Variant report

Variant	nsv524894
Chromosome Location	chr9:98637430-98640244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:760)
CpG islands
(count:428)
Chromatin interactive
region (count:32)
LncRNA
region (count:12)
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	chr9:98638723-98639221	HepG2	liver:	n/a	n/a
2	ATF1	chr9:98637308-98638493	K562	blood:	n/a	n/a
3	ATF1	chr9:98638947-98639306	K562	blood:	n/a	n/a
4	ATF2	chr9:98637525-98638539	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr9:98637418-98638460	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr9:98637199-98638494	GM12878	blood:	n/a	n/a
7	ATF2	chr9:98637554-98638668	GM12878	blood:	n/a	n/a
8	ATF3	chr9:98637744-98638589	A549	lung:	n/a	n/a
9	ATF3	chr9:98637628-98638564	A549	lung:	n/a	n/a
10	BACH1	chr9:98637726-98638563	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr9:98638169-98638509	GM12878	blood:	n/a	n/a
12	BCL3	chr9:98637587-98638543	GM12878	blood:	n/a	chr9:98638264-98638273
13	BCL3	chr9:98637283-98638657	A549	lung:	n/a	chr9:98638264-98638273
14	BCL3	chr9:98637518-98638673	A549	lung:	n/a	chr9:98638264-98638273
15	BCLAF1	chr9:98637210-98638648	GM12878	blood:	n/a	chr9:98638264-98638273
16	BCLAF1	chr9:98637955-98638600	K562	blood:	n/a	chr9:98638264-98638273
17	BCLAF1	chr9:98637955-98638595	K562	blood:	n/a	chr9:98638264-98638273
18	BCLAF1	chr9:98636979-98638715	GM12878	blood:	n/a	chr9:98638264-98638273
19	BHLHE40	chr9:98637600-98638498	HepG2	liver:	n/a	n/a
20	BHLHE40	chr9:98637053-98638542	GM12878	blood:	n/a	n/a
21	BRCA1	chr9:98637508-98638520	GM12878	blood:	n/a	n/a
22	BRCA1	chr9:98637490-98638431	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr9:98638961-98639207	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr9:98637562-98638454	HepG2	liver:	n/a	n/a
25	BRCA1	chr9:98637220-98638734	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr9:98637515-98638697	K562	blood:	n/a	n/a
27	CBX3	chr9:98637594-98638529	K562	blood:	n/a	n/a
28	CCNT2	chr9:98637215-98638651	K562	blood:	n/a	n/a
29	CEBPB	chr9:98637248-98638552	GM12878	blood:	n/a	n/a
30	CEBPB	chr9:98637619-98638532	K562	blood:	n/a	n/a
31	CEBPB	chr9:98637380-98638132	A549	lung:	n/a	n/a
32	CEBPB	chr9:98638183-98638361	HepG2	liver:	n/a	n/a
33	CEBPB	chr9:98638158-98638461	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr9:98637562-98638592	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr9:98637689-98637930	GM12878	blood:	n/a	n/a
36	CEBPD	chr9:98637446-98638471	HepG2	liver:	n/a	n/a
37	CEBPD	chr9:98638136-98638448	HepG2	liver:	n/a	n/a
38	CEBPD	chr9:98637569-98638663	K562	blood:	n/a	n/a
39	CHD1	chr9:98637262-98639223	GM12878	blood:	n/a	n/a
40	CHD1	chr9:98637015-98638454	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr9:98637046-98638504	K562	blood:	n/a	n/a
42	CHD2	chr9:98637019-98638654	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr9:98637140-98638535	HepG2	liver:	n/a	n/a
44	CHD2	chr9:98637389-98638595	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr9:98637113-98638698	GM12878	blood:	n/a	n/a
46	CREB1	chr9:98637151-98638640	HepG2	liver:	n/a	n/a
47	CREB1	chr9:98637056-98638831	GM12878	blood:	n/a	n/a
48	CREB1	chr9:98637632-98638686	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr9:98637686-98638587	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr9:98637559-98638606	K562	blood:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:98637454-98637504	MCF10A-Er-Src	breast:	n/a
2	chr9:98637454-98637504	MCF10A-Er-Src	breast:	n/a
3	chr9:98638211-98638261	NH-A	brain:	n/a
4	chr9:98637454-98637504	AG09309	skin:	n/a
5	chr9:98637534-98637584	RPTEC	kidney:	n/a
6	chr9:98639872-98639922	HAEpiC	amniotic membrane:	n/a
7	chr9:98638211-98638261	LNCaP	prostate:	n/a
8	chr9:98637534-98637584	ovcar-3	ovarian:	n/a
9	chr9:98639872-98639922	PFSK-1	brain:	n/a
10	chr9:98637534-98637584	HRPEpiC	eye:	n/a
11	chr9:98637884-98637934	A549	lung:	n/a
12	chr9:98638444-98638494	CMK	blood:	n/a
13	chr9:98638444-98638494	HRPEpiC	eye:	n/a
14	chr9:98637534-98637584	HCPEpiC	choroid plexus:	n/a
15	chr9:98639872-98639922	HCT-116	colon:	n/a
16	chr9:98639872-98639922	GM12878	blood:	n/a
17	chr9:98637454-98637504	PANC-1	pancreas:	n/a
18	chr9:98637454-98637504	Hela-S3	cervix:	n/a
19	chr9:98637454-98637504	PrEC	prostate:	n/a
20	chr9:98638444-98638494	MCF10A-Er-Src	breast:	n/a
21	chr9:98638211-98638261	ovcar-3	ovarian:	n/a
22	chr9:98637794-98637844	HRE	kidney:	n/a
23	chr9:98637794-98637844	HCPEpiC	choroid plexus:	n/a
24	chr9:98638444-98638494	GM12892	blood:	n/a
25	chr9:98637454-98637504	MCF-7	breast:	n/a
26	chr9:98637794-98637844	AG04449	skin:	fetal
27	chr9:98638444-98638494	K562	blood:	n/a
28	chr9:98638211-98638261	RPTEC	kidney:	n/a
29	chr9:98637534-98637584	H1-hESC	embryonic stem cell:	embryo
30	chr9:98637884-98637934	HEEpiC	esophagus:	n/a
31	chr9:98637794-98637844	AoSMC	blood vessel:	n/a
32	chr9:98638444-98638494	HMEC	breast:	n/a
33	chr9:98637534-98637584	Jurkat	blood:	n/a
34	chr9:98637884-98637934	HPAEpiC	pulmonary alveolar:	n/a
35	chr9:98638211-98638261	AG09309	skin:	n/a
36	chr9:98638211-98638261	HRPEpiC	eye:	n/a
37	chr9:98637534-98637584	GM12892	blood:	n/a
38	chr9:98639872-98639922	HMEC	breast:	n/a
39	chr9:98637454-98637504	LNCaP	prostate:	n/a
40	chr9:98638444-98638494	NT2-D1	testis:	n/a
41	chr9:98638444-98638494	HIPEpiC	eye:	n/a
42	chr9:98637884-98637934	SK-N-SH_RA	brain:	n/a
43	chr9:98637794-98637844	GM12878	blood:	n/a
44	chr9:98637794-98637844	SK-N-MC	brain:	n/a
45	chr9:98639872-98639922	HL-60	blood:	n/a
46	chr9:98637884-98637934	H1-hESC	embryonic stem cell:	embryo
47	chr9:98638211-98638261	HCT-116	colon:	n/a
48	chr9:98637454-98637504	HRPEpiC	eye:	n/a
49	chr9:98638444-98638494	HCF	heart:	n/a
50	chr9:98637454-98637504	GM19239	blood:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:98637678..98640109-chr9:98685155..98688009,2	K562	blood:
2	chr9:98534328..98536116-chr9:98636365..98638226,2	MCF-7	breast:
3	chr9:98188670..98189479-chr9:98637800..98638512,2	Hela-S3	cervix:
4	chr7:30518092..30518790-chr9:98637529..98638155,2	MCF-7	breast:
5	chr9:98276862..98280186-chr9:98636651..98639407,3	K562	blood:
6	chr9:98277796..98280674-chr9:98636940..98639822,3	K562	blood:
7	chr9:98638841..98641088-chr9:98696754..98699064,2	K562	blood:
8	chr9:98187335..98191305-chr9:98637767..98639481,3	MCF-7	breast:
9	chr1:67896089..67896845-chr9:98637353..98638274,2	Hela-S3	cervix:
10	chr9:98636137..98638134-chr9:98783030..98785648,2	K562	blood:
11	chr9:98614433..98624477-chr9:98629889..98639636,23	MCF-7	breast:
12	chr1:155657851..155658412-chr9:98637639..98638211,2	Hela-S3	cervix:
13	chr9:98637191..98639517-chr9:98666345..98668961,2	MCF-7	breast:
14	chr20:60877800..60878543-chr9:98637869..98638479,2	Hela-S3	cervix:
15	chr11:95522805..95523701-chr9:98637980..98638836,2	Hela-S3	cervix:
16	chr5:131629322..131630937-chr9:98636920..98639534,2	MCF-7	breast:
17	chr17:56736371..56738298-chr9:98637681..98639486,2	MCF-7	breast:
18	chr9:98270649..98275167-chr9:98636318..98639773,5	MCF-7	breast:
19	chr4:87855994..87856653-chr9:98638123..98638697,2	Hela-S3	cervix:
20	chr9:98188917..98190953-chr9:98637709..98639661,2	MCF-7	breast:
21	chr6:26056066..26056962-chr9:98637905..98638564,2	Hela-S3	cervix:
22	chr15:80216050..80216786-chr9:98637738..98638421,2	Hela-S3	cervix:
23	chr9:98636162..98639165-chr9:98683503..98686735,3	MCF-7	breast:
24	chr9:98636376..98639087-chr9:98667887..98670748,3	MCF-7	breast:
25	chr9:98078160..98080305-chr9:98637483..98639375,2	MCF-7	breast:
26	chr17:45973460..45974207-chr9:98637821..98638786,2	NB4	blood:
27	chr9:98637661..98638446-chrX:118602263..118602952,2	Hela-S3	cervix:
28	chr15:52121718..52122280-chr9:98639010..98639775,2	Hela-S3	cervix:
29	chr12:51441588..51442538-chr9:98637901..98638401,2	Hela-S3	cervix:
30	chr9:98637084..98640693-chr9:98667295..98670393,4	K562	blood:
31	chr9:98636642..98639611-chr9:98680367..98683270,2	K562	blood:
32	chr6:10415020..10415709-chr9:98637686..98638605,2	Hela-S3	cervix:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTCH1-3	chr9:98638147-98638259	NONHSAT133392
2	lnc-PTCH1-3	chr9:98637279-98637436	NONHSAT133404
3	lnc-PTCH1-3	chr9:98637262-98637762	ENSG00000175611
4	lnc-PTCH1-3	chr9:98637508-98638366	NONHSAT133404
5	lnc-PTCH1-3	chr9:98637262-98638259	NONHSAT133402
6	lnc-PTCH1-3	chr9:98637262-98637762	ENSG00000175611.7
7	lnc-PTCH1-3	chr9:98637262-98637465	NONHSAT133390
8	lnc-PTCH1-3	chr9:98637262-98637552	ENSG00000175611
9	lnc-PTCH1-3	chr9:98637262-98638258	ENSG00000175611
10	lnc-PTCH1-3	chr9:98637262-98637869	ENSG00000175611
11	lnc-PTCH1-3	chr9:98638147-98638259	ENSG00000175611
12	lnc-PTCH1-3	chr9:98637262-98638394	NONHSAT133403

No data

Variant related genes	Relation type
ERCC6L2	TF binding region
LINC00476	TF binding region
ERCC6L2	CpG island
LINC00476	CpG island
ENSG00000106100	chromatin interactions
ENSG00000138594	chromatin interactions
ENSG00000172493	chromatin interactions
ENSG00000142864	chromatin interactions
ENSG00000182150	chromatin interactions
ENSG00000197208	chromatin interactions
ENSG00000199202	chromatin interactions
ENSG00000163633	chromatin interactions
ENSG00000166037	chromatin interactions
ENSG00000268926	chromatin interactions
ENSG00000167182	chromatin interactions
ENSG00000163374	chromatin interactions
ENSG00000237857	chromatin interactions
ENSG00000077458	chromatin interactions
ENSG00000005022	chromatin interactions
ENSG00000158169	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000259332	chromatin interactions
ENSG00000237631	chromatin interactions
ENSG00000185920	chromatin interactions
ENSG00000225194	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000252847	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000130706	chromatin interactions
ENSG00000137203	chromatin interactions
MAPK9	miRNA target sites
ZNF828	miRNA target sites
ZNF567	miRNA target sites
SLC6A9	miRNA target sites
SEPT6	miRNA target sites

Extended variants
information (count: 124 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12001	chr9:98637430-98637431	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117124877	chr9:98637490-98637491	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
3	rs34351182	chr9:98637549-98637550	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
4	rs573978687	chr9:98637569-98637570	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
5	rs573280416	chr9:98637586-98637587	Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
6	rs370786299	chr9:98637622-98637623	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
7	rs184840051	chr9:98637704-98637705	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
8	rs556478971	chr9:98637713-98637714	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
9	rs41312222	chr9:98637727-98637728	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
10	rs545197785	chr9:98637765-98637766	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
11	rs560283148	chr9:98637772-98637773	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
12	rs572119137	chr9:98637785-98637786	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
13	rs541822404	chr9:98637788-98637789	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
14	rs371271704	chr9:98637795-98637796	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
15	rs189568266	chr9:98637804-98637805	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
16	rs144428218	chr9:98637815-98637816	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
17	rs531250931	chr9:98637816-98637817	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
18	rs139461145	chr9:98637842-98637843	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
19	rs144055806	chr9:98637844-98637845	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
20	rs180745833	chr9:98637882-98637883	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
21	rs547628658	chr9:98637886-98637887	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
22	rs565916512	chr9:98637903-98637904	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
23	rs186000728	chr9:98637922-98637923	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
24	rs566838959	chr9:98637940-98637941	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
25	rs549255663	chr9:98637961-98637962	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
26	rs147324037	chr9:98637963-98637964	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
27	rs112083815	chr9:98637978-98637979	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
28	rs556090880	chr9:98637987-98637988	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
29	rs202197538	chr9:98637992-98637993	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
30	rs571626595	chr9:98637996-98637997	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
31	rs538908965	chr9:98637998-98637999	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
32	rs199917784	chr9:98638020-98638021	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
33	rs554024718	chr9:98638046-98638047	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
34	rs572600144	chr9:98638050-98638051	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
35	rs543198988	chr9:98638059-98638060	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
36	rs554379679	chr9:98638095-98638096	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
37	rs576041730	chr9:98638101-98638102	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
38	rs191249511	chr9:98638134-98638135	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
39	rs373338065	chr9:98638141-98638142	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
40	rs112412135	chr9:98638204-98638205	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
41	rs532130675	chr9:98638238-98638239	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
42	rs141071823	chr9:98638242-98638243	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
43	rs75475951	chr9:98638256-98638257	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
44	rs548324740	chr9:98638274-98638275	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
45	rs690528	chr9:98638288-98638289	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs10986795	chr9:98638289-98638290	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
47	rs56108623	chr9:98638306-98638307	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs202222262	chr9:98638308-98638309	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
49	rs201393222	chr9:98638309-98638310	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
50	rs371970239	chr9:98638312-98638313	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98636400-98639200	Active TSS	NHLF	lung
2	chr9:98636400-98639600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr9:98636400-98639600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:98636400-98639800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr9:98636600-98637600	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr9:98636600-98637600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr9:98636600-98637800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr9:98636600-98638800	ZNF genes & repeats	Fetal Brain Male	brain
9	chr9:98636600-98639400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr9:98636600-98639800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:98636600-98639800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:98636600-98640000	Active TSS	A549	lung
13	chr9:98636800-98637600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr9:98636800-98637600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr9:98636800-98638800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:98636800-98639000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:98636800-98639000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:98636800-98639000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:98636800-98639200	Active TSS	Aorta	Aorta
20	chr9:98636800-98639400	Active TSS	Ovary	ovary
21	chr9:98636800-98639400	Active TSS	Right Ventricle	heart
22	chr9:98637000-98638800	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr9:98637000-98638800	Active TSS	Gastric	stomach
24	chr9:98637000-98638800	Active TSS	Lung	lung
25	chr9:98637000-98638800	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr9:98637000-98638800	Active TSS	Small Intestine	intestine
27	chr9:98637000-98639000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr9:98637000-98639000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr9:98637000-98639000	Active TSS	Thymus	Thymus
30	chr9:98637000-98639200	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr9:98637000-98639200	Active TSS	GM12878-XiMat	blood
32	chr9:98637000-98639400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:98637000-98639400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:98637000-98639400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:98637000-98639400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr9:98637000-98639400	Active TSS	Fetal Muscle Trunk	muscle
37	chr9:98637000-98639400	Active TSS	NHDF-Ad	bronchial
38	chr9:98637000-98639600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr9:98637000-98639800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr9:98637000-98639800	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr9:98637000-98640400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:98637200-98637600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr9:98637200-98637600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr9:98637200-98637600	Active TSS	Right Atrium	heart
45	chr9:98637200-98638600	Active TSS	Primary hematopoietic stem cells	blood
46	chr9:98637200-98638600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr9:98637200-98638600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:98637200-98638600	Active TSS	Brain Angular Gyrus	brain
49	chr9:98637200-98638600	Active TSS	Colon Smooth Muscle	Colon
50	chr9:98637200-98638600	Active TSS	Spleen	Spleen

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