Variant report

Variant	esv3438109
Chromosome Location	chr1:210110354-210112902
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	BACH1	chr1:210111563-210112084	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:210110958-210111334	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr1:210110931-210111193	GM12878	blood:	n/a	n/a
4	BATF	chr1:210110933-210111244	GM12878	blood:	n/a	n/a
5	BCLAF1	chr1:210111028-210111270	GM12878	blood:	n/a	chr1:210111130-210111139
6	BRCA1	chr1:210111414-210111537	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr1:210110630-210111234	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr1:210111093-210111172	HepG2	liver:	n/a	n/a
9	CEBPB	chr1:210110914-210111251	IMR90	lung:	n/a	n/a
10	CEBPB	chr1:210110490-210110509	A549	lung:	n/a	n/a
11	CHD1	chr1:210110861-210112436	H1-hESC	embryonic stem cell:	n/a	chr1:210111320-210111330
12	CHD2	chr1:210111539-210111663	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr1:210111880-210112030	HBMEC	blood vessel:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
14	CTCF	chr1:210111880-210112030	HRPEpiC	eye:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
15	CTCF	chr1:210111020-210111170	AG04450	lung:	n/a	n/a
16	CTCF	chr1:210111860-210112010	RPTEC	kidney:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
17	CTCF	chr1:210111880-210112030	WERI-Rb-1	eye:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
18	CTCF	chr1:210111520-210111670	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr1:210111900-210112050	NHEK	skin:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
20	CTCF	chr1:210111900-210112050	HPAF	blood vessel:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
21	CTCF	chr1:210111940-210112090	HCFaa	heart:	n/a	n/a
22	CTCF	chr1:210111840-210111990	HFF	foreskin:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
23	CTCF	chr1:210112080-210112230	AG04450	lung:	n/a	n/a
24	CTCF	chr1:210111800-210111950	HCPEpiC	choroid plexus:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
25	CTCF	chr1:210111840-210111990	AG04449	skin:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
26	CTCF	chr1:210111780-210111930	NHDF-neo	bronchial:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
27	CTCF	chr1:210111840-210111990	HBMEC	blood vessel:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
28	CTCF	chr1:210111820-210111970	AG04450	lung:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
29	CTCF	chr1:210111440-210111590	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr1:210111803-210111976	SK-N-SH_RA	brain:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
31	CTCF	chr1:210111489-210111607	Gliobla	brain:	n/a	n/a
32	CTCF	chr1:210111880-210112030	AG04449	skin:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
33	CTCF	chr1:210112240-210112390	AG09319	gingival:	n/a	n/a
34	CTCF	chr1:210111800-210111950	HA-sp	spinal cord:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
35	CTCF	chr1:210111920-210112070	AG09309	skin:	n/a	n/a
36	CTCF	chr1:210111900-210112050	HPF	lung:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
37	CTCF	chr1:210111776-210112001	H1-hESC	embryonic stem cell:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
38	CTCF	chr1:210111880-210112030	HMEC	breast:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
39	CTCF	chr1:210111839-210112041	Gliobla	brain:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
40	CTCF	chr1:210111840-210111990	HPAF	blood vessel:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
41	CTCF	chr1:210111820-210111970	RPTEC	kidney:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
42	CTCF	chr1:210111900-210112050	AG09319	gingival:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
43	CTCF	chr1:210111875-210112050	H1-hESC	embryonic stem cell:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
44	CTCF	chr1:210111860-210112010	BJ	skin:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
45	CTCF	chr1:210112140-210112290	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr1:210111840-210111990	HAc	cerebellar:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
47	CTCF	chr1:210111460-210111610	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr1:210111848-210112016	Fibrobl	skin:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
49	CTCF	chr1:210111880-210112030	AG09309	skin:	n/a	chr1:210111911-210111929 chr1:210111910-210111923 chr1:210111913-210111926
50	CTCF	chr1:210111467-210111496	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:210111162-210111212	PANC-1	pancreas:	n/a
2	chr1:210111403-210111453	GM06990	blood:	n/a
3	chr1:210111403-210111453	AG09309	skin:	n/a
4	chr1:210111561-210111611	T-47D	breast:	n/a
5	chr1:210111672-210111722	A549	lung:	n/a
6	chr1:210111672-210111722	HMEC	breast:	n/a
7	chr1:210110998-210111048	HCM	heart:	n/a
8	chr1:210111011-210111061	Hepatocyte	liver:	n/a
9	chr1:210110998-210111048	HCPEpiC	choroid plexus:	n/a
10	chr1:210111403-210111453	HRPEpiC	eye:	n/a
11	chr1:210111403-210111453	HEK293	kidney:	embryo
12	chr1:210110998-210111048	BJ	skin:	n/a
13	chr1:210111672-210111722	AG09319	gingival:	n/a
14	chr1:210111403-210111453	ovcar-3	ovarian:	n/a
15	chr1:210111561-210111611	PANC-1	pancreas:	n/a
16	chr1:210111028-210111078	ovcar-3	ovarian:	n/a
17	chr1:210112031-210112081	PFSK-1	brain:	n/a
18	chr1:210112031-210112081	BJ	skin:	n/a
19	chr1:210111561-210111611	HRCEpiC	kidney:	n/a
20	chr1:210110998-210111048	SK-N-MC	brain:	n/a
21	chr1:210110998-210111048	AG04449	skin:	fetal
22	chr1:210111057-210111107	CMK	blood:	n/a
23	chr1:210111403-210111453	HCT-116	colon:	n/a
24	chr1:210111561-210111611	MCF-7	breast:	n/a
25	chr1:210112031-210112081	NT2-D1	testis:	n/a
26	chr1:210111561-210111611	RPTEC	kidney:	n/a
27	chr1:210111057-210111107	GM19239	blood:	n/a
28	chr1:210112031-210112081	H1-hESC	embryonic stem cell:	embryo
29	chr1:210111057-210111107	GM12878	blood:	n/a
30	chr1:210111028-210111078	HEEpiC	esophagus:	n/a
31	chr1:210111162-210111212	T-47D	breast:	n/a
32	chr1:210112031-210112081	HRCEpiC	kidney:	n/a
33	chr1:210112031-210112081	IMR90	lung:	fetal
34	chr1:210111672-210111722	NB4	blood:	n/a
35	chr1:210110998-210111048	MCF-7	breast:	n/a
36	chr1:210111672-210111722	HCF	heart:	n/a
37	chr1:210111011-210111061	Jurkat	blood:	n/a
38	chr1:210111028-210111078	ProgFib	skin:	n/a
39	chr1:210112031-210112081	CMK	blood:	n/a
40	chr1:210110998-210111048	HUVEC	blood vessel:	n/a
41	chr1:210111011-210111061	BE2_C	brain:	n/a
42	chr1:210111028-210111078	PrEC	prostate:	n/a
43	chr1:210111028-210111078	A549	lung:	n/a
44	chr1:210111403-210111453	ECC-1	luminal epithelium:	n/a
45	chr1:210111057-210111107	GM12891	blood:	n/a
46	chr1:210111672-210111722	SK-N-SH	brain:	n/a
47	chr1:210112031-210112081	AG04449	skin:	fetal
48	chr1:210110998-210111048	NHBE	bronchial:	n/a
49	chr1:210111011-210111061	HMEC	breast:	n/a
50	chr1:210111162-210111212	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210111478..210111978-chr11:236018..236738,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IRF6-1	chr1:210107873-210111294	NONHSAT009248

Variant related genes	Relation type
SYT14	TF binding region
SYT14	CpG island
ENSG00000142082	chromatin interactions
ENSG00000185627	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11801400	chr1:210110377-210110378	Enhancers Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139025735	chr1:210110398-210110399	Enhancers Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs536259890	chr1:210110419-210110420	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs147449453	chr1:210110464-210110465	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs555197471	chr1:210110468-210110469	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs573629570	chr1:210110514-210110515	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs9429829	chr1:210110529-210110530	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs9429830	chr1:210110537-210110538	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563674927	chr1:210110645-210110646	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs530716192	chr1:210110652-210110653	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs550467500	chr1:210110727-210110728	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs193163628	chr1:210110800-210110801	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs144628771	chr1:210110881-210110882	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs372739945	chr1:210110882-210110883	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs200999731	chr1:210110904-210110905	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs6658933	chr1:210110905-210110906	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs111444382	chr1:210110906-210110907	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs74871238	chr1:210110907-210110908	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs75526232	chr1:210110909-210110910	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs565882079	chr1:210110911-210110912	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs201663612	chr1:210110913-210110914	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs140639342	chr1:210110923-210110924	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs55710218	chr1:210110930-210110931	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs557961374	chr1:210111005-210111006	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs570010629	chr1:210111110-210111111	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs371907607	chr1:210111144-210111145	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs537332189	chr1:210111164-210111165	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs185421067	chr1:210111171-210111172	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs190718057	chr1:210111179-210111180	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs375680891	chr1:210111180-210111181	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs114837924	chr1:210111201-210111202	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs6692116	chr1:210111242-210111243	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372843920	chr1:210111308-210111309	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs577305834	chr1:210111325-210111326	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs545228075	chr1:210111411-210111412	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs139994721	chr1:210111493-210111494	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs531149636	chr1:210111537-210111538	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs542912482	chr1:210111546-210111547	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs200959890	chr1:210111574-210111575	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs368545452	chr1:210111597-210111598	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs370896632	chr1:210111632-210111633	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs375718422	chr1:210111638-210111639	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs368639948	chr1:210111647-210111648	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs546957059	chr1:210111659-210111660	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs371639676	chr1:210111663-210111664	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs376288496	chr1:210111672-210111673	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs565263445	chr1:210111679-210111680	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs532646839	chr1:210111723-210111724	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs12025114	chr1:210111733-210111734	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569825209	chr1:210111736-210111737	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210110200-210110400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:210110200-210110400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:210110200-210110600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:210110200-210112400	Active TSS	Brain Anterior Caudate	brain
5	chr1:210110200-210112800	Active TSS	Brain Angular Gyrus	brain
6	chr1:210110400-210110600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:210110400-210110600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:210110400-210110600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:210110400-210110600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr1:210110400-210110600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:210110400-210110600	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:210110400-210110600	Active TSS	Brain Hippocampus Middle	brain
13	chr1:210110400-210110600	Enhancers	HMEC	breast
14	chr1:210110400-210110800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:210110400-210111200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:210110400-210112400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:210110400-210112800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr1:210110400-210112800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:210110600-210110800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:210110600-210110800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:210110600-210110800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:210110600-210110800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr1:210110600-210110800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr1:210110600-210110800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:210110600-210110800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:210110600-210110800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:210110600-210110800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr1:210110600-210110800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:210110600-210110800	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr1:210110600-210110800	Enhancers	Brain Substantia Nigra	brain
31	chr1:210110600-210110800	Enhancers	HSMM	muscle
32	chr1:210110600-210110800	Bivalent Enhancer	HUVEC	blood vessel
33	chr1:210110600-210110800	Active TSS	NHEK	skin
34	chr1:210110600-210111000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:210110600-210111000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:210110600-210111000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:210110600-210111000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:210110600-210111000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr1:210110600-210111000	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr1:210110600-210111000	Flanking Active TSS	Fetal Brain Male	brain
41	chr1:210110600-210111000	Flanking Active TSS	HMEC	breast
42	chr1:210110600-210111000	Flanking Active TSS	NH-A	brain
43	chr1:210110600-210111000	Flanking Active TSS	NHDF-Ad	bronchial
44	chr1:210110600-210111200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr1:210110600-210111200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:210110600-210111600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:210110600-210111600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:210110600-210112000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr1:210110600-210112000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:210110600-210112000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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