Variant report

Variant	nsv893746
Chromosome Location	chr9:115983540-116022826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:760)
CpG islands
(count:245)
Chromatin interactive
region (count:49)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:760 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:115983338-115984123	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:116006738-116007075	K562	blood:	n/a	n/a
3	ARID3A	chr9:115983506-115983747	K562	blood:	n/a	n/a
4	ARID3A	chr9:115984342-115985124	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:115990291-115990958	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:115993968-115994315	K562	blood:	n/a	n/a
7	ATF1	chr9:115983423-115983901	K562	blood:	n/a	n/a
8	ATF1	chr9:115990413-115990708	K562	blood:	n/a	n/a
9	ATF2	chr9:115983017-115983980	H1-hESC	embryonic stem cell:	n/a	chr9:115983730-115983741
10	ATF2	chr9:115983304-115984037	GM12878	blood:	n/a	chr9:115983730-115983741
11	ATF2	chr9:115983337-115983806	H1-hESC	embryonic stem cell:	n/a	chr9:115983730-115983741
12	ATF2	chr9:115983357-115983928	GM12878	blood:	n/a	chr9:115983730-115983741
13	ATF3	chr9:115983301-115983851	H1-hESC	embryonic stem cell:	n/a	chr9:115983729-115983740 chr9:115983731-115983739 chr9:115983729-115983742 chr9:115983730-115983741 chr9:115983731-115983742 chr9:115983729-115983742 chr9:115983732-115983739
14	ATF3	chr9:115983220-115983829	HepG2	liver:	n/a	chr9:115983729-115983740 chr9:115983731-115983739 chr9:115983729-115983742 chr9:115983730-115983741 chr9:115983731-115983742 chr9:115983729-115983742 chr9:115983732-115983739
15	ATF3	chr9:115984765-115985094	K562	blood:	n/a	n/a
16	ATF3	chr9:115983440-115983907	K562	blood:	n/a	chr9:115983729-115983740 chr9:115983731-115983739 chr9:115983729-115983742 chr9:115983730-115983741 chr9:115983731-115983742 chr9:115983729-115983742 chr9:115983732-115983739
17	ATF3	chr9:115983233-115983781	HepG2	liver:	n/a	chr9:115983729-115983740 chr9:115983731-115983739 chr9:115983729-115983742 chr9:115983730-115983741 chr9:115983731-115983742 chr9:115983729-115983742 chr9:115983732-115983739
18	ATF3	chr9:115983170-115983797	K562	blood:	n/a	chr9:115983729-115983740 chr9:115983731-115983739 chr9:115983729-115983742 chr9:115983730-115983741 chr9:115983731-115983742 chr9:115983729-115983742 chr9:115983732-115983739
19	ATF3	chr9:115983440-115983712	GM12878	blood:	n/a	n/a
20	ATF3	chr9:115983213-115983792	GM12878	blood:	n/a	chr9:115983729-115983740 chr9:115983731-115983739 chr9:115983729-115983742 chr9:115983730-115983741 chr9:115983731-115983742 chr9:115983729-115983742 chr9:115983732-115983739
21	ATF3	chr9:115983419-115983792	H1-hESC	embryonic stem cell:	n/a	chr9:115983729-115983740 chr9:115983731-115983739 chr9:115983729-115983742 chr9:115983730-115983741 chr9:115983731-115983742 chr9:115983729-115983742 chr9:115983732-115983739
22	BACH1	chr9:115984091-115984099	K562	blood:	n/a	n/a
23	BCLAF1	chr9:115983290-115983801	GM12878	blood:	n/a	chr9:115983759-115983768 chr9:115983750-115983763 chr9:115983606-115983615
24	BHLHE40	chr9:115990322-115990675	K562	blood:	n/a	n/a
25	BHLHE40	chr9:115990316-115990750	HepG2	liver:	n/a	n/a
26	BHLHE40	chr9:115982127-115984239	GM12878	blood:	n/a	chr9:115984103-115984119
27	BHLHE40	chr9:115983468-115983999	HepG2	liver:	n/a	n/a
28	BHLHE40	chr9:115984504-115984694	K562	blood:	n/a	n/a
29	BHLHE40	chr9:115983525-115983870	A549	lung:	n/a	n/a
30	BHLHE40	chr9:115995278-115995394	GM12878	blood:	n/a	n/a
31	BHLHE40	chr9:115982855-115984189	K562	blood:	n/a	chr9:115984103-115984119
32	BRCA1	chr9:115983208-115984068	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr9:115983701-115984066	HepG2	liver:	n/a	n/a
34	BRCA1	chr9:115984414-115984624	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr9:115983809-115983814	H1-hESC	embryonic stem cell:	n/a	n/a
36	CBX3	chr9:115983381-115984015	K562	blood:	n/a	n/a
37	CCNT2	chr9:115983258-115983982	K562	blood:	n/a	n/a
38	CCNT2	chr9:115984567-115984860	K562	blood:	n/a	chr9:115984594-115984603
39	CCNT2	chr9:115990353-115990646	K562	blood:	n/a	n/a
40	CCNT2	chr9:115994158-115994358	K562	blood:	n/a	n/a
41	CEBPB	chr9:115998242-115998421	K562	blood:	n/a	n/a
42	CEBPB	chr9:115984886-115985075	HepG2	liver:	n/a	chr9:115984988-115984999
43	CEBPB	chr9:115984809-115985177	HepG2	liver:	n/a	chr9:115984988-115984999
44	CEBPB	chr9:115983187-115984104	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr9:115990450-115990568	K562	blood:	n/a	n/a
46	CEBPB	chr9:115984666-115985181	K562	blood:	n/a	chr9:115984988-115984999 chr9:115984696-115984713
47	CEBPB	chr9:115998197-115998460	IMR90	lung:	n/a	n/a
48	CEBPB	chr9:115983278-115983855	HepG2	liver:	n/a	n/a
49	CEBPB	chr9:115996030-115996216	K562	blood:	n/a	n/a
50	CEBPB	chr9:115984817-115985170	A549	lung:	n/a	chr9:115984988-115984999

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:115983636-115983686	AG04450	lung:	fetal
2	chr9:115983636-115983686	AG04450	lung:	fetal
3	chr9:115983636-115983686	NB4	blood:	n/a
4	chr9:115983984-115984034	RPTEC	kidney:	n/a
5	chr9:115987035-115987085	SKMC	muscle:	n/a
6	chr9:115983984-115984034	SK-N-SH_RA	brain:	n/a
7	chr9:115983636-115983686	K562	blood:	n/a
8	chr9:115984268-115984318	Jurkat	blood:	n/a
9	chr9:115983984-115984034	HMEC	breast:	n/a
10	chr9:115984268-115984318	SK-N-MC	brain:	n/a
11	chr9:115983984-115984034	AG04450	lung:	fetal
12	chr9:115987035-115987085	Hela-S3	cervix:	n/a
13	chr9:115983636-115983686	Hepatocyte	liver:	n/a
14	chr9:115984268-115984318	H1-hESC	embryonic stem cell:	embryo
15	chr9:115987035-115987085	HMEC	breast:	n/a
16	chr9:115983636-115983686	SKMC	muscle:	n/a
17	chr9:115983636-115983686	RPTEC	kidney:	n/a
18	chr9:115983636-115983686	HEEpiC	esophagus:	n/a
19	chr9:115983984-115984034	HUVEC	blood vessel:	n/a
20	chr9:115987035-115987085	HCF	heart:	n/a
21	chr9:115983984-115984034	ovcar-3	ovarian:	n/a
22	chr9:115983636-115983686	SAEC	small airway:	n/a
23	chr9:115983636-115983686	IMR90	lung:	fetal
24	chr9:115984268-115984318	HCT-116	colon:	n/a
25	chr9:115987035-115987085	ProgFib	skin:	n/a
26	chr9:115987035-115987085	HPAEpiC	pulmonary alveolar:	n/a
27	chr9:115983984-115984034	Hepatocyte	liver:	n/a
28	chr9:115983984-115984034	GM06990	blood:	n/a
29	chr9:115983984-115984034	PANC-1	pancreas:	n/a
30	chr9:115983636-115983686	GM19239	blood:	n/a
31	chr9:115983984-115984034	HCPEpiC	choroid plexus:	n/a
32	chr9:115984268-115984318	HL-60	blood:	n/a
33	chr9:115983636-115983686	Caco-2	colon:	n/a
34	chr9:115983984-115984034	SAEC	small airway:	n/a
35	chr9:115987035-115987085	BJ	skin:	n/a
36	chr9:115983636-115983686	HUVEC	blood vessel:	n/a
37	chr9:115983984-115984034	HL-60	blood:	n/a
38	chr9:115984268-115984318	GM12891	blood:	n/a
39	chr9:115983636-115983686	LNCaP	prostate:	n/a
40	chr9:115987035-115987085	PrEC	prostate:	n/a
41	chr9:115984268-115984318	NT2-D1	testis:	n/a
42	chr9:115984268-115984318	Caco-2	colon:	n/a
43	chr9:115983636-115983686	A549	lung:	n/a
44	chr9:115987035-115987085	MCF10A-Er-Src	breast:	n/a
45	chr9:115984268-115984318	U87	brain:	n/a
46	chr9:115984268-115984318	HPAEpiC	pulmonary alveolar:	n/a
47	chr9:115984268-115984318	HCF	heart:	n/a
48	chr9:115983984-115984034	HRPEpiC	eye:	n/a
49	chr9:115983636-115983686	HNPCEpiC	eye:	n/a
50	chr9:115987035-115987085	CMK	blood:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116001272..116004183-chr9:116010675..116013051,2	MCF-7	breast:
2	chr9:115991545..115993932-chr9:115995693..115997298,2	K562	blood:
3	chr9:115980759..115986590-chr9:115988652..115992433,8	K562	blood:
4	chr9:115981728..115986983-chr9:116035777..116040437,9	K562	blood:
5	chr9:115983506..115986924-chr9:115988828..115991669,3	K562	blood:
6	chr9:116003514..116005216-chr9:116035646..116037704,2	MCF-7	breast:
7	chr9:115986078..115988319-chr9:115992917..115996032,3	MCF-7	breast:
8	chr9:115980360..115986264-chr9:116170629..116175189,6	K562	blood:
9	chr9:115983573..115985886-chr9:115986006..115988568,3	MCF-7	breast:
10	chr9:116001272..116004183-chr9:116010675..116013051,2	MCF-7	breast:
11	chr11:67275557..67276131-chr9:115984372..115984872,2	Hela-S3	cervix:
12	chr9:115985715..115987380-chr9:116017322..116019580,2	K562	blood:
13	chr9:115986078..115988319-chr9:115992917..115996032,3	MCF-7	breast:
14	chr9:115988910..115990516-chr9:115992954..115994537,2	MCF-7	breast:
15	chr9:115990891..115993253-chr9:115993931..115999009,4	K562	blood:
16	chr9:115983851..115985489-chr9:115994207..115996988,2	MCF-7	breast:
17	chr9:116016494..116018131-chr9:116019825..116021408,2	K562	blood:
18	chr9:116014996..116017587-chr9:116018102..116020800,2	K562	blood:
19	chr9:115993143..115995233-chr9:116002735..116005457,2	K562	blood:
20	chr9:115983607..115986374-chr9:116170251..116172763,3	MCF-7	breast:
21	chr12:53894115..53894858-chr9:115983781..115984688,2	Hela-S3	cervix:
22	chr9:115999423..116002068-chr9:116006233..116008819,2	K562	blood:
23	chr9:115981837..115986059-chr9:115990865..115995580,5	MCF-7	breast:
24	chr9:115981374..115984099-chr9:116016863..116018969,2	MCF-7	breast:
25	chr9:115988089..115990143-chr9:115997118..115999123,2	MCF-7	breast:
26	chr9:116011649..116014033-chr9:116026530..116028582,2	K562	blood:
27	chr9:116014996..116017587-chr9:116018102..116020800,2	K562	blood:
28	chr9:115988089..115990143-chr9:115997118..115999123,2	MCF-7	breast:
29	chr9:115982005..115986983-chr9:116035777..116039702,5	K562	blood:
30	chr9:115983488..115985496-chr9:116035418..116038927,3	MCF-7	breast:
31	chr9:115985715..115987380-chr9:116017322..116019580,2	K562	blood:
32	chr9:116016494..116018131-chr9:116019825..116021408,2	K562	blood:
33	chr9:115995999..115998465-chr9:116001136..116003648,2	K562	blood:
34	chr9:115995531..115997450-chr9:115998162..116001080,2	MCF-7	breast:
35	chr9:115981852..115985156-chr9:116171660..116173942,3	MCF-7	breast:
36	chr9:116016365..116018792-chr9:116102521..116104428,2	MCF-7	breast:
37	chr9:115982366..115985193-chr9:115997022..116000102,3	MCF-7	breast:
38	chr9:115996965..115999527-chr9:116002148..116004164,2	K562	blood:
39	chr9:115982263..115984734-chr9:116036359..116038354,4	MCF-7	breast:
40	chr9:115996965..115999527-chr9:116002148..116004164,2	K562	blood:
41	chr9:115995999..115998465-chr9:116001136..116003648,2	K562	blood:
42	chr9:115995531..115997450-chr9:115998162..116001080,2	MCF-7	breast:
43	chr9:115990891..115993253-chr9:115993931..115999009,4	K562	blood:
44	chr9:115993143..115995233-chr9:116002735..116005457,2	K562	blood:
45	chr9:115991545..115993932-chr9:115995693..115997298,2	K562	blood:
46	chr9:115999423..116002068-chr9:116006233..116008819,2	K562	blood:
47	chr9:116021697..116024612-chr9:116025730..116027476,2	MCF-7	breast:
48	chr9:115968725..115971196-chr9:115981878..115984279,2	MCF-7	breast:
49	chr9:115988910..115990516-chr9:115992954..115994537,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC31A1-1	chr9:115989558-115989940	NONHSAT134329
2	lnc-SLC31A1-1	chr9:115983867-115983958	NONHSAT134329
3	lnc-SLC31A1-1	chr9:115983808-115983958	NONHSAT134328

No data

Variant related genes	Relation type
FKBP15	TF binding region
SLC31A1	TF binding region
FKBP15	CpG island
SLC31A1	CpG island
ENSG00000136875	chromatin interactions
ENSG00000157653	chromatin interactions
ENSG00000136868	chromatin interactions
ENSG00000167797	chromatin interactions
ENSG00000176386	chromatin interactions
ENSG00000148229	chromatin interactions
ENSG00000119321	chromatin interactions
ENSG00000139546	chromatin interactions
ENSG00000270175	chromatin interactions
ENSG00000148225	chromatin interactions

Extended variants
information (count: 1286 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1286 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2233914	chr9:115983540-115983541	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544968932	chr9:115983635-115983636	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs564937607	chr9:115983638-115983639	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs530387098	chr9:115983650-115983651	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs60968056	chr9:115983660-115983661	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs560624236	chr9:115983666-115983667	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs573766698	chr9:115983671-115983672	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs60326103	chr9:115983760-115983761	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs60217350	chr9:115983793-115983794	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs566932233	chr9:115983851-115983852	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
11	rs541190786	chr9:115983870-115983871	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
12	rs541115012	chr9:115983871-115983872	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
13	rs41280219	chr9:115983900-115983901	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
14	rs148009913	chr9:115983950-115983951	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
15	rs186968371	chr9:115983954-115983955	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
16	rs41280221	chr9:115983990-115983991	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs189925960	chr9:115984008-115984009	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs538213950	chr9:115984030-115984031	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs555116153	chr9:115984035-115984036	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs575018180	chr9:115984050-115984051	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs559413332	chr9:115984052-115984053	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs140751180	chr9:115984093-115984094	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs145818823	chr9:115984154-115984155	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs117553669	chr9:115984171-115984172	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs545299218	chr9:115984184-115984185	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs564988698	chr9:115984289-115984290	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs138384622	chr9:115984292-115984293	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs543771425	chr9:115984316-115984317	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs182563580	chr9:115984367-115984368	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs560531284	chr9:115984415-115984416	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs7850029	chr9:115984428-115984429	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539949720	chr9:115984437-115984438	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs184950458	chr9:115984507-115984508	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs376564477	chr9:115984518-115984519	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs35332838	chr9:115984534-115984535	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs569536780	chr9:115984546-115984547	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs532025327	chr9:115984581-115984582	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs7850357	chr9:115984599-115984600	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs189806876	chr9:115984657-115984658	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs200427386	chr9:115984716-115984717	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs560856242	chr9:115984717-115984718	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs377526456	chr9:115984772-115984773	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs566664330	chr9:115984858-115984859	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs538429941	chr9:115984917-115984918	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs558445642	chr9:115984930-115984931	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs59987461	chr9:115984931-115984932	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544080133	chr9:115984951-115984952	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs529492598	chr9:115984971-115984972	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs118147204	chr9:115985026-115985027	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs77361187	chr9:115985037-115985038	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1094 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115981200-115985600	Active TSS	GM12878-XiMat	blood
2	chr9:115982000-115984800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr9:115982000-115985000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr9:115982000-115985000	Active TSS	Aorta	Aorta
5	chr9:115982200-115985000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:115982200-115985200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:115982200-115985400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr9:115982200-115985600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:115982400-115984400	Active TSS	Fetal Muscle Trunk	muscle
10	chr9:115982400-115984400	Active TSS	Left Ventricle	heart
11	chr9:115982400-115984600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr9:115982400-115984600	Active TSS	NHDF-Ad	bronchial
13	chr9:115982400-115984800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr9:115982400-115985000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr9:115982400-115985200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:115982400-115985400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr9:115982400-115985400	Active TSS	HSMMtube	muscle
18	chr9:115982600-115984000	Active TSS	Thymus	Thymus
19	chr9:115982600-115984400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:115982600-115984400	Active TSS	K562	blood
21	chr9:115982600-115984600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr9:115982600-115984600	Active TSS	Esophagus	oesophagus
23	chr9:115982600-115984600	Active TSS	Ovary	ovary
24	chr9:115982600-115984600	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr9:115982600-115984800	Active TSS	Psoas Muscle	Psoas
26	chr9:115982600-115984800	Active TSS	A549	lung
27	chr9:115982600-115984800	Active TSS	NHLF	lung
28	chr9:115982600-115985000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:115982600-115985600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:115982800-115984000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr9:115982800-115984200	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr9:115982800-115984200	Active TSS	Spleen	Spleen
33	chr9:115982800-115984200	Active TSS	Dnd41	blood
34	chr9:115982800-115984400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr9:115982800-115984400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:115982800-115984400	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr9:115982800-115984400	Active TSS	Gastric	stomach
38	chr9:115982800-115984400	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr9:115982800-115984400	Active TSS	HSMM	muscle
40	chr9:115982800-115984600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:115982800-115984600	Active TSS	Small Intestine	intestine
42	chr9:115982800-115984600	Active TSS	HMEC	breast
43	chr9:115982800-115984800	Active TSS	Fetal Intestine Large	intestine
44	chr9:115982800-115984800	Active TSS	Fetal Intestine Small	intestine
45	chr9:115982800-115985000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr9:115982800-115985000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:115982800-115985200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:115982800-115985200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:115982800-115985200	Active TSS	Lung	lung
50	chr9:115982800-115985200	Bivalent/Poised TSS	HepG2	liver

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