Variant report

Variant	nsv824982
Chromosome Location	chr9:95895045-95897753
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:545)
CpG islands
(count:489)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:95895783-95896124	HepG2	liver:	n/a	n/a
2	ATF1	chr9:95895788-95896131	K562	blood:	n/a	chr9:95895949-95895963
3	ATF2	chr9:95896611-95897183	GM12878	blood:	n/a	n/a
4	ATF2	chr9:95895642-95896156	GM12878	blood:	n/a	chr9:95895951-95895962 chr9:95895949-95895963
5	ATF2	chr9:95895694-95896166	GM12878	blood:	n/a	chr9:95895951-95895962 chr9:95895949-95895963
6	ATF2	chr9:95896652-95897067	GM12878	blood:	n/a	n/a
7	ATF3	chr9:95895787-95896077	HepG2	liver:	n/a	chr9:95895949-95895964 chr9:95895952-95895963 chr9:95895947-95895961 chr9:95895952-95895960 chr9:95895951-95895962 chr9:95895941-95895961 chr9:95895949-95895960 chr9:95895951-95895962
8	ATF3	chr9:95895816-95896154	K562	blood:	n/a	chr9:95895949-95895964 chr9:95895952-95895963 chr9:95895947-95895961 chr9:95895952-95895960 chr9:95895951-95895962 chr9:95895941-95895961 chr9:95895949-95895960 chr9:95895951-95895962
9	BACH1	chr9:95896706-95897171	H1-hESC	embryonic stem cell:	n/a	chr9:95897128-95897142
10	BACH1	chr9:95895595-95896267	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr9:95895742-95896038	GM12878	blood:	n/a	n/a
12	BATF	chr9:95896733-95897095	GM12878	blood:	n/a	n/a
13	BATF	chr9:95895820-95895986	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:95895713-95896149	GM12878	blood:	n/a	n/a
15	BCL11A	chr9:95896669-95897156	GM12878	blood:	n/a	chr9:95896992-95897001 chr9:95896951-95896959
16	BCL3	chr9:95896597-95897170	GM12878	blood:	n/a	chr9:95896992-95897001 chr9:95896951-95896959
17	BCLAF1	chr9:95896240-95897045	GM12878	blood:	n/a	chr9:95896992-95897001 chr9:95896951-95896959 chr9:95896357-95896370
18	BCLAF1	chr9:95895568-95896181	GM12878	blood:	n/a	n/a
19	BCLAF1	chr9:95896634-95897246	GM12878	blood:	n/a	chr9:95896992-95897001 chr9:95896951-95896959
20	BHLHE40	chr9:95895740-95896123	K562	blood:	n/a	n/a
21	BHLHE40	chr9:95896365-95896841	K562	blood:	n/a	n/a
22	BHLHE40	chr9:95895704-95897263	GM12878	blood:	n/a	n/a
23	BRCA1	chr9:95895751-95896148	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr9:95897001-95897056	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr9:95895673-95896417	HepG2	liver:	n/a	n/a
26	CBX3	chr9:95895791-95896069	K562	blood:	n/a	n/a
27	CCNT2	chr9:95895743-95897185	K562	blood:	n/a	chr9:95896180-95896189 chr9:95896692-95896701 chr9:95897096-95897105
28	CEBPB	chr9:95895604-95896163	IMR90	lung:	n/a	n/a
29	CEBPB	chr9:95895775-95896126	K562	blood:	n/a	n/a
30	CEBPB	chr9:95895770-95896127	K562	blood:	n/a	n/a
31	CEBPB	chr9:95895173-95896204	MCF-7	breast:	n/a	n/a
32	CEBPB	chr9:95895856-95896059	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr9:95896611-95897178	GM12878	blood:	n/a	n/a
34	CEBPB	chr9:95897032-95897107	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr9:95895873-95896094	HepG2	liver:	n/a	n/a
36	CEBPB	chr9:95896824-95897172	IMR90	lung:	n/a	n/a
37	CEBPB	chr9:95895517-95897042	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr9:95895649-95896130	HepG2	liver:	n/a	n/a
39	CEBPB	chr9:95895686-95896089	HepG2	liver:	n/a	n/a
40	CEBPB	chr9:95895680-95896154	HepG2	liver:	n/a	n/a
41	CEBPB	chr9:95895782-95896020	K562	blood:	n/a	n/a
42	CEBPB	chr9:95895793-95896126	A549	lung:	n/a	n/a
43	CEBPD	chr9:95895700-95896936	HepG2	liver:	n/a	n/a
44	CEBPD	chr9:95895871-95896139	HepG2	liver:	n/a	n/a
45	CHD1	chr9:95896800-95896982	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr9:95894059-95897564	IMR90	lung:	n/a	n/a
47	CHD1	chr9:95895968-95896453	GM12878	blood:	n/a	n/a
48	CHD2	chr9:95895575-95896397	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr9:95895497-95897459	GM12878	blood:	n/a	n/a
50	CHD2	chr9:95895440-95896683	HepG2	liver:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:95896872-95896922	PFSK-1	brain:	n/a
2	chr9:95896872-95896922	PFSK-1	brain:	n/a
3	chr9:95897015-95897065	BE2_C	brain:	n/a
4	chr9:95897313-95897363	HCM	heart:	n/a
5	chr9:95896008-95896058	HEEpiC	esophagus:	n/a
6	chr9:95896749-95896799	Jurkat	blood:	n/a
7	chr9:95897015-95897065	Caco-2	colon:	n/a
8	chr9:95896008-95896058	AoSMC	blood vessel:	n/a
9	chr9:95896880-95896930	ProgFib	skin:	n/a
10	chr9:95896880-95896930	HepG2	liver:	n/a
11	chr9:95897313-95897363	AG10803	skin:	n/a
12	chr9:95896008-95896058	IMR90	lung:	fetal
13	chr9:95896008-95896058	BE2_C	brain:	n/a
14	chr9:95896880-95896930	AG04450	lung:	fetal
15	chr9:95896880-95896930	AoSMC	blood vessel:	n/a
16	chr9:95897313-95897363	BJ	skin:	n/a
17	chr9:95896008-95896058	SK-N-SH	brain:	n/a
18	chr9:95895956-95896006	AoSMC	blood vessel:	n/a
19	chr9:95896872-95896922	Jurkat	blood:	n/a
20	chr9:95896008-95896058	HEK293	kidney:	embryo
21	chr9:95896008-95896058	A549	lung:	n/a
22	chr9:95897216-95897266	LNCaP	prostate:	n/a
23	chr9:95897216-95897266	ProgFib	skin:	n/a
24	chr9:95896749-95896799	PrEC	prostate:	n/a
25	chr9:95896749-95896799	AG09319	gingival:	n/a
26	chr9:95895956-95896006	PrEC	prostate:	n/a
27	chr9:95897015-95897065	AG04450	lung:	fetal
28	chr9:95896749-95896799	HCPEpiC	choroid plexus:	n/a
29	chr9:95897015-95897065	HMEC	breast:	n/a
30	chr9:95896008-95896058	Hepatocyte	liver:	n/a
31	chr9:95896880-95896930	CMK	blood:	n/a
32	chr9:95896872-95896922	Hepatocyte	liver:	n/a
33	chr9:95897015-95897065	HepG2	liver:	n/a
34	chr9:95896008-95896058	ECC-1	luminal epithelium:	n/a
35	chr9:95897313-95897363	NT2-D1	testis:	n/a
36	chr9:95896749-95896799	HIPEpiC	eye:	n/a
37	chr9:95897216-95897266	HRPEpiC	eye:	n/a
38	chr9:95895956-95896006	HPAEpiC	pulmonary alveolar:	n/a
39	chr9:95897216-95897266	HepG2	liver:	n/a
40	chr9:95895956-95896006	Jurkat	blood:	n/a
41	chr9:95897216-95897266	GM12892	blood:	n/a
42	chr9:95897313-95897363	K562	blood:	n/a
43	chr9:95895956-95896006	HRPEpiC	eye:	n/a
44	chr9:95896872-95896922	NB4	blood:	n/a
45	chr9:95896872-95896922	SKMC	muscle:	n/a
46	chr9:95897216-95897266	SK-N-MC	brain:	n/a
47	chr9:95896880-95896930	HIPEpiC	eye:	n/a
48	chr9:95897313-95897363	AG09309	skin:	n/a
49	chr9:95897216-95897266	AG09319	gingival:	n/a
50	chr9:95897313-95897363	HCT-116	colon:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:96874474..96876437-chr9:95895214..95896846,2	MCF-7	breast:
2	chr9:95895042..95899051-chr9:95945154..95949540,5	MCF-7	breast:
3	chr9:95870960..95873239-chr9:95894940..95897821,4	MCF-7	breast:
4	chr9:95893411..95895771-chr9:96236357..96238197,2	MCF-7	breast:
5	chr9:95893768..95895658-chr9:95897377..95900133,3	K562	blood:
6	chr9:95871458..95873101-chr9:95893633..95895517,2	K562	blood:
7	chr9:95894917..95896473-chr9:96212218..96213888,2	MCF-7	breast:
8	chr9:95897165..95898764-chr9:95898859..95901008,2	K562	blood:
9	chr9:95818120..95822805-chr9:95894646..95898384,4	K562	blood:
10	chr9:95896653..95898441-chr9:96214001..96215918,2	K562	blood:
11	chr9:95895534..95897628-chr9:96214404..96216660,2	MCF-7	breast:
12	chr9:95894803..95898160-chr9:96337820..96340366,3	MCF-7	breast:
13	chr9:95525332..95528852-chr9:95893539..95896445,3	MCF-7	breast:
14	chr9:95893830..95897202-chr9:96212872..96217148,4	MCF-7	breast:
15	chr9:95855662..95862507-chr9:95894736..95899302,16	MCF-7	breast:
16	chr9:95881490..95886849-chr9:95891631..95895235,6	K562	blood:
17	chr9:95895154..95898000-chr9:96338001..96340609,3	MCF-7	breast:
18	chr3:67704924..67705468-chr9:95896136..95896742,2	NB4	blood:
19	chr9:95819594..95823966-chr9:95894549..95897415,5	MCF-7	breast:
20	chr9:95763574..95766256-chr9:95893886..95895628,2	MCF-7	breast:
21	chr9:95733025..95737240-chr9:95894074..95898257,5	MCF-7	breast:
22	chr9:95894765..95898074-chr9:96066261..96068998,4	MCF-7	breast:
23	chr9:95856253..95862485-chr9:95892353..95899486,12	MCF-7	breast:
24	chr9:95892565..95895144-chr9:96051454..96053767,2	MCF-7	breast:
25	chr9:95893768..95895658-chr9:95897377..95900133,3	K562	blood:
26	chr9:95895341..95897817-chr9:99179220..99181040,2	MCF-7	breast:
27	chr9:95895047..95897771-chr9:96069097..96071737,2	MCF-7	breast:

No data

Variant related genes	Relation type
NINJ1	TF binding region
NINJ1	CpG island
ENSG00000185963	chromatin interactions
ENSG00000157303	chromatin interactions
ENSG00000185551	chromatin interactions
ENSG00000188938	chromatin interactions
ENSG00000241316	chromatin interactions
ENSG00000172340	chromatin interactions
ENSG00000165238	chromatin interactions
ENSG00000223446	chromatin interactions
ENSG00000165244	chromatin interactions
ENSG00000127084	chromatin interactions
ENSG00000197724	chromatin interactions
ENSG00000165233	chromatin interactions
ENSG00000048828	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146376167	chr9:95895061-95895062	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs565017235	chr9:95895062-95895063	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs531975906	chr9:95895083-95895084	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs367993599	chr9:95895128-95895129	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs540615761	chr9:95895140-95895141	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs558885007	chr9:95895268-95895269	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs529644970	chr9:95895280-95895281	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs547855001	chr9:95895284-95895285	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs529553148	chr9:95895323-95895324	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs563414719	chr9:95895326-95895327	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs530999862	chr9:95895345-95895346	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs552767716	chr9:95895387-95895388	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs7043145	chr9:95895411-95895412	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577613703	chr9:95895429-95895430	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs114266207	chr9:95895433-95895434	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs182395095	chr9:95895439-95895440	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs568415392	chr9:95895463-95895464	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs76159698	chr9:95895541-95895542	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs548318244	chr9:95895557-95895558	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs540369940	chr9:95895569-95895570	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs560045463	chr9:95895577-95895578	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs557139378	chr9:95895579-95895580	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs139676885	chr9:95895584-95895585	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs73524733	chr9:95895588-95895589	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186668691	chr9:95895636-95895637	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs191466456	chr9:95895729-95895730	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs540881200	chr9:95895750-95895751	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs10821073	chr9:95895755-95895756	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs10821074	chr9:95895796-95895797	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs201482087	chr9:95895824-95895825	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs10739943	chr9:95895831-95895832	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563217996	chr9:95895886-95895887	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs144530992	chr9:95895895-95895896	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs552482645	chr9:95895950-95895951	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs564659228	chr9:95896007-95896008	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs568205454	chr9:95896080-95896081	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs79379262	chr9:95896081-95896082	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs568784782	chr9:95896083-95896084	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs10821075	chr9:95896099-95896100	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs550980941	chr9:95896141-95896142	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs569242948	chr9:95896149-95896150	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs539882066	chr9:95896192-95896193	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs148719952	chr9:95896196-95896197	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs142249111	chr9:95896197-95896198	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs184314987	chr9:95896200-95896201	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs151247721	chr9:95896238-95896239	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs574422793	chr9:95896241-95896242	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs541460554	chr9:95896252-95896253	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs556954827	chr9:95896262-95896263	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs112613193	chr9:95896330-95896331	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	13 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
Mental retardation	21693067	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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95870000-95895400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:95885000-95895400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:95886800-95895400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr9:95888600-95895200	Enhancers	Left Ventricle	heart
5	chr9:95889200-95895400	Weak transcription	Thymus	Thymus
6	chr9:95889600-95895200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:95889800-95895200	Weak transcription	Fetal Kidney	kidney
8	chr9:95890000-95895600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:95890400-95896600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr9:95890800-95896000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
11	chr9:95891400-95895800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr9:95892400-95895200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr9:95892600-95895200	Enhancers	Fetal Thymus	thymus
14	chr9:95892800-95895800	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr9:95893000-95895200	Enhancers	Fetal Lung	lung
16	chr9:95893000-95896200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr9:95893200-95895400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr9:95893200-95896000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:95893200-95896000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr9:95893200-95896000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr9:95893200-95896000	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr9:95893400-95895200	Enhancers	Gastric	stomach
23	chr9:95893400-95895800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr9:95893600-95895200	Enhancers	Right Ventricle	heart
25	chr9:95893600-95895600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:95893600-95895600	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr9:95893600-95895800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr9:95893800-95895400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:95893800-95895600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr9:95893800-95895600	Enhancers	Small Intestine	intestine
31	chr9:95893800-95896000	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr9:95893800-95896000	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr9:95893800-95896000	Flanking Active TSS	Placenta	Placenta
34	chr9:95893800-95896000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr9:95893800-95896400	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr9:95894000-95895600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr9:95894000-95896000	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr9:95894200-95895200	Enhancers	Dnd41	blood
39	chr9:95894200-95895800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:95894200-95896000	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr9:95894200-95896000	Flanking Active TSS	GM12878-XiMat	blood
42	chr9:95894400-95895400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:95894400-95895800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr9:95894400-95895800	Flanking Active TSS	Liver	Liver
45	chr9:95894400-95895800	Flanking Active TSS	Hela-S3	cervix
46	chr9:95894400-95896000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr9:95894400-95896000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:95894400-95896000	Flanking Active TSS	Colonic Mucosa	Colon
49	chr9:95894400-95896000	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr9:95894600-95895200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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