Variant report

Variant	esv3325224
Chromosome Location	chr3:49590473-49593321
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	ARID3A	chr3:49591631-49591760	HepG2	liver:	n/a	n/a
2	BACH1	chr3:49592239-49592468	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr3:49591017-49591659	K562	blood:	n/a	n/a
4	BHLHE40	chr3:49592191-49592225	GM12878	blood:	n/a	n/a
5	BHLHE40	chr3:49591801-49591866	GM12878	blood:	n/a	chr3:49591802-49591818
6	BRCA1	chr3:49590858-49591122	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chr3:49591612-49592347	K562	blood:	n/a	n/a
8	CEBPB	chr3:49590732-49591137	Hela-S3	cervix:	n/a	chr3:49590925-49590934 chr3:49590923-49590934
9	CEBPB	chr3:49590737-49591186	MCF-7	breast:	n/a	chr3:49590925-49590934 chr3:49590923-49590934
10	CEBPB	chr3:49590741-49591116	A549	lung:	n/a	chr3:49590925-49590934 chr3:49590923-49590934
11	CEBPB	chr3:49590694-49591147	K562	blood:	n/a	chr3:49590925-49590934 chr3:49590923-49590934
12	CEBPB	chr3:49591532-49591725	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr3:49590673-49591186	ECC-1	luminal epithelium:	n/a	chr3:49590925-49590934 chr3:49590923-49590934
14	CEBPB	chr3:49590746-49591119	HepG2	liver:	n/a	chr3:49590925-49590934 chr3:49590923-49590934
15	CEBPB	chr3:49590721-49591119	K562	blood:	n/a	chr3:49590925-49590934 chr3:49590923-49590934
16	CEBPB	chr3:49590774-49591120	A549	lung:	n/a	chr3:49590925-49590934 chr3:49590923-49590934
17	CEBPB	chr3:49590729-49591099	HepG2	liver:	n/a	chr3:49590925-49590934 chr3:49590923-49590934
18	CEBPB	chr3:49590771-49591026	K562	blood:	n/a	chr3:49590925-49590934 chr3:49590923-49590934
19	CEBPB	chr3:49592642-49592651	HepG2	liver:	n/a	n/a
20	CEBPB	chr3:49590716-49591152	ECC-1	luminal epithelium:	n/a	chr3:49590925-49590934 chr3:49590923-49590934
21	CEBPB	chr3:49590681-49591121	MCF-7	breast:	n/a	chr3:49590925-49590934 chr3:49590923-49590934
22	CEBPB	chr3:49590737-49591129	IMR90	lung:	n/a	chr3:49590925-49590934 chr3:49590923-49590934
23	CEBPB	chr3:49590627-49591233	A549	lung:	n/a	chr3:49590925-49590934 chr3:49590923-49590934
24	CEBPB	chr3:49590748-49591122	H1-hESC	embryonic stem cell:	n/a	chr3:49590925-49590934 chr3:49590923-49590934
25	CEBPD	chr3:49591615-49592015	HepG2	liver:	n/a	n/a
26	CHD1	chr3:49592278-49592381	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr3:49591624-49591735	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr3:49592265-49592323	HepG2	liver:	n/a	n/a
29	CREB1	chr3:49592120-49592329	A549	lung:	n/a	n/a
30	CREB1	chr3:49591348-49591976	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr3:49591316-49592050	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr3:49591688-49592058	A549	lung:	n/a	n/a
33	CTCF	chr3:49592163-49592210	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr3:49591780-49591930	HUVEC	blood vessel:	n/a	chr3:49591905-49591918
35	CTCF	chr3:49592080-49592230	AG04449	skin:	n/a	n/a
36	CTCF	chr3:49592177-49592199	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr3:49592173-49592202	Lung_OC	lung:	n/a	n/a
38	CTCF	chr3:49591832-49591869	Lung_OC	lung:	n/a	n/a
39	CTCF	chr3:49592440-49592590	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr3:49591792-49591970	Spleen_OC	spleen:	n/a	chr3:49591905-49591918
41	E2F4	chr3:49591662-49591955	MCF10A-Er-Src	breast:	n/a	chr3:49591838-49591849 chr3:49591894-49591903 chr3:49591940-49591950
42	E2F4	chr3:49591607-49592358	K562	blood:	n/a	chr3:49591838-49591849 chr3:49591894-49591903 chr3:49591940-49591950
43	E2F6	chr3:49592081-49592287	K562	blood:	n/a	n/a
44	E2F6	chr3:49591619-49592041	K562	blood:	n/a	chr3:49591894-49591903 chr3:49591940-49591950
45	E2F6	chr3:49592015-49592201	K562	blood:	n/a	n/a
46	E2F6	chr3:49591515-49592003	A549	lung:	n/a	chr3:49591894-49591903 chr3:49591940-49591950
47	E2F6	chr3:49591209-49592438	K562	blood:	n/a	chr3:49592404-49592416 chr3:49591894-49591903 chr3:49591940-49591950
48	EGR1	chr3:49591625-49591954	K562	blood:	n/a	chr3:49591800-49591809 chr3:49591894-49591903 chr3:49591876-49591889
49	EGR1	chr3:49591628-49591973	K562	blood:	n/a	chr3:49591800-49591809 chr3:49591894-49591903 chr3:49591876-49591889
50	ELF1	chr3:49591695-49591961	K562	blood:	n/a	chr3:49591942-49591951 chr3:49591911-49591920

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:49592476-49592526	HL-60	blood:	n/a
2	chr3:49592476-49592526	HL-60	blood:	n/a
3	chr3:49591748-49591798	AG09309	skin:	n/a
4	chr3:49591642-49591692	NHBE	bronchial:	n/a
5	chr3:49591741-49591791	GM06990	blood:	n/a
6	chr3:49591681-49591731	MCF10A-Er-Src	breast:	n/a
7	chr3:49591741-49591791	PrEC	prostate:	n/a
8	chr3:49591008-49591058	Jurkat	blood:	n/a
9	chr3:49592004-49592054	BE2_C	brain:	n/a
10	chr3:49591008-49591058	NB4	blood:	n/a
11	chr3:49591008-49591058	Hela-S3	cervix:	n/a
12	chr3:49591681-49591731	A549	lung:	n/a
13	chr3:49591642-49591692	GM12878	blood:	n/a
14	chr3:49591741-49591791	H1-hESC	embryonic stem cell:	embryo
15	chr3:49591752-49591802	CMK	blood:	n/a
16	chr3:49591752-49591802	PFSK-1	brain:	n/a
17	chr3:49591748-49591798	SAEC	small airway:	n/a
18	chr3:49591008-49591058	ovcar-3	ovarian:	n/a
19	chr3:49591752-49591802	AG09319	gingival:	n/a
20	chr3:49591741-49591791	HNPCEpiC	eye:	n/a
21	chr3:49591681-49591731	PrEC	prostate:	n/a
22	chr3:49591008-49591058	HNPCEpiC	eye:	n/a
23	chr3:49591642-49591692	GM12891	blood:	n/a
24	chr3:49591628-49591678	MCF10A-Er-Src	breast:	n/a
25	chr3:49591748-49591798	Caco-2	colon:	n/a
26	chr3:49591681-49591731	HPAEpiC	pulmonary alveolar:	n/a
27	chr3:49592004-49592054	MCF10A-Er-Src	breast:	n/a
28	chr3:49591642-49591692	SK-N-MC	brain:	n/a
29	chr3:49591681-49591731	HCF	heart:	n/a
30	chr3:49591752-49591802	ECC-1	luminal epithelium:	n/a
31	chr3:49591628-49591678	NHBE	bronchial:	n/a
32	chr3:49592476-49592526	HUVEC	blood vessel:	n/a
33	chr3:49591752-49591802	GM12878	blood:	n/a
34	chr3:49591628-49591678	GM12892	blood:	n/a
35	chr3:49591681-49591731	HIPEpiC	eye:	n/a
36	chr3:49592476-49592526	PANC-1	pancreas:	n/a
37	chr3:49591748-49591798	K562	blood:	n/a
38	chr3:49592529-49592579	NB4	blood:	n/a
39	chr3:49591642-49591692	HEK293	kidney:	embryo
40	chr3:49591741-49591791	A549	lung:	n/a
41	chr3:49592476-49592526	ECC-1	luminal epithelium:	n/a
42	chr3:49591748-49591798	AG10803	skin:	n/a
43	chr3:49592476-49592526	LNCaP	prostate:	n/a
44	chr3:49591752-49591802	ProgFib	skin:	n/a
45	chr3:49591642-49591692	HEEpiC	esophagus:	n/a
46	chr3:49591008-49591058	HepG2	liver:	n/a
47	chr3:49591681-49591731	AG04449	skin:	fetal
48	chr3:49592004-49592054	SK-N-SH_RA	brain:	n/a
49	chr3:49591681-49591731	Hepatocyte	liver:	n/a
50	chr3:49592004-49592054	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:49588369..49590572-chr3:49704819..49707525,2	K562	blood:
2	chr3:49593038..49595710-chr3:49724290..49725804,2	MCF-7	breast:
3	chr3:49588932..49590951-chr3:49710802..49712975,2	K562	blood:
4	chr3:49582614..49585275-chr3:49588937..49591341,2	K562	blood:
5	chr3:49590547..49592695-chr3:49709214..49711684,3	MCF-7	breast:
6	chr3:49591933..49593774-chr3:49706277..49708341,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NICN1-1	chr3:49591526-49591732	NONHSAT089707
2	lnc-NICN1-1	chr3:49590981-49591098	NONHSAT089707
3	lnc-NICN1-1	chr3:49590374-49591536	NONHSAT089709
4	lnc-NICN1-1	chr3:49591474-49591773	ENSG00000226913
5	lnc-NICN1-1	chr3:49590981-49591120	XLOC_003118
6	lnc-NICN1-1	chr3:49590981-49591098	ENSG00000226913
7	lnc-NICN1-1	chr3:49591474-49591799	ENSG00000226913
8	lnc-NICN1-1	chr3:49590981-49591120	ENSG00000226913
9	lnc-NICN1-1	chr3:49591526-49591610	XLOC_003118

Variant related genes	Relation type
BSN-AS2	TF binding region
BSN	TF binding region
BSN-AS2	CpG island
BSN	CpG island
ENSG00000164062	chromatin interactions
ENSG00000173531	chromatin interactions
KLHL28	miRNA target sites
PVRL4	miRNA target sites
DSCR8	miRNA target sites

Extended variants
information (count: 69 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116551153	chr3:49590548-49590549	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs367839618	chr3:49590613-49590614	Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs376473651	chr3:49590622-49590623	Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs546179403	chr3:49590653-49590654	Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs113406477	chr3:49590664-49590665	Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs184700272	chr3:49590703-49590704	Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs528663685	chr3:49590713-49590714	Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs546757724	chr3:49590734-49590735	Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs142662811	chr3:49590756-49590757	Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs3811697	chr3:49590770-49590771	Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs373860633	chr3:49590771-49590772	Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs145225860	chr3:49590791-49590792	Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs150566911	chr3:49590806-49590807	Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs532990106	chr3:49590981-49590982	Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs60896713	chr3:49591015-49591016	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs536594060	chr3:49591113-49591114	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs566790067	chr3:49591138-49591139	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs139561719	chr3:49591286-49591287	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs78283024	chr3:49591296-49591297	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs567469978	chr3:49591309-49591310	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs535945615	chr3:49591326-49591327	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs537233200	chr3:49591327-49591328	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs554731892	chr3:49591340-49591341	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs575529140	chr3:49591377-49591378	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs546215856	chr3:49591437-49591438	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs557883332	chr3:49591517-49591518	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs573173916	chr3:49591534-49591535	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs115713947	chr3:49591539-49591540	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs561905975	chr3:49591551-49591552	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs529485840	chr3:49591605-49591606	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs150016882	chr3:49591610-49591611	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs562629001	chr3:49591614-49591615	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs556902564	chr3:49591679-49591680	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs551321237	chr3:49591692-49591693	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs566364492	chr3:49591731-49591732	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs576524975	chr3:49591748-49591749	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs527533008	chr3:49591777-49591778	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs549305440	chr3:49591782-49591783	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs545533497	chr3:49591793-49591794	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs566983329	chr3:49591825-49591826	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs557161588	chr3:49591863-49591864	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs78911737	chr3:49591874-49591875	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs539572935	chr3:49591931-49591932	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs558086035	chr3:49592146-49592147	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs572912064	chr3:49592152-49592153	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs540515633	chr3:49592227-49592228	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555686888	chr3:49592329-49592330	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs573873265	chr3:49592349-49592350	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs181372356	chr3:49592384-49592385	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs185787828	chr3:49592547-49592548	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49585200-49590600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:49585400-49590600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:49586000-49590800	Weak transcription	Right Ventricle	heart
4	chr3:49587400-49590600	Enhancers	HepG2	liver
5	chr3:49587600-49590600	Weak transcription	Right Atrium	heart
6	chr3:49587800-49590600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:49588000-49590600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:49588200-49590800	Weak transcription	HUVEC	blood vessel
9	chr3:49588200-49591000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:49588400-49590600	Weak transcription	Adipose Nuclei	Adipose
11	chr3:49588600-49590600	Weak transcription	Brain Substantia Nigra	brain
12	chr3:49588800-49591000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:49589000-49591200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:49589200-49590600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:49589400-49590800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:49589400-49590800	Weak transcription	Fetal Intestine Large	intestine
17	chr3:49589400-49591200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr3:49589600-49590600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:49589600-49591200	Enhancers	Primary hematopoietic stem cells	blood
20	chr3:49589800-49590600	Enhancers	Dnd41	blood
21	chr3:49589800-49590800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr3:49589800-49591000	Enhancers	Lung	lung
23	chr3:49590200-49590800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:49590200-49590800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr3:49590400-49590600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:49590400-49590600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr3:49590400-49590600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:49590400-49590600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:49590400-49590600	Enhancers	Brain Angular Gyrus	brain
30	chr3:49590400-49590600	Enhancers	Brain Anterior Caudate	brain
31	chr3:49590400-49590800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr3:49590400-49590800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:49590400-49590800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:49590400-49590800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:49590400-49590800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:49590400-49590800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr3:49590400-49590800	Enhancers	Stomach Smooth Muscle	stomach
38	chr3:49590400-49591000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr3:49590400-49591000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr3:49590400-49591000	Enhancers	Fetal Kidney	kidney
41	chr3:49590400-49591000	Enhancers	Fetal Muscle Leg	muscle
42	chr3:49590400-49591000	Enhancers	Pancreas	Pancrea
43	chr3:49590400-49591000	Enhancers	K562	blood
44	chr3:49590400-49591200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:49590400-49591400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:49590400-49591400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr3:49590600-49590800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr3:49590600-49590800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:49590600-49590800	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr3:49590600-49590800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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