22009402-22009659	HepG2	liver:	n/a	n/a
17	CHD1	chr9:22008491-22008543	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr9:22007880-22009989	IMR90	lung:	n/a	n/a
19	CHD1	chr9:22009071-22009266	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr9:22006041-22006430	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr9:22008560-22009794	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr9:22009344-22009683	GM12878	blood:	n/a	n/a
23	CHD2	chr9:22008667-22009259	HepG2	liver:	n/a	n/a
24	CHD2	chr9:22008628-22009693	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr9:22009098-22009675	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr9:22008536-22009696	HepG2	liver:	n/a	n/a
27	CREB1	chr9:22008561-22009708	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTBP2	chr9:22008576-22009656	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTBP2	chr9:22005142-22006348	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr9:22008700-22008850	GM12864	blood:	n/a	n/a
31	CTCF	chr9:22009200-22009350	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr9:22008660-22008810	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr9:22008720-22008870	GM12870	blood:	n/a	n/a
34	CTCF	chr9:22006200-22006350	AG04449	skin:	n/a	n/a
35	CTCF	chr9:22008700-22008850	GM12866	blood:	n/a	n/a
36	CTCF	chr9:22008740-22008890	HEK293	kidney:	n/a	n/a
37	CTCF	chr9:22008700-22008850	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr9:22008988-22009153	GM12878	blood:	n/a	n/a
39	CTCF	chr9:22008640-22009091	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr9:22006120-22006270	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr9:22008700-22008850	Caco-2	colon:	n/a	n/a
42	CTCF	chr9:22008700-22008850	GM12801	blood:	n/a	n/a
43	CTCF	chr9:22008720-22008870	HCFaa	heart:	n/a	n/a
44	CTCF	chr9:22006197-22006217	GM19239	blood:	n/a	n/a
45	CTCF	chr9:22009240-22009390	RPTEC	kidney:	n/a	n/a
46	CTCF	chr9:22008655-22008905	GM13976	blood:	n/a	n/a
47	CTCF	chr9:22006200-22006350	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr9:22008720-22008870	GM12875	blood:	n/a	n/a
49	CTCF	chr9:22008740-22008890	BJ	skin:	n/a	n/a
50	CTCF	chr9:22008720-22008870	HRPEpiC	eye:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:22009355-22009405	SK-N-MC	brain:	n/a
2	chr9:22009355-22009405	AG09309	skin:	n/a
3	chr9:22009595-22009645	IMR90	lung:	fetal
4	chr9:22009355-22009405	HAEpiC	amniotic membrane:	n/a
5	chr9:22008970-22009020	BE2_C	brain:	n/a
6	chr9:22009595-22009645	BJ	skin:	n/a
7	chr9:22009355-22009405	A549	lung:	n/a
8	chr9:22009595-22009645	HCT-116	colon:	n/a
9	chr9:22008970-22009020	MCF-7	breast:	n/a
10	chr9:22009595-22009645	Hepatocyte	liver:	n/a
11	chr9:22009595-22009645	HL-60	blood:	n/a
12	chr9:22008970-22009020	PANC-1	pancreas:	n/a
13	chr9:22009595-22009645	GM12878	blood:	n/a
14	chr9:22009355-22009405	PrEC	prostate:	n/a
15	chr9:22008970-22009020	NHDF-neo	bronchial:	n/a
16	chr9:22009595-22009645	MCF-7	breast:	n/a
17	chr9:22009355-22009405	AG09319	gingival:	n/a
18	chr9:22008970-22009020	NHBE	bronchial:	n/a
19	chr9:22009355-22009405	HCF	heart:	n/a
20	chr9:22008970-22009020	IMR90	lung:	fetal
21	chr9:22009355-22009405	SK-N-SH_RA	brain:	n/a
22	chr9:22009595-22009645	K562	blood:	n/a
23	chr9:22008970-22009020	NH-A	brain:	n/a
24	chr9:22008970-22009020	T-47D	breast:	n/a
25	chr9:22009355-22009405	HPAEpiC	pulmonary alveolar:	n/a
26	chr9:22009355-22009405	ovcar-3	ovarian:	n/a
27	chr9:22009355-22009405	HL-60	blood:	n/a
28	chr9:22008970-22009020	HEEpiC	esophagus:	n/a
29	chr9:22008970-22009020	SK-N-MC	brain:	n/a
30	chr9:22009355-22009405	ECC-1	luminal epithelium:	n/a
31	chr9:22009595-22009645	HEEpiC	esophagus:	n/a
32	chr9:22009355-22009405	LNCaP	prostate:	n/a
33	chr9:22009595-22009645	PANC-1	pancreas:	n/a
34	chr9:22009595-22009645	HRE	kidney:	n/a
35	chr9:22008970-22009020	RPTEC	kidney:	n/a
36	chr9:22009595-22009645	SKMC	muscle:	n/a
37	chr9:22008970-22009020	AoSMC	blood vessel:	n/a
38	chr9:22009595-22009645	GM12892	blood:	n/a
39	chr9:22009355-22009405	NHBE	bronchial:	n/a
40	chr9:22009595-22009645	NT2-D1	testis:	n/a
41	chr9:22008970-22009020	Jurkat	blood:	n/a
42	chr9:22009595-22009645	AG04450	lung:	fetal
43	chr9:22009595-22009645	HRCEpiC	kidney:	n/a
44	chr9:22008970-22009020	HIPEpiC	eye:	n/a
45	chr9:22009595-22009645	SAEC	small airway:	n/a
46	chr9:22009355-22009405	MCF10A-Er-Src	breast:	n/a
47	chr9:22009595-22009645	Hela-S3	cervix:	n/a
48	chr9:22008970-22009020	AG04449	skin:	fetal
49	chr9:22009355-22009405	K562	blood:	n/a
50	chr9:22008970-22009020	HCM	heart:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:22007424..22010079-chr9:22214224..22216298,2	MCF-7	breast:
2	chr9:22007147..22011040-chr9:22011810..22014340,4	MCF-7	breast:
3	chr7:73588443..73589078-chr9:22008320..22009302,2	Hela-S3	cervix:
4	chr9:22005608..22009530-chr9:22211237..22215024,4	MCF-7	breast:
5	chr9:22003003..22006002-chr9:22110995..22113643,2	MCF-7	breast:
6	chr9:21800247..21802715-chr9:22007122..22010872,3	MCF-7	breast:
7	chr9:21992827..21995558-chr9:22007456..22010608,5	MCF-7	breast:
8	chr11:62622316..62623099-chr9:22008957..22009804,2	Hela-S3	cervix:
9	chr9:22003592..22005818-chr9:22239083..22240944,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CDKN2B	hsa-miR-375	chr9:22007102-22007096

Variant related genes	Relation type
CDKN2B	TF binding region
UBA52P6	TF binding region
CDKN2B	CpG island
UBA52P6	CpG island
ENSG00000240498	chromatin interactions
ENSG00000255717	chromatin interactions
ENSG00000264545	chromatin interactions
ENSG00000266446	chromatin interactions
ENSG00000106682	chromatin interactions
ENSG00000147889	chromatin interactions
ENSG00000099810	chromatin interactions
ENSG00000215221	chromatin interactions
ENSG00000236921	chromatin interactions

Extended variants
information (count: 258 )
Associated
traits (count: 162 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3217982	chr9:22005647-22005648	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191774214	chr9:22005663-22005664	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562885506	chr9:22005681-22005682	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574045583	chr9:22005740-22005741	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542047894	chr9:22005749-22005750	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184190153	chr9:22005774-22005775	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575482260	chr9:22005791-22005792	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544534160	chr9:22005839-22005840	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531705888	chr9:22005852-22005853	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189341541	chr9:22005882-22005883	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577743794	chr9:22005892-22005893	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539846785	chr9:22005901-22005902	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368728826	chr9:22005934-22005935	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs146540928	chr9:22005941-22005942	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375565366	chr9:22005957-22005958	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545104474	chr9:22005980-22005981	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140430251	chr9:22006005-22006006	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371415045	chr9:22006027-22006028	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191233212	chr9:22006041-22006042	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs62637622	chr9:22006043-22006044	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372284765	chr9:22006060-22006061	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377723228	chr9:22006077-22006078	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs202221094	chr9:22006081-22006082	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376104829	chr9:22006089-22006090	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs148421170	chr9:22006147-22006148	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565688322	chr9:22006148-22006149	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142570894	chr9:22006154-22006155	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368412874	chr9:22006189-22006190	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370236504	chr9:22006195-22006196	Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201282617	chr9:22006202-22006203	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144131923	chr9:22006207-22006208	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531754702	chr9:22006229-22006230	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551689864	chr9:22006257-22006258	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs3217981	chr9:22006269-22006270	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2069426	chr9:22006273-22006274	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs368143223	chr9:22006283-22006284	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs567609105	chr9:22006301-22006302	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs536369645	chr9:22006311-22006312	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs974336	chr9:22006348-22006349	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs145498745	chr9:22006368-22006369	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs367815834	chr9:22006486-22006487	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs78411540	chr9:22006500-22006501	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs575150054	chr9:22006501-22006502	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs372703931	chr9:22006511-22006512	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs117271659	chr9:22006524-22006525	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs188843538	chr9:22006536-22006537	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs368869741	chr9:22006593-22006594	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs3217980	chr9:22006607-22006608	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs559326756	chr9:22006701-22006702	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs368867598	chr9:22006738-22006739	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:162)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Oral cancer	22144094	CNVD
Lung cancer	21569311	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	20164920	CNVD
Breast cancer	17142309	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	17982442	CNVD
Cancer	21272361	CNVD
Acute myeloid leukemia	21251322	CNVD
Burkitt''s lymphoma	19759907	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Glioblastoma multiforme	21713760	CNVD

Chromatin state (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21995800-22008400	Weak transcription	Aorta	Aorta
2	chr9:21996400-22007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:22003000-22005800	Strong transcription	HSMM	muscle
4	chr9:22003800-22006800	Transcr. at gene 5' and 3'	NH-A	brain
5	chr9:22004200-22006400	Bivalent Enhancer	Primary B cells from cord blood	blood
6	chr9:22004400-22006000	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr9:22004800-22006400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr9:22004800-22006600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:22005000-22005800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
10	chr9:22005000-22005800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:22005000-22005800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:22005000-22005800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:22005000-22006000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:22005000-22006000	ZNF genes & repeats	Esophagus	oesophagus
15	chr9:22005000-22006200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr9:22005000-22006200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:22005000-22006400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr9:22005000-22006400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr9:22005000-22006400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr9:22005000-22006400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr9:22005000-22006400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
22	chr9:22005000-22006400	Transcr. at gene 5' and 3'	HSMMtube	muscle
23	chr9:22005000-22006600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr9:22005000-22006600	Transcr. at gene 5' and 3'	Hela-S3	cervix
25	chr9:22005000-22008400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr9:22005200-22005800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:22005200-22005800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr9:22005200-22005800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
29	chr9:22005200-22005800	Enhancers	Gastric	stomach
30	chr9:22005200-22006000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr9:22005200-22006000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:22005200-22006000	Genic enhancers	HMEC	breast
33	chr9:22005200-22006000	Strong transcription	Osteobl	bone
34	chr9:22005200-22006200	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr9:22005200-22006400	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:22005200-22006400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:22005200-22006400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:22005200-22006400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:22005200-22006400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
40	chr9:22005200-22006400	Enhancers	Pancreas	Pancrea
41	chr9:22005200-22006400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
42	chr9:22005200-22006400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
43	chr9:22005200-22006400	Bivalent Enhancer	Spleen	Spleen
44	chr9:22005200-22006400	Transcr. at gene 5' and 3'	NHLF	lung
45	chr9:22005200-22006600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr9:22005200-22006800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
47	chr9:22005400-22005800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr9:22005400-22005800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:22005400-22005800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
50	chr9:22005400-22005800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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