Variant report

Variant	esv3356061
Chromosome Location	chr1:94712189-94714737
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	chr1:94713342-94713476	HepG2	liver:	n/a	n/a
2	BACH1	chr1:94712282-94712482	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:94712775-94713435	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr1:94713381-94713470	K562	blood:	n/a	chr1:94713431-94713447
5	CCNT2	chr1:94712928-94713523	K562	blood:	n/a	chr1:94713329-94713338 chr1:94713374-94713383
6	CEBPB	chr1:94713255-94713444	Hela-S3	cervix:	n/a	n/a
7	CHD1	chr1:94712476-94713714	IMR90	lung:	n/a	n/a
8	CHD2	chr1:94713074-94713538	Hela-S3	cervix:	n/a	n/a
9	CREB1	chr1:94712578-94713714	HepG2	liver:	n/a	n/a
10	CREB1	chr1:94713013-94713516	A549	lung:	n/a	n/a
11	CREB1	chr1:94713163-94713607	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr1:94713182-94713706	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTBP2	chr1:94712518-94713479	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr1:94713520-94713670	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr1:94712980-94713130	AG04449	skin:	n/a	n/a
16	CTCF	chr1:94713360-94713460	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr1:94713156-94713161	NHEK	skin:	n/a	n/a
18	CTCF	chr1:94713096-94713196	Fibrobl	skin:	n/a	n/a
19	CTCF	chr1:94712380-94712530	AG09319	gingival:	n/a	n/a
20	CTCF	chr1:94712340-94712490	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr1:94713049-94713146	NHEK	skin:	n/a	n/a
22	CTCF	chr1:94712440-94712590	AG09319	gingival:	n/a	n/a
23	CTCF	chr1:94713088-94713094	Fibrobl	skin:	n/a	n/a
24	CTCF	chr1:94713500-94713650	HepG2	liver:	n/a	n/a
25	CTCF	chr1:94712360-94712510	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr1:94712600-94712750	AG09319	gingival:	n/a	n/a
27	CTCF	chr1:94712500-94712650	HBMEC	blood vessel:	n/a	n/a
28	E2F4	chr1:94713172-94713662	MCF10A-Er-Src	breast:	n/a	chr1:94713374-94713383 chr1:94713403-94713413
29	E2F4	chr1:94712563-94712713	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F6	chr1:94713288-94713455	K562	blood:	n/a	chr1:94713374-94713383 chr1:94713403-94713413
31	E2F6	chr1:94713187-94713555	K562	blood:	n/a	chr1:94713374-94713383 chr1:94713403-94713413
32	EGR1	chr1:94712959-94713499	H1-hESC	embryonic stem cell:	n/a	chr1:94713373-94713383 chr1:94713047-94713056 chr1:94713201-94713214 chr1:94713361-94713371
33	EP300	chr1:94712881-94713157	HepG2	liver:	n/a	chr1:94712933-94712949 chr1:94713045-94713054
34	EP300	chr1:94712958-94713683	SK-N-SH	brain:	n/a	chr1:94713313-94713329 chr1:94713367-94713383 chr1:94713282-94713291 chr1:94713045-94713054 chr1:94713200-94713209 chr1:94713316-94713325 chr1:94713363-94713379
35	EP300	chr1:94712883-94713777	ECC-1	luminal epithelium:	n/a	chr1:94713313-94713329 chr1:94713367-94713383 chr1:94712933-94712949 chr1:94713282-94713291 chr1:94713045-94713054 chr1:94713200-94713209 chr1:94713316-94713325 chr1:94713363-94713379
36	EP300	chr1:94713132-94713498	T-47D	breast:	n/a	chr1:94713313-94713329 chr1:94713367-94713383 chr1:94713282-94713291 chr1:94713200-94713209 chr1:94713316-94713325 chr1:94713363-94713379
37	FOS	chr1:94714548-94715022	MCF10A-Er-Src	breast:	n/a	chr1:94714701-94714711
38	FOS	chr1:94713176-94713376	HUVEC	blood vessel:	n/a	n/a
39	FOS	chr1:94714628-94714856	MCF10A-Er-Src	breast:	n/a	chr1:94714701-94714711
40	FOS	chr1:94712636-94712660	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr1:94714645-94714754	MCF10A-Er-Src	breast:	n/a	chr1:94714701-94714711
42	FOS	chr1:94714538-94714892	MCF10A-Er-Src	breast:	n/a	chr1:94714701-94714711
43	FOSL1	chr1:94712862-94713499	H1-hESC	embryonic stem cell:	n/a	chr1:94713115-94713123 chr1:94713373-94713382
44	FOXA1	chr1:94712424-94712836	HepG2	liver:	n/a	n/a
45	FOXA2	chr1:94712466-94712776	HepG2	liver:	n/a	n/a
46	FOXP2	chr1:94712967-94713430	PFSK-1	brain:	n/a	n/a
47	GTF2F1	chr1:94712578-94712693	H1-hESC	embryonic stem cell:	n/a	n/a
48	HA-E2F1	chr1:94712767-94713619	Hela-S3	cervix:	n/a	chr1:94713374-94713383 chr1:94713403-94713413
49	HA-E2F1	chr1:94712676-94713779	MCF-7	breast:	n/a	chr1:94713374-94713383 chr1:94713403-94713413
50	HCFC1	chr1:94713422-94713455	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:94713323-94713373	K562	blood:	n/a
2	chr1:94713218-94713268	Caco-2	colon:	n/a
3	chr1:94712750-94712800	GM12878	blood:	n/a
4	chr1:94712239-94712289	Hela-S3	cervix:	n/a
5	chr1:94713316-94713366	MCF10A-Er-Src	breast:	n/a
6	chr1:94713316-94713366	GM19239	blood:	n/a
7	chr1:94713092-94713142	HepG2	liver:	n/a
8	chr1:94713316-94713366	HAEpiC	amniotic membrane:	n/a
9	chr1:94713323-94713373	HIPEpiC	eye:	n/a
10	chr1:94713316-94713366	GM12892	blood:	n/a
11	chr1:94713092-94713142	K562	blood:	n/a
12	chr1:94712239-94712289	HNPCEpiC	eye:	n/a
13	chr1:94713323-94713373	HEK293	kidney:	embryo
14	chr1:94713649-94713699	GM12878	blood:	n/a
15	chr1:94713218-94713268	GM06990	blood:	n/a
16	chr1:94713323-94713373	LNCaP	prostate:	n/a
17	chr1:94713092-94713142	HEK293	kidney:	embryo
18	chr1:94713229-94713279	HCPEpiC	choroid plexus:	n/a
19	chr1:94713323-94713373	Jurkat	blood:	n/a
20	chr1:94713649-94713699	SK-N-MC	brain:	n/a
21	chr1:94713092-94713142	HIPEpiC	eye:	n/a
22	chr1:94713316-94713366	SK-N-SH	brain:	n/a
23	chr1:94713649-94713699	NHBE	bronchial:	n/a
24	chr1:94713229-94713279	GM19239	blood:	n/a
25	chr1:94712750-94712800	BE2_C	brain:	n/a
26	chr1:94713092-94713142	H1-hESC	embryonic stem cell:	embryo
27	chr1:94713092-94713142	AoSMC	blood vessel:	n/a
28	chr1:94713218-94713268	MCF10A-Er-Src	breast:	n/a
29	chr1:94712239-94712289	AG04450	lung:	fetal
30	chr1:94713229-94713279	MCF-7	breast:	n/a
31	chr1:94713092-94713142	NH-A	brain:	n/a
32	chr1:94713218-94713268	SKMC	muscle:	n/a
33	chr1:94713649-94713699	PrEC	prostate:	n/a
34	chr1:94713092-94713142	AG09309	skin:	n/a
35	chr1:94712750-94712800	SK-N-SH_RA	brain:	n/a
36	chr1:94713092-94713142	U87	brain:	n/a
37	chr1:94713323-94713373	ovcar-3	ovarian:	n/a
38	chr1:94713316-94713366	HMEC	breast:	n/a
39	chr1:94713323-94713373	HRE	kidney:	n/a
40	chr1:94713092-94713142	GM12892	blood:	n/a
41	chr1:94713316-94713366	MCF-7	breast:	n/a
42	chr1:94713218-94713268	AG04450	lung:	fetal
43	chr1:94713092-94713142	HRPEpiC	eye:	n/a
44	chr1:94712239-94712289	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:94713229-94713279	SK-N-SH_RA	brain:	n/a
46	chr1:94713218-94713268	ECC-1	luminal epithelium:	n/a
47	chr1:94712239-94712289	MCF10A-Er-Src	breast:	n/a
48	chr1:94713316-94713366	HEEpiC	esophagus:	n/a
49	chr1:94712750-94712800	U87	brain:	n/a
50	chr1:94712750-94712800	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94702693..94704717-chr1:94713468..94715091,2	K562	blood:
2	chr1:94701840..94705805-chr1:94711160..94713439,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCD3-3	chr1:94713464-94713595	ENSG00000231363
2	lnc-ABCD3-3	chr1:94713489-94713595	NONHSAT004578

Variant related genes	Relation type
ENSG00000231363	TF binding region
ENSG00000231363	CpG island
ENSG00000137962	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577543453	chr1:94712205-94712206	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs534999950	chr1:94712211-94712212	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs540264181	chr1:94712222-94712223	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372082061	chr1:94712280-94712281	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs553893035	chr1:94712289-94712290	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs12096080	chr1:94712308-94712309	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs72964308	chr1:94712322-94712323	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs562721050	chr1:94712336-94712337	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs531481062	chr1:94712337-94712338	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs61784299	chr1:94712364-94712365	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183079201	chr1:94712383-94712384	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375974432	chr1:94712397-94712398	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543567097	chr1:94712446-94712447	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs527670764	chr1:94712454-94712455	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs77397704	chr1:94712463-94712464	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs567375989	chr1:94712495-94712496	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372589964	chr1:94712525-94712526	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376103951	chr1:94712540-94712541	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs557072196	chr1:94712567-94712568	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs576987831	chr1:94712579-94712580	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs143197102	chr1:94712591-94712592	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs546045022	chr1:94712609-94712610	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs570252507	chr1:94712645-94712646	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs115089979	chr1:94712647-94712648	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs559186544	chr1:94712673-94712674	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs186569737	chr1:94712674-94712675	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs191201837	chr1:94712678-94712679	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs553803383	chr1:94712746-94712747	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573745876	chr1:94712751-94712752	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs145610481	chr1:94712775-94712776	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs556014922	chr1:94712855-94712856	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs112996201	chr1:94712863-94712864	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs6703311	chr1:94712903-94712904	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs565183827	chr1:94712905-94712906	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs563640691	chr1:94712915-94712916	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs371613530	chr1:94712927-94712928	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs540987362	chr1:94712930-94712931	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs560961939	chr1:94712948-94712949	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs530106630	chr1:94713016-94713017	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs550225717	chr1:94713036-94713037	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs570085301	chr1:94713057-94713058	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs532727780	chr1:94713061-94713062	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs552540290	chr1:94713083-94713084	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs1756244	chr1:94713091-94713092	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs6690762	chr1:94713101-94713102	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs535343166	chr1:94713171-94713172	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs547390486	chr1:94713244-94713245	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs541424766	chr1:94713247-94713248	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs568949677	chr1:94713259-94713260	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374566354	chr1:94713335-94713336	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Glioblastoma multiforme	21510904	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94709000-94712200	Enhancers	Liver	Liver
2	chr1:94709800-94712400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:94709800-94712800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:94709800-94713600	Active TSS	Right Atrium	heart
5	chr1:94710000-94713600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:94710600-94712200	Active TSS	Adipose Nuclei	Adipose
7	chr1:94710600-94712200	Enhancers	HepG2	liver
8	chr1:94711000-94712400	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr1:94711000-94713400	Active TSS	Muscle Satellite Cultured Cells	--
10	chr1:94711000-94713800	Active TSS	Psoas Muscle	Psoas
11	chr1:94711200-94712200	Active TSS	Fetal Muscle Leg	muscle
12	chr1:94711200-94713800	Active TSS	Left Ventricle	heart
13	chr1:94711200-94713800	Active TSS	Right Ventricle	heart
14	chr1:94711400-94712200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr1:94711400-94712200	Active TSS	Fetal Stomach	stomach
16	chr1:94711400-94712200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:94711400-94713000	Bivalent/Poised TSS	Fetal Kidney	kidney
18	chr1:94711400-94713600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:94711600-94712200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:94711600-94712200	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr1:94711600-94712200	Active TSS	HSMMtube	muscle
22	chr1:94711600-94713400	Active TSS	NHEK	skin
23	chr1:94711600-94713600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:94711600-94713600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:94711600-94713600	Active TSS	A549	lung
26	chr1:94711600-94713600	Active TSS	NHDF-Ad	bronchial
27	chr1:94711600-94713600	Active TSS	Osteobl	bone
28	chr1:94711800-94712200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr1:94711800-94712200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:94711800-94712200	Active TSS	NHLF	lung
31	chr1:94711800-94712800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:94711800-94713200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:94711800-94713400	Active TSS	HMEC	breast
34	chr1:94711800-94713400	Active TSS	HUVEC	blood vessel
35	chr1:94711800-94713400	Active TSS	NH-A	brain
36	chr1:94711800-94713600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:94711800-94713600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:94711800-94713800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:94712000-94712200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:94712000-94712200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr1:94712000-94712200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:94712000-94712200	Enhancers	Pancreas	Pancrea
43	chr1:94712000-94712400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr1:94712000-94712400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
45	chr1:94712000-94713600	Active TSS	HSMM	muscle
46	chr1:94712000-94714000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:94712000-94714000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr1:94712200-94712400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr1:94712200-94712400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr1:94712200-94712400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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