Variant report

Variant	nsv527980
Chromosome Location	chr9:14345605-14348563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:218)
CpG islands
(count:244)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:218 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr9:14347314-14347654	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr9:14346878-14349315	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr9:14345139-14346635	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr9:14347784-14348090	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr9:14347986-14348180	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr9:14348547-14348760	Hela-S3	cervix:	n/a	n/a
7	CHD1	chr9:14344897-14346945	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr9:14347447-14348076	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr9:14346836-14348140	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr9:14347479-14348294	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr9:14346216-14346460	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr9:14345924-14346720	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr9:14345982-14346724	H1-hESC	embryonic stem cell:	n/a	n/a
14	CREB1	chr9:14347706-14348217	A549	lung:	n/a	n/a
15	CTBP2	chr9:14344929-14346599	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr9:14346816-14350234	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr9:14348080-14348230	HMEC	breast:	n/a	chr9:14348122-14348135
18	CTCF	chr9:14348546-14348617	Lung_OC	lung:	n/a	n/a
19	CTCF	chr9:14348000-14348150	HRPEpiC	eye:	n/a	chr9:14348122-14348135
20	CTCF	chr9:14348060-14348210	HEEpiC	esophagus:	n/a	chr9:14348122-14348135
21	CTCF	chr9:14348080-14348230	HPAF	blood vessel:	n/a	chr9:14348122-14348135
22	CTCF	chr9:14348000-14348150	HPF	lung:	n/a	chr9:14348122-14348135
23	CTCF	chr9:14348080-14348230	HBMEC	blood vessel:	n/a	chr9:14348122-14348135
24	CTCF	chr9:14348040-14348190	HRPEpiC	eye:	n/a	chr9:14348122-14348135
25	CTCF	chr9:14348100-14348250	HCPEpiC	choroid plexus:	n/a	chr9:14348122-14348135
26	CTCF	chr9:14348040-14348190	HPF	lung:	n/a	chr9:14348122-14348135
27	CTCF	chr9:14348060-14348210	HRE	kidney:	n/a	chr9:14348122-14348135
28	CTCF	chr9:14348040-14348190	AG04450	lung:	n/a	chr9:14348122-14348135
29	CTCF	chr9:14347980-14348130	GM12867	blood:	n/a	n/a
30	CTCF	chr9:14348020-14348170	NHLF	lung:	n/a	chr9:14348122-14348135
31	CTCF	chr9:14348060-14348210	GM12869	blood:	n/a	chr9:14348122-14348135
32	CTCF	chr9:14348085-14348206	Pancreas_OC	pancreas:	n/a	chr9:14348122-14348135
33	CTCF	chr9:14348035-14348160	A549	lung:	n/a	chr9:14348122-14348135
34	CTCF	chr9:14348034-14348218	GM19238	blood:	n/a	chr9:14348122-14348135
35	CTCF	chr9:14348079-14348083	Pancreas_OC	pancreas:	n/a	n/a
36	CTCF	chr9:14348080-14348230	RPTEC	kidney:	n/a	chr9:14348122-14348135
37	CTCF	chr9:14348020-14348170	HAc	cerebellar:	n/a	chr9:14348122-14348135
38	CTCF	chr9:14348056-14348196	H1-hESC	embryonic stem cell:	n/a	chr9:14348122-14348135
39	CTCF	chr9:14347960-14348110	GM12866	blood:	n/a	n/a
40	CTCF	chr9:14348080-14348230	HCM	heart:	n/a	chr9:14348122-14348135
41	CTCF	chr9:14348040-14348190	HMEC	breast:	n/a	chr9:14348122-14348135
42	CTCF	chr9:14347900-14348050	RPTEC	kidney:	n/a	n/a
43	CTCF	chr9:14348076-14348145	Medullo	brain:	n/a	chr9:14348122-14348135
44	CTCF	chr9:14348240-14348390	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr9:14348069-14348180	Gliobla	brain:	n/a	chr9:14348122-14348135
46	CTCF	chr9:14348088-14348177	Kidney_OC	kidney:	n/a	chr9:14348122-14348135
47	CTCF	chr9:14347600-14347750	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr9:14348080-14348230	AoAF	blood vessel:	n/a	chr9:14348122-14348135
49	CTCF	chr9:14348020-14348170	NHEK	skin:	n/a	chr9:14348122-14348135
50	CTCF	chr9:14348060-14348210	HCM	heart:	n/a	chr9:14348122-14348135

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:14346276-14346326	GM12878	blood:	n/a
2	chr9:14346834-14346884	AG09309	skin:	n/a
3	chr9:14347753-14347803	H1-hESC	embryonic stem cell:	embryo
4	chr9:14346276-14346326	BE2_C	brain:	n/a
5	chr9:14346276-14346326	PANC-1	pancreas:	n/a
6	chr9:14346393-14346443	GM12891	blood:	n/a
7	chr9:14346393-14346443	HRPEpiC	eye:	n/a
8	chr9:14347753-14347803	HCPEpiC	choroid plexus:	n/a
9	chr9:14346276-14346326	Hepatocyte	liver:	n/a
10	chr9:14347753-14347803	AG04449	skin:	fetal
11	chr9:14346393-14346443	ProgFib	skin:	n/a
12	chr9:14346393-14346443	LNCaP	prostate:	n/a
13	chr9:14346393-14346443	U87	brain:	n/a
14	chr9:14346276-14346326	HCPEpiC	choroid plexus:	n/a
15	chr9:14346834-14346884	HPAEpiC	pulmonary alveolar:	n/a
16	chr9:14347753-14347803	T-47D	breast:	n/a
17	chr9:14346276-14346326	RPTEC	kidney:	n/a
18	chr9:14346834-14346884	HUVEC	blood vessel:	n/a
19	chr9:14346834-14346884	MCF10A-Er-Src	breast:	n/a
20	chr9:14346393-14346443	ECC-1	luminal epithelium:	n/a
21	chr9:14347753-14347803	Hepatocyte	liver:	n/a
22	chr9:14347753-14347803	HUVEC	blood vessel:	n/a
23	chr9:14347753-14347803	HRE	kidney:	n/a
24	chr9:14347753-14347803	NH-A	brain:	n/a
25	chr9:14346393-14346443	HCPEpiC	choroid plexus:	n/a
26	chr9:14346834-14346884	RPTEC	kidney:	n/a
27	chr9:14347753-14347803	HAEpiC	amniotic membrane:	n/a
28	chr9:14346834-14346884	HRPEpiC	eye:	n/a
29	chr9:14346834-14346884	NT2-D1	testis:	n/a
30	chr9:14346276-14346326	ovcar-3	ovarian:	n/a
31	chr9:14346834-14346884	Caco-2	colon:	n/a
32	chr9:14347753-14347803	SK-N-MC	brain:	n/a
33	chr9:14346834-14346884	CMK	blood:	n/a
34	chr9:14347753-14347803	LNCaP	prostate:	n/a
35	chr9:14346393-14346443	HRE	kidney:	n/a
36	chr9:14346834-14346884	MCF-7	breast:	n/a
37	chr9:14346834-14346884	AG04450	lung:	fetal
38	chr9:14346276-14346326	GM06990	blood:	n/a
39	chr9:14346393-14346443	BE2_C	brain:	n/a
40	chr9:14347753-14347803	Hela-S3	cervix:	n/a
41	chr9:14346834-14346884	BE2_C	brain:	n/a
42	chr9:14346834-14346884	SKMC	muscle:	n/a
43	chr9:14346276-14346326	HRPEpiC	eye:	n/a
44	chr9:14346276-14346326	T-47D	breast:	n/a
45	chr9:14346834-14346884	T-47D	breast:	n/a
46	chr9:14347753-14347803	PFSK-1	brain:	n/a
47	chr9:14346393-14346443	SK-N-SH_RA	brain:	n/a
48	chr9:14346393-14346443	SK-N-SH	brain:	n/a
49	chr9:14346393-14346443	GM19239	blood:	n/a
50	chr9:14346276-14346326	A549	lung:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14313044..14315034-chr9:14344732..14346813,2	MCF-7	breast:
2	chr9:14321896..14324157-chr9:14348528..14353248,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf146-2	chr9:14347151-14347907	NONHSAT130245
2	lnc-C9orf146-2	chr9:14347319-14347354	ENSG00000225472.1

No data

Variant related genes	Relation type
ENSG00000225472	TF binding region
ENSG00000225472	CpG island
ENSG00000147862	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7870860	chr9:14345605-14345606	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532698751	chr9:14345635-14345636	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552537024	chr9:14345697-14345698	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550784413	chr9:14345737-14345738	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs4469562	chr9:14345762-14345763	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184280979	chr9:14345830-14345831	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs189045905	chr9:14345843-14345844	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs548715433	chr9:14345858-14345859	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs181264430	chr9:14345876-14345877	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs10115333	chr9:14345902-14345903	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs185041194	chr9:14345954-14345955	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs56926458	chr9:14346047-14346048	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs10119216	chr9:14346060-14346061	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555971147	chr9:14346095-14346096	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs139198705	chr9:14346099-14346100	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs535146545	chr9:14346101-14346102	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs73641909	chr9:14346104-14346105	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2025318	chr9:14346131-14346132	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540681342	chr9:14346178-14346179	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs554438080	chr9:14346184-14346185	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs577513762	chr9:14346192-14346193	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs12343468	chr9:14346208-14346209	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563035715	chr9:14346214-14346215	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs144301252	chr9:14346290-14346291	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs531962719	chr9:14346295-14346296	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs67699489	chr9:14346299-14346300	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs72700531	chr9:14346343-14346344	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189603091	chr9:14346364-14346365	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs12338722	chr9:14346394-14346395	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547517682	chr9:14346477-14346478	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs2181405	chr9:14346512-14346513	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs149946442	chr9:14346520-14346521	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs533112833	chr9:14346531-14346532	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs537227678	chr9:14346532-14346533	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549681767	chr9:14346603-14346604	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs56889582	chr9:14346611-14346612	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535273570	chr9:14346613-14346614	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555005199	chr9:14346630-14346631	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs565678219	chr9:14346705-14346706	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs145093990	chr9:14346730-14346731	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs78014157	chr9:14346736-14346737	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572951667	chr9:14346759-14346760	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs574146054	chr9:14346770-14346771	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs180672621	chr9:14346781-14346782	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs556897967	chr9:14346861-14346862	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs576667937	chr9:14346871-14346872	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs371353533	chr9:14346971-14346972	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs56278142	chr9:14346979-14346980	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573269328	chr9:14347083-14347084	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs185387889	chr9:14347127-14347128	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD

Chromatin state (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14341000-14346400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
2	chr9:14343800-14345800	Weak transcription	Lung	lung
3	chr9:14343800-14346000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:14343800-14350800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr9:14343800-14351000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr9:14344000-14346000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr9:14344000-14348600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr9:14344000-14349200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr9:14344200-14345800	Bivalent Enhancer	NH-A	brain
10	chr9:14344200-14348200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr9:14344400-14345800	Weak transcription	Right Ventricle	heart
12	chr9:14344400-14346800	Weak transcription	Left Ventricle	heart
13	chr9:14344600-14346800	Weak transcription	Aorta	Aorta
14	chr9:14344600-14346800	Weak transcription	HUVEC	blood vessel
15	chr9:14344600-14347200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr9:14344600-14350800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr9:14344800-14345800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:14344800-14346000	Bivalent Enhancer	HMEC	breast
19	chr9:14344800-14346600	Bivalent Enhancer	Fetal Heart	heart
20	chr9:14345000-14345800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:14345000-14345800	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr9:14345000-14346000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:14345000-14347000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:14345000-14347000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
25	chr9:14345000-14349000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr9:14345000-14349000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr9:14345200-14345800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:14345200-14345800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr9:14345200-14345800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr9:14345200-14346000	Flanking Bivalent TSS/Enh	NHEK	skin
31	chr9:14345200-14346600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
32	chr9:14345200-14346600	Weak transcription	Psoas Muscle	Psoas
33	chr9:14345200-14347200	Weak transcription	A549	lung
34	chr9:14345400-14346000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chr9:14345400-14346000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:14345400-14346200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:14345400-14346400	Bivalent Enhancer	Rectal Smooth Muscle	rectum
38	chr9:14345400-14347000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr9:14345400-14347800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
40	chr9:14345400-14350000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:14345600-14345800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:14345600-14345800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:14345600-14345800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:14345600-14345800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr9:14345600-14345800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr9:14345600-14345800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
47	chr9:14345600-14345800	Active TSS	Fetal Brain Female	brain
48	chr9:14345600-14345800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
49	chr9:14345600-14346000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
50	chr9:14345600-14346000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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