Variant report

Variant	nsv892074
Chromosome Location	chr9:2623615-2629776
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	BHLHE40	chr9:2623345-2623847	A549	lung:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
3	BHLHE40	chr9:2623320-2623869	HepG2	liver:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
4	BHLHE40	chr9:2623210-2623849	GM12878	blood:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
5	CEBPB	chr9:2624317-2624652	K562	blood:	n/a	chr9:2624483-2624494 chr9:2624485-2624496 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624496 chr9:2624483-2624496 chr9:2624483-2624496 chr9:2624483-2624496
6	CEBPB	chr9:2624344-2624623	Hela-S3	cervix:	n/a	chr9:2624483-2624494 chr9:2624485-2624496 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624496 chr9:2624483-2624496 chr9:2624483-2624496 chr9:2624483-2624496
7	CEBPB	chr9:2624309-2624662	HepG2	liver:	n/a	chr9:2624483-2624494 chr9:2624485-2624496 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624496 chr9:2624483-2624496 chr9:2624483-2624496 chr9:2624483-2624496
8	CEBPB	chr9:2624376-2624611	MCF-7	breast:	n/a	chr9:2624483-2624494 chr9:2624485-2624496 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624496 chr9:2624483-2624496 chr9:2624483-2624496 chr9:2624483-2624496
9	CEBPB	chr9:2624289-2624719	A549	lung:	n/a	chr9:2624483-2624494 chr9:2624485-2624496 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624496 chr9:2624483-2624496 chr9:2624483-2624496 chr9:2624483-2624496
10	CEBPB	chr9:2623648-2624167	A549	lung:	n/a	chr9:2623970-2623983
11	CEBPB	chr9:2624354-2624556	H1-hESC	embryonic stem cell:	n/a	chr9:2624483-2624494 chr9:2624485-2624496 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624496 chr9:2624483-2624496 chr9:2624483-2624496 chr9:2624483-2624496
12	CEBPB	chr9:2624305-2624658	IMR90	lung:	n/a	chr9:2624483-2624494 chr9:2624485-2624496 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624496 chr9:2624483-2624496 chr9:2624483-2624496 chr9:2624483-2624496
13	CEBPB	chr9:2623740-2624029	IMR90	lung:	n/a	chr9:2623970-2623983
14	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
15	CHD2	chr9:2623655-2623720	HepG2	liver:	n/a	n/a
16	CHD2	chr9:2623436-2623773	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTBP2	chr9:2622199-2623772	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr9:2625520-2625670	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr9:2625520-2625670	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr9:2625520-2625670	BJ	skin:	n/a	n/a
21	CTCF	chr9:2625580-2625730	AG04449	skin:	n/a	n/a
22	CTCF	chr9:2625560-2625710	BE2_C	brain:	n/a	n/a
23	CTCF	chr9:2625560-2625710	HPF	lung:	n/a	n/a
24	CTCF	chr9:2625580-2625730	AG04450	lung:	n/a	n/a
25	CTCF	chr9:2625580-2625730	MCF-7	breast:	n/a	n/a
26	CTCF	chr9:2625560-2625710	HMEC	breast:	n/a	n/a
27	CTCF	chr9:2625500-2625650	GM12864	blood:	n/a	n/a
28	CTCF	chr9:2625608-2625649	MCF-7	breast:	n/a	n/a
29	CTCF	chr9:2625460-2625610	HMEC	breast:	n/a	n/a
30	CTCF	chr9:2625520-2625670	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr9:2625520-2625670	NHEK	skin:	n/a	n/a
32	CTCF	chr9:2625560-2625710	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr9:2625580-2625730	HRE	kidney:	n/a	n/a
34	CTCF	chr9:2625500-2625650	HCM	heart:	n/a	n/a
35	CTCF	chr9:2625660-2625810	GM06990	blood:	n/a	n/a
36	CTCF	chr9:2625560-2625710	HAc	cerebellar:	n/a	n/a
37	CTCF	chr9:2625560-2625710	GM12864	blood:	n/a	n/a
38	CTCF	chr9:2625540-2625690	AG10803	skin:	n/a	n/a
39	CTCF	chr9:2625560-2625710	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr9:2625540-2625690	MCF-7	breast:	n/a	n/a
41	CTCF	chr9:2625520-2625670	HCFaa	heart:	n/a	n/a
42	CTCF	chr9:2625460-2625610	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr9:2625560-2625710	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr9:2625580-2625730	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr9:2625540-2625690	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr9:2625740-2625890	HMF	breast:	n/a	n/a
47	CTCF	chr9:2625540-2625690	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr9:2625540-2625690	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr9:2625520-2625670	AG04450	lung:	n/a	n/a
50	CTCF	chr9:2625593-2625675	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:2626347-2626397	Hepatocyte	liver:	n/a
2	chr9:2626347-2626397	Caco-2	colon:	n/a
3	chr9:2626347-2626397	GM06990	blood:	n/a
4	chr9:2623684-2623734	A549	lung:	n/a
5	chr9:2626347-2626397	ovcar-3	ovarian:	n/a
6	chr9:2626347-2626397	AG04450	lung:	fetal
7	chr9:2626347-2626397	HPAEpiC	pulmonary alveolar:	n/a
8	chr9:2623684-2623734	CMK	blood:	n/a
9	chr9:2626347-2626397	AoSMC	blood vessel:	n/a
10	chr9:2626347-2626397	Hela-S3	cervix:	n/a
11	chr9:2626347-2626397	HRPEpiC	eye:	n/a
12	chr9:2623684-2623734	ovcar-3	ovarian:	n/a
13	chr9:2623684-2623734	HCT-116	colon:	n/a
14	chr9:2623684-2623734	HPAEpiC	pulmonary alveolar:	n/a
15	chr9:2623684-2623734	AG09309	skin:	n/a
16	chr9:2626347-2626397	HCF	heart:	n/a
17	chr9:2626347-2626397	AG04449	skin:	fetal
18	chr9:2623684-2623734	NT2-D1	testis:	n/a
19	chr9:2626347-2626397	HL-60	blood:	n/a
20	chr9:2623684-2623734	SK-N-MC	brain:	n/a
21	chr9:2623684-2623734	ECC-1	luminal epithelium:	n/a
22	chr9:2623684-2623734	AoSMC	blood vessel:	n/a
23	chr9:2623684-2623734	HIPEpiC	eye:	n/a
24	chr9:2626347-2626397	H1-hESC	embryonic stem cell:	embryo
25	chr9:2626347-2626397	CMK	blood:	n/a
26	chr9:2623684-2623734	NH-A	brain:	n/a
27	chr9:2623684-2623734	T-47D	breast:	n/a
28	chr9:2623684-2623734	PANC-1	pancreas:	n/a
29	chr9:2623684-2623734	Hepatocyte	liver:	n/a
30	chr9:2626347-2626397	HAEpiC	amniotic membrane:	n/a
31	chr9:2623684-2623734	SAEC	small airway:	n/a
32	chr9:2626347-2626397	GM19239	blood:	n/a
33	chr9:2623684-2623734	IMR90	lung:	fetal
34	chr9:2623684-2623734	SK-N-SH_RA	brain:	n/a
35	chr9:2626347-2626397	NH-A	brain:	n/a
36	chr9:2623684-2623734	HRE	kidney:	n/a
37	chr9:2626347-2626397	HRE	kidney:	n/a
38	chr9:2623684-2623734	HCPEpiC	choroid plexus:	n/a
39	chr9:2626347-2626397	HCT-116	colon:	n/a
40	chr9:2623684-2623734	HMEC	breast:	n/a
41	chr9:2626347-2626397	GM12878	blood:	n/a
42	chr9:2623684-2623734	AG04450	lung:	fetal
43	chr9:2623684-2623734	NB4	blood:	n/a
44	chr9:2626347-2626397	Jurkat	blood:	n/a
45	chr9:2623684-2623734	BE2_C	brain:	n/a
46	chr9:2623684-2623734	GM19239	blood:	n/a
47	chr9:2626347-2626397	HMEC	breast:	n/a
48	chr9:2623684-2623734	MCF-7	breast:	n/a
49	chr9:2626347-2626397	T-47D	breast:	n/a
50	chr9:2623684-2623734	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr9:2620203..2621987-chr9:2627062..2629533,2	MCF-7	breast:
2	chr9:2622798..2625667-chr9:2640741..2642429,2	K562	blood:
3	chr9:2621566..2623636-chr9:2638581..2641950,3	MCF-7	breast:
4	chr9:2228114..2228719-chr9:2625246..2626097,2	MCF-7	breast:
5	chr9:2620987..2624573-chr9:2639977..2643677,3	MCF-7	breast:
6	chr9:2621586..2624495-chr9:2626376..2628188,2	K562	blood:
7	chr9:2624771..2627181-chr9:2629101..2631938,2	MCF-7	breast:
8	chr9:2624771..2627181-chr9:2629101..2631938,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236404	TF binding region
ENSG00000236404	CpG island
ENSG00000236404	chromatin interactions
ENSG00000147852	chromatin interactions

Extended variants
information (count: 270 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7032549	chr9:2623615-2623616	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs146076452	chr9:2623621-2623622	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555901213	chr9:2623622-2623623	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575926639	chr9:2623648-2623649	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573505184	chr9:2623664-2623665	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544871287	chr9:2623669-2623670	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs7860109	chr9:2623698-2623699	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs151226243	chr9:2623705-2623706	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111865370	chr9:2623744-2623745	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs35728456	chr9:2623753-2623754	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528951085	chr9:2623776-2623777	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35731071	chr9:2623803-2623804	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562299791	chr9:2623867-2623868	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs531408232	chr9:2623919-2623920	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551260748	chr9:2623961-2623962	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549426672	chr9:2623968-2623969	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185975123	chr9:2623987-2623988	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138053467	chr9:2623999-2624000	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547001307	chr9:2624018-2624019	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs149482931	chr9:2624036-2624037	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535911180	chr9:2624037-2624038	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189188212	chr9:2624046-2624047	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565595484	chr9:2624058-2624059	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs35502516	chr9:2624064-2624065	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7022086	chr9:2624104-2624105	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558473773	chr9:2624108-2624109	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs372870686	chr9:2624162-2624163	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs578256976	chr9:2624182-2624183	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7022122	chr9:2624186-2624187	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561186000	chr9:2624189-2624190	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78825935	chr9:2624219-2624220	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530205255	chr9:2624226-2624227	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573563552	chr9:2624263-2624264	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs28439743	chr9:2624276-2624277	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs62533760	chr9:2624278-2624279	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs35038887	chr9:2624294-2624295	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567021829	chr9:2624296-2624297	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs564816763	chr9:2624378-2624379	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34019250	chr9:2624384-2624385	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547392656	chr9:2624422-2624423	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13290598	chr9:2624433-2624434	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529315459	chr9:2624440-2624441	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114031218	chr9:2624444-2624445	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs33974910	chr9:2624476-2624477	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538420031	chr9:2624502-2624503	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558351897	chr9:2624503-2624504	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529505690	chr9:2624509-2624510	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146384826	chr9:2624552-2624553	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186517290	chr9:2624559-2624560	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs34118334	chr9:2624575-2624576	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Schizophrenia	20967226	CNVD
Ovarian cancer	21781307	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2619800-2624000	Active TSS	Ovary	ovary
2	chr9:2620000-2624000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:2620000-2624200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:2620400-2623800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr9:2620600-2624000	Active TSS	Right Atrium	heart
6	chr9:2620600-2624200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr9:2620800-2623800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:2620800-2623800	Active TSS	Brain Angular Gyrus	brain
9	chr9:2620800-2623800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr9:2620800-2623800	Active TSS	A549	lung
11	chr9:2620800-2624000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:2620800-2624000	Active TSS	Fetal Kidney	kidney
13	chr9:2620800-2624400	Active TSS	Right Ventricle	heart
14	chr9:2621000-2623800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:2621000-2623800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:2621000-2623800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr9:2621000-2623800	Active TSS	Psoas Muscle	Psoas
18	chr9:2621000-2623800	Active TSS	NHLF	lung
19	chr9:2621000-2624000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr9:2621000-2624000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:2621000-2624200	Active TSS	Aorta	Aorta
22	chr9:2621000-2624200	Active TSS	Left Ventricle	heart
23	chr9:2621200-2623800	Active TSS	Brain Cingulate Gyrus	brain
24	chr9:2621200-2623800	Active TSS	Esophagus	oesophagus
25	chr9:2621200-2623800	Active TSS	Gastric	stomach
26	chr9:2621200-2623800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
27	chr9:2621400-2623800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr9:2621400-2623800	Active TSS	Brain Substantia Nigra	brain
29	chr9:2621400-2623800	Active TSS	Fetal Lung	lung
30	chr9:2621400-2623800	Active TSS	Placenta Amnion	Placenta Amnion
31	chr9:2621400-2624000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:2621400-2624000	Active TSS	Fetal Brain Male	brain
33	chr9:2621400-2624200	Active TSS	Pancreas	Pancrea
34	chr9:2621400-2624800	Active TSS	Stomach Smooth Muscle	stomach
35	chr9:2622200-2623800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:2622200-2623800	Flanking Active TSS	Placenta	Placenta
37	chr9:2622200-2624000	Flanking Active TSS	Liver	Liver
38	chr9:2622400-2623800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr9:2622400-2623800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr9:2622800-2623800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
41	chr9:2622800-2623800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr9:2622800-2623800	Bivalent/Poised TSS	HSMM	muscle
43	chr9:2623000-2623800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:2623000-2623800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
45	chr9:2623000-2623800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:2623000-2623800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
47	chr9:2623000-2623800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr9:2623000-2623800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
49	chr9:2623000-2623800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
50	chr9:2623000-2623800	Flanking Bivalent TSS/Enh	NHEK	skin

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