Variant report

Variant	esv3396612
Chromosome Location	chr9:98269556-98272304
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:740)
CpG islands
(count:427)
Chromatin interactive
region (count:29)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:740 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:98270209-98270230	HepG2	liver:	n/a	n/a
2	ATF2	chr9:98271450-98271859	GM12878	blood:	n/a	n/a
3	ATF2	chr9:98269704-98270383	GM12878	blood:	n/a	n/a
4	BACH1	chr9:98270081-98270443	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr9:98271476-98272015	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr9:98271572-98271803	K562	blood:	n/a	n/a
7	BACH1	chr9:98268628-98269756	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr9:98271432-98271896	GM12878	blood:	n/a	chr9:98271650-98271661
9	BATF	chr9:98271432-98271837	GM12878	blood:	n/a	chr9:98271650-98271661
10	BCL3	chr9:98269476-98270548	A549	lung:	n/a	chr9:98270407-98270416 chr9:98269743-98269756
11	BCL3	chr9:98269453-98270583	A549	lung:	n/a	chr9:98270407-98270416 chr9:98269743-98269756
12	BCLAF1	chr9:98269511-98270500	GM12878	blood:	n/a	chr9:98270407-98270416 chr9:98269743-98269756
13	BHLHE40	chr9:98270814-98270966	K562	blood:	n/a	chr9:98270915-98270931
14	BHLHE40	chr9:98271314-98272060	K562	blood:	n/a	chr9:98271444-98271460 chr9:98271436-98271452 chr9:98271585-98271601
15	BHLHE40	chr9:98270040-98270342	K562	blood:	n/a	n/a
16	BHLHE40	chr9:98269628-98269751	K562	blood:	n/a	n/a
17	BHLHE40	chr9:98267936-98270646	GM12878	blood:	n/a	chr9:98269109-98269125
18	BHLHE40	chr9:98271308-98271958	GM12878	blood:	n/a	chr9:98271444-98271460 chr9:98271436-98271452 chr9:98271585-98271601
19	CBX3	chr9:98270026-98270410	K562	blood:	n/a	n/a
20	CCNT2	chr9:98269535-98271524	K562	blood:	n/a	n/a
21	CEBPB	chr9:98271657-98271906	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr9:98270015-98270079	K562	blood:	n/a	n/a
23	CEBPB	chr9:98269424-98270462	A549	lung:	n/a	chr9:98270007-98270020
24	CEBPB	chr9:98269061-98270479	Hela-S3	cervix:	n/a	chr9:98270007-98270020
25	CEBPB	chr9:98271523-98271916	Hela-S3	cervix:	n/a	chr9:98271631-98271639
26	CEBPD	chr9:98269834-98270200	HepG2	liver:	n/a	n/a
27	CHD1	chr9:98269359-98270459	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr9:98266325-98275163	IMR90	lung:	n/a	chr9:98271086-98271096 chr9:98274530-98274540
29	CHD1	chr9:98267807-98270342	GM12878	blood:	n/a	n/a
30	CHD1	chr9:98270748-98271443	H1-hESC	embryonic stem cell:	n/a	chr9:98271086-98271096
31	CHD1	chr9:98271252-98271461	GM12878	blood:	n/a	n/a
32	CHD2	chr9:98269649-98269703	HepG2	liver:	n/a	n/a
33	CHD2	chr9:98271478-98272248	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr9:98271462-98272171	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr9:98269698-98270414	GM12878	blood:	n/a	n/a
36	CHD2	chr9:98270077-98270092	K562	blood:	n/a	n/a
37	CHD2	chr9:98268229-98270463	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr9:98271518-98271908	GM12878	blood:	n/a	n/a
39	CREB1	chr9:98269937-98270344	A549	lung:	n/a	n/a
40	CREB1	chr9:98271470-98271749	A549	lung:	n/a	n/a
41	CREB1	chr9:98269105-98269794	A549	lung:	n/a	n/a
42	CTBP2	chr9:98271144-98271791	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTBP2	chr9:98268942-98270266	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr9:98270100-98270250	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr9:98268737-98269709	GM12878	blood:	n/a	n/a
46	CTCF	chr9:98270700-98270850	GM12864	blood:	n/a	n/a
47	CTCF	chr9:98269440-98269590	HAc	cerebellar:	n/a	n/a
48	CTCF	chr9:98270040-98270190	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr9:98269500-98269650	AG09319	gingival:	n/a	n/a
50	CTCF	chr9:98270320-98270470	GM06990	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:98270972-98271022	MCF10A-Er-Src	breast:	n/a
2	chr9:98271631-98271681	GM12891	blood:	n/a
3	chr9:98270972-98271022	BE2_C	brain:	n/a
4	chr9:98271957-98272007	HNPCEpiC	eye:	n/a
5	chr9:98271631-98271681	HepG2	liver:	n/a
6	chr9:98270972-98271022	PANC-1	pancreas:	n/a
7	chr9:98270489-98270539	HCF	heart:	n/a
8	chr9:98271631-98271681	AG09319	gingival:	n/a
9	chr9:98271631-98271681	Hela-S3	cervix:	n/a
10	chr9:98271957-98272007	SK-N-MC	brain:	n/a
11	chr9:98271957-98272007	CMK	blood:	n/a
12	chr9:98270489-98270539	HEK293	kidney:	embryo
13	chr9:98269581-98269631	NB4	blood:	n/a
14	chr9:98270489-98270539	CMK	blood:	n/a
15	chr9:98271957-98272007	K562	blood:	n/a
16	chr9:98270489-98270539	AG09319	gingival:	n/a
17	chr9:98270489-98270539	RPTEC	kidney:	n/a
18	chr9:98271957-98272007	PrEC	prostate:	n/a
19	chr9:98269526-98269576	NHBE	bronchial:	n/a
20	chr9:98269526-98269576	GM12878	blood:	n/a
21	chr9:98270972-98271022	AG04450	lung:	fetal
22	chr9:98271631-98271681	ovcar-3	ovarian:	n/a
23	chr9:98271631-98271681	SK-N-MC	brain:	n/a
24	chr9:98271631-98271681	ECC-1	luminal epithelium:	n/a
25	chr9:98269581-98269631	AG09319	gingival:	n/a
26	chr9:98271957-98272007	ECC-1	luminal epithelium:	n/a
27	chr9:98270489-98270539	GM06990	blood:	n/a
28	chr9:98270489-98270539	SK-N-MC	brain:	n/a
29	chr9:98270972-98271022	BJ	skin:	n/a
30	chr9:98270972-98271022	HEEpiC	esophagus:	n/a
31	chr9:98271957-98272007	SK-N-SH_RA	brain:	n/a
32	chr9:98269581-98269631	BJ	skin:	n/a
33	chr9:98269526-98269576	MCF-7	breast:	n/a
34	chr9:98269581-98269631	HUVEC	blood vessel:	n/a
35	chr9:98269581-98269631	H1-hESC	embryonic stem cell:	embryo
36	chr9:98269526-98269576	HNPCEpiC	eye:	n/a
37	chr9:98271957-98272007	AoSMC	blood vessel:	n/a
38	chr9:98270472-98270522	HepG2	liver:	n/a
39	chr9:98271957-98272007	HUVEC	blood vessel:	n/a
40	chr9:98269526-98269576	MCF10A-Er-Src	breast:	n/a
41	chr9:98270472-98270522	HEEpiC	esophagus:	n/a
42	chr9:98270489-98270539	HIPEpiC	eye:	n/a
43	chr9:98271631-98271681	HCF	heart:	n/a
44	chr9:98271957-98272007	SKMC	muscle:	n/a
45	chr9:98271957-98272007	RPTEC	kidney:	n/a
46	chr9:98271957-98272007	T-47D	breast:	n/a
47	chr9:98270489-98270539	HCM	heart:	n/a
48	chr9:98270972-98271022	PFSK-1	brain:	n/a
49	chr9:98271957-98272007	MCF10A-Er-Src	breast:	n/a
50	chr9:98269526-98269576	Hepatocyte	liver:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:98078830..98081414-chr9:98266391..98270806,3	MCF-7	breast:
2	chr9:98272232..98274861-chr9:98331837..98334312,2	MCF-7	breast:
3	chr9:98253772..98257280-chr9:98266534..98270044,4	K562	blood:
4	chr9:98262143..98268122-chr9:98269863..98275996,9	MCF-7	breast:
5	chr9:98187685..98192036-chr9:98266677..98274746,12	MCF-7	breast:
6	chr9:98254778..98257186-chr9:98269292..98272061,2	MCF-7	breast:
7	chr9:98256366..98258410-chr9:98271924..98274612,2	K562	blood:
8	chr9:98184245..98186249-chr9:98271181..98273183,2	K562	blood:
9	chr9:98218003..98222058-chr9:98271885..98274474,3	K562	blood:
10	chr9:98143874..98147656-chr9:98271045..98275159,6	MCF-7	breast:
11	chr9:98253127..98255795-chr9:98271024..98273748,2	K562	blood:
12	chr9:98078136..98081236-chr9:98271605..98275803,7	K562	blood:
13	chr9:98187721..98190114-chr9:98271481..98273732,2	MCF-7	breast:
14	chr9:98268284..98270797-chr9:98272240..98274371,3	MCF-7	breast:
15	chr9:98270649..98275167-chr9:98636318..98639773,5	MCF-7	breast:
16	chr9:98265986..98270733-chr9:98272060..98274665,7	MCF-7	breast:
17	chr9:98078212..98082706-chr9:98271985..98275473,10	K562	blood:
18	chr9:98210232..98214386-chr9:98264282..98269915,4	K562	blood:
19	chr9:98227014..98229023-chr9:98271434..98274318,2	MCF-7	breast:
20	chr9:98271289..98274209-chr9:98357697..98360375,2	MCF-7	breast:
21	chr9:98187278..98190652-chr9:98265637..98273315,6	K562	blood:
22	chr9:98079077..98082863-chr9:98272048..98274634,4	MCF-7	breast:
23	chr9:98187696..98190762-chr9:98268567..98271378,5	MCF-7	breast:
24	chr9:98243853..98250190-chr9:98264163..98273969,14	MCF-7	breast:
25	chr9:98186276..98191956-chr9:98269234..98276633,9	K562	blood:
26	chr9:98271686..98274631-chr9:98635342..98639467,4	MCF-7	breast:
27	chr9:98271476..98273669-chr9:98979149..98980872,2	MCF-7	breast:
28	chr9:98184189..98187188-chr9:98271024..98273730,2	K562	blood:
29	chr9:98078123..98080907-chr9:98268002..98270715,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf102-11	chr9:98268517-98269918	ENSG00000271155.1

No data

Variant related genes	Relation type
PTCH1	TF binding region
ENSG00000271659	TF binding region
PTCH1	CpG island
ENSG00000271659	CpG island
ENSG00000237857	chromatin interactions
ENSG00000185920	chromatin interactions
ENSG00000175611	chromatin interactions
ENSG00000271314	chromatin interactions
ENSG00000271155	chromatin interactions
ENSG00000158169	chromatin interactions
ENSG00000182150	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537587751	chr9:98269572-98269573	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
2	rs1805157	chr9:98269584-98269585	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
3	rs116438693	chr9:98269601-98269602	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
4	rs577214951	chr9:98269648-98269649	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
5	rs148592862	chr9:98269652-98269653	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
6	rs182663119	chr9:98269663-98269664	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs561099799	chr9:98269670-98269671	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
8	rs542043037	chr9:98269715-98269716	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
9	rs563939104	chr9:98269723-98269724	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
10	rs370201922	chr9:98269790-98269791	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
11	rs530498420	chr9:98269823-98269824	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
12	rs545927001	chr9:98269857-98269858	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
13	rs564374068	chr9:98269860-98269861	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
14	rs568235277	chr9:98269861-98269862	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
15	rs186985807	chr9:98269915-98269916	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
16	rs145524052	chr9:98269937-98269938	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs374877257	chr9:98269951-98269952	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs546868820	chr9:98269964-98269965	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs568383821	chr9:98269987-98269988	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs529064280	chr9:98269992-98269993	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs368434162	chr9:98270000-98270001	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs550487899	chr9:98270034-98270035	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs76567043	chr9:98270039-98270040	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs142385523	chr9:98270046-98270047	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs559049468	chr9:98270070-98270071	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs144718118	chr9:98270074-98270075	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs151284979	chr9:98270075-98270076	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs553225388	chr9:98270076-98270077	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs574810677	chr9:98270127-98270128	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs1355620	chr9:98270168-98270169	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1355619	chr9:98270171-98270172	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575832989	chr9:98270174-98270175	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs139956254	chr9:98270187-98270188	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs66770366	chr9:98270188-98270189	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs545537066	chr9:98270199-98270200	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs3035247	chr9:98270201-98270202	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs561896130	chr9:98270211-98270212	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs564211337	chr9:98270218-98270219	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs528063565	chr9:98270243-98270244	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs140439757	chr9:98270269-98270270	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs561701506	chr9:98270288-98270289	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs529182242	chr9:98270298-98270299	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs111243131	chr9:98270315-98270316	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs139100790	chr9:98270317-98270318	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs148507954	chr9:98270321-98270322	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs572423681	chr9:98270323-98270324	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs369915085	chr9:98270324-98270325	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs199727778	chr9:98270340-98270341	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs79663574	chr9:98270342-98270343	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs191458964	chr9:98270362-98270363	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	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
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Pancreatic cancer	17952125	CNVD
Neurodevelopmental disorder	22521361	CNVD
Basal cell carcinoma	21518781	CNVD
Breast cancer	22522925	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	chr9:98265800-98271600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr9:98266400-98271600	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr9:98266600-98275000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr9:98266800-98270000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:98267000-98269800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr9:98267000-98270400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr9:98267000-98274800	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr9:98267200-98273600	Active TSS	Right Atrium	heart
9	chr9:98267200-98274000	Active TSS	Fetal Intestine Large	intestine
10	chr9:98267200-98274200	Active TSS	Left Ventricle	heart
11	chr9:98267200-98274400	Active TSS	Ovary	ovary
12	chr9:98267400-98272000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:98267400-98273800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr9:98267400-98273800	Active TSS	Fetal Intestine Small	intestine
15	chr9:98267400-98273800	Active TSS	Fetal Kidney	kidney
16	chr9:98267400-98273800	Active TSS	Small Intestine	intestine
17	chr9:98267400-98274000	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr9:98267400-98274400	Active TSS	NHDF-Ad	bronchial
19	chr9:98267400-98274600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:98267400-98274800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:98267600-98271800	Active TSS	GM12878-XiMat	blood
22	chr9:98267600-98274000	Active TSS	H1 Cell Line	embryonic stem cell
23	chr9:98267600-98274000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr9:98267600-98274000	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr9:98267600-98274000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:98267600-98274000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:98267600-98274000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:98267600-98274000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:98267600-98274000	Active TSS	Psoas Muscle	Psoas
30	chr9:98267600-98274200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:98267600-98274400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:98267600-98274400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:98267600-98274600	Active TSS	NHLF	lung
34	chr9:98267600-98274800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr9:98267800-98270000	Active TSS	K562	blood
36	chr9:98267800-98270400	Bivalent/Poised TSS	HepG2	liver
37	chr9:98267800-98270600	Active TSS	Fetal Heart	heart
38	chr9:98267800-98271600	Active TSS	Hela-S3	cervix
39	chr9:98267800-98271800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr9:98267800-98272200	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr9:98267800-98273600	Active TSS	Lung	lung
42	chr9:98267800-98273800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:98267800-98273800	Active TSS	Duodenum Mucosa	Duodenum
44	chr9:98267800-98273800	Active TSS	HSMMtube	muscle
45	chr9:98267800-98274000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:98267800-98274000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:98267800-98274000	Active TSS	Placenta Amnion	Placenta Amnion
48	chr9:98267800-98274000	Active TSS	A549	lung
49	chr9:98267800-98274200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr9:98267800-98274200	Active TSS	Aorta	Aorta

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