Variant report

Variant	nsv824819
Chromosome Location	chr9:2620547-2623694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr9:2623434-2623749	H1-hESC	embryonic stem cell:	n/a	chr9:2623474-2623494
2	BACH1	chr9:2621410-2621682	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr9:2621265-2621528	GM12878	blood:	n/a	n/a
4	BATF	chr9:2621293-2621482	GM12878	blood:	n/a	n/a
5	BHLHE40	chr9:2621241-2621747	HepG2	liver:	n/a	chr9:2621658-2621674 chr9:2621583-2621599
6	BHLHE40	chr9:2622428-2622971	GM12878	blood:	n/a	chr9:2622781-2622797 chr9:2622746-2622762
7	BHLHE40	chr9:2623320-2623869	HepG2	liver:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
8	BHLHE40	chr9:2621256-2621931	GM12878	blood:	n/a	chr9:2621658-2621674 chr9:2621798-2621814 chr9:2621583-2621599 chr9:2621799-2621815
9	BHLHE40	chr9:2623210-2623849	GM12878	blood:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
10	BHLHE40	chr9:2623345-2623847	A549	lung:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
11	BHLHE40	chr9:2621446-2621718	K562	blood:	n/a	chr9:2621658-2621674 chr9:2621583-2621599
12	BRCA1	chr9:2623380-2623503	HepG2	liver:	n/a	n/a
13	CCNT2	chr9:2621423-2621804	K562	blood:	n/a	n/a
14	CEBPB	chr9:2621155-2621549	IMR90	lung:	n/a	n/a
15	CEBPB	chr9:2621167-2621499	A549	lung:	n/a	n/a
16	CEBPB	chr9:2623648-2624167	A549	lung:	n/a	chr9:2623970-2623983
17	CEBPB	chr9:2621194-2621559	MCF-7	breast:	n/a	n/a
18	CEBPB	chr9:2621303-2621449	HepG2	liver:	n/a	n/a
19	CEBPB	chr9:2621158-2621559	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr9:2621171-2621587	HepG2	liver:	n/a	n/a
21	CEBPB	chr9:2621175-2621530	HepG2	liver:	n/a	n/a
22	CEBPB	chr9:2623681-2624674	A549	lung:	n/a	chr9:2624483-2624494 chr9:2624485-2624496 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2623970-2623983 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624496 chr9:2624483-2624496 chr9:2624483-2624496 chr9:2624483-2624496
23	CEBPB	chr9:2621212-2621491	K562	blood:	n/a	n/a
24	CEBPB	chr9:2621124-2621632	A549	lung:	n/a	n/a
25	CHD1	chr9:2620886-2622127	IMR90	lung:	n/a	n/a
26	CHD1	chr9:2622947-2623141	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr9:2621190-2621402	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr9:2621237-2621569	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr9:2621351-2621538	GM12878	blood:	n/a	n/a
30	CHD2	chr9:2623436-2623773	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr9:2623655-2623720	HepG2	liver:	n/a	n/a
32	CREB1	chr9:2621228-2621757	A549	lung:	n/a	n/a
33	CREB1	chr9:2621101-2621956	HepG2	liver:	n/a	n/a
34	CREB1	chr9:2622068-2622398	A549	lung:	n/a	n/a
35	CTBP2	chr9:2622199-2623772	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTBP2	chr9:2621174-2621616	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr9:2622363-2622484	Medullo	brain:	n/a	n/a
38	CTCF	chr9:2622309-2622480	GM12892	blood:	n/a	n/a
39	CTCF	chr9:2621320-2621470	AG04449	skin:	n/a	n/a
40	CTCF	chr9:2622737-2622740	Fibrobl	skin:	n/a	n/a
41	CTCF	chr9:2621300-2621450	SAEC	small airway:	n/a	n/a
42	CTCF	chr9:2622340-2622490	BJ	skin:	n/a	n/a
43	CTCF	chr9:2622601-2622868	GM19238	blood:	n/a	chr9:2622750-2622763
44	CTCF	chr9:2621280-2621570	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr9:2621340-2621490	GM12871	blood:	n/a	n/a
46	CTCF	chr9:2622323-2622497	MCF-7	breast:	n/a	n/a
47	CTCF	chr9:2622320-2622470	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr9:2621360-2621510	HVMF	connective:	n/a	n/a
49	CTCF	chr9:2622340-2622490	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr9:2621296-2621498	NHEK	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:2622584-2622634	GM12878	blood:	n/a
2	chr9:2623684-2623734	Hela-S3	cervix:	n/a
3	chr9:2623562-2623612	GM19239	blood:	n/a
4	chr9:2622584-2622634	AG04450	lung:	fetal
5	chr9:2623146-2623196	GM12891	blood:	n/a
6	chr9:2621094-2621144	CMK	blood:	n/a
7	chr9:2621379-2621429	BJ	skin:	n/a
8	chr9:2623684-2623734	AoSMC	blood vessel:	n/a
9	chr9:2621379-2621429	NH-A	brain:	n/a
10	chr9:2623684-2623734	HRPEpiC	eye:	n/a
11	chr9:2623562-2623612	ovcar-3	ovarian:	n/a
12	chr9:2623562-2623612	BJ	skin:	n/a
13	chr9:2623562-2623612	ECC-1	luminal epithelium:	n/a
14	chr9:2623562-2623612	NB4	blood:	n/a
15	chr9:2622584-2622634	HAEpiC	amniotic membrane:	n/a
16	chr9:2621379-2621429	HUVEC	blood vessel:	n/a
17	chr9:2623562-2623612	RPTEC	kidney:	n/a
18	chr9:2623146-2623196	Hela-S3	cervix:	n/a
19	chr9:2621379-2621429	HNPCEpiC	eye:	n/a
20	chr9:2623562-2623612	NT2-D1	testis:	n/a
21	chr9:2621918-2621968	LNCaP	prostate:	n/a
22	chr9:2623684-2623734	SKMC	muscle:	n/a
23	chr9:2621094-2621144	SK-N-SH_RA	brain:	n/a
24	chr9:2621094-2621144	HCT-116	colon:	n/a
25	chr9:2621918-2621968	HL-60	blood:	n/a
26	chr9:2621379-2621429	ovcar-3	ovarian:	n/a
27	chr9:2621379-2621429	GM12891	blood:	n/a
28	chr9:2623562-2623612	HMEC	breast:	n/a
29	chr9:2621094-2621144	HEK293	kidney:	embryo
30	chr9:2621379-2621429	PFSK-1	brain:	n/a
31	chr9:2623562-2623612	SK-N-SH_RA	brain:	n/a
32	chr9:2622584-2622634	RPTEC	kidney:	n/a
33	chr9:2621918-2621968	NT2-D1	testis:	n/a
34	chr9:2623562-2623612	Caco-2	colon:	n/a
35	chr9:2623684-2623734	NB4	blood:	n/a
36	chr9:2621094-2621144	GM19239	blood:	n/a
37	chr9:2623562-2623612	GM12891	blood:	n/a
38	chr9:2623684-2623734	NHDF-neo	bronchial:	n/a
39	chr9:2621094-2621144	NB4	blood:	n/a
40	chr9:2623562-2623612	LNCaP	prostate:	n/a
41	chr9:2623146-2623196	SK-N-MC	brain:	n/a
42	chr9:2623146-2623196	K562	blood:	n/a
43	chr9:2622584-2622634	SK-N-SH	brain:	n/a
44	chr9:2621379-2621429	HL-60	blood:	n/a
45	chr9:2621918-2621968	AG04450	lung:	fetal
46	chr9:2623684-2623734	GM12892	blood:	n/a
47	chr9:2621094-2621144	HCM	heart:	n/a
48	chr9:2623562-2623612	HCF	heart:	n/a
49	chr9:2621918-2621968	GM19239	blood:	n/a
50	chr9:2623684-2623734	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:2620987..2624573-chr9:2639977..2643677,3	MCF-7	breast:
2	chr9:2621566..2623636-chr9:2638581..2641950,3	MCF-7	breast:
3	chr9:2622798..2625667-chr9:2640741..2642429,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0020-1	chr9:2621229-2621413	ENSG00000236404.4
2	lnc-KIAA0020-1	chr9:2622100-2622373	NR_015375
3	lnc-KIAA0020-1	chr9:2619998-2621792	NONHSAT130002
4	lnc-KIAA0020-1	chr9:2622100-2622373	ENSG00000236404
5	lnc-KIAA0020-1	chr9:2621229-2621413	ENSG00000236404

Variant related genes	Relation type
ENSG00000236404	TF binding region
VLDLR	TF binding region
ENSG00000236404	CpG island
VLDLR	CpG island
ENSG00000236404	chromatin interactions
SPRED1	miRNA target sites

Extended variants
information (count: 151 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35837671	chr9:2620555-2620556	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35845312	chr9:2620592-2620593	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs145936604	chr9:2620597-2620598	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs541078658	chr9:2620600-2620601	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs571900943	chr9:2620625-2620626	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs191347489	chr9:2620644-2620645	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs35652589	chr9:2620661-2620662	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs574569629	chr9:2620892-2620893	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs543290431	chr9:2620962-2620963	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs563556701	chr9:2620975-2620976	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs532480122	chr9:2621021-2621022	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs1454626	chr9:2621030-2621031	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	mRNA abundance
13	rs565246426	chr9:2621035-2621036	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs182980844	chr9:2621058-2621059	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs547823761	chr9:2621079-2621080	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs545254724	chr9:2621092-2621093	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs7043199	chr9:2621145-2621146	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs187639366	chr9:2621156-2621157	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs543125758	chr9:2621174-2621175	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs563429300	chr9:2621175-2621176	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs35209383	chr9:2621177-2621178	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs34265942	chr9:2621207-2621208	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs569936710	chr9:2621209-2621210	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs367908495	chr9:2621217-2621218	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs564056759	chr9:2621225-2621226	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs374395247	chr9:2621226-2621227	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs538912570	chr9:2621283-2621284	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs552460317	chr9:2621299-2621300	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs139836825	chr9:2621366-2621367	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs13293477	chr9:2621392-2621393	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs13291662	chr9:2621393-2621394	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs534365517	chr9:2621399-2621400	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs554638310	chr9:2621406-2621407	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs367615501	chr9:2621409-2621410	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs574479871	chr9:2621421-2621422	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs537226835	chr9:2621428-2621429	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs557167371	chr9:2621469-2621470	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs7852409	chr9:2621482-2621483	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs546080769	chr9:2621490-2621491	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs373927208	chr9:2621502-2621503	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs533021566	chr9:2621508-2621509	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs572401936	chr9:2621520-2621521	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs541109419	chr9:2621523-2621524	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs561418350	chr9:2621559-2621560	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs530164662	chr9:2621560-2621561	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs142199771	chr9:2621564-2621565	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs563500870	chr9:2621570-2621571	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs532569490	chr9:2621572-2621573	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs34219151	chr9:2621574-2621575	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs566069873	chr9:2621585-2621586	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Schizophrenia	23813976	CNVD
Ovarian cancer	22355333	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Schizophrenia	20967226	CNVD
Ovarian cancer	21781307	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2614200-2621000	Weak transcription	Pancreas	Pancrea
2	chr9:2614200-2621200	Weak transcription	Lung	lung
3	chr9:2614400-2620600	Weak transcription	Right Atrium	heart
4	chr9:2614400-2621000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:2616400-2620600	Weak transcription	Fetal Stomach	stomach
6	chr9:2616800-2620800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:2616800-2621000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:2619200-2620600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:2619400-2620600	Weak transcription	Fetal Heart	heart
10	chr9:2619800-2624000	Active TSS	Ovary	ovary
11	chr9:2620000-2620600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
12	chr9:2620000-2620600	Enhancers	Fetal Brain Male	brain
13	chr9:2620000-2620800	Enhancers	Brain Cingulate Gyrus	brain
14	chr9:2620000-2624000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr9:2620000-2624200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:2620200-2620600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:2620200-2620600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:2620200-2620600	Enhancers	Brain Germinal Matrix	brain
19	chr9:2620200-2620600	Enhancers	Brain Hippocampus Middle	brain
20	chr9:2620200-2620600	Active TSS	NHEK	skin
21	chr9:2620200-2620800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr9:2620200-2620800	Enhancers	Adipose Nuclei	Adipose
23	chr9:2620200-2620800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr9:2620200-2621000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr9:2620200-2621000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr9:2620200-2621000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
27	chr9:2620200-2621000	Enhancers	Brain Substantia Nigra	brain
28	chr9:2620200-2621000	Active TSS	Stomach Smooth Muscle	stomach
29	chr9:2620200-2621400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:2620200-2621400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
31	chr9:2620200-2623600	Active TSS	Brain Anterior Caudate	brain
32	chr9:2620400-2620600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:2620400-2620600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:2620400-2620600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr9:2620400-2620600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:2620400-2620800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr9:2620400-2620800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:2620400-2620800	Weak transcription	Brain Angular Gyrus	brain
39	chr9:2620400-2620800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr9:2620400-2621400	Flanking Active TSS	Dnd41	blood
41	chr9:2620400-2622200	Active TSS	Fetal Brain Female	brain
42	chr9:2620400-2623200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr9:2620400-2623800	Active TSS	H9 Cell Line	embryonic stem cell
44	chr9:2620600-2620800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr9:2620600-2620800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:2620600-2620800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr9:2620600-2620800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:2620600-2620800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:2620600-2620800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr9:2620600-2620800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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