Variant report

Variant	esv3374389
Chromosome Location	chr22:30782177-30784725
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	chr22:30783475-30783581	K562	blood:	n/a	n/a
2	ATF2	chr22:30783386-30783693	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr22:30783479-30783663	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr22:30782992-30783100	K562	blood:	n/a	n/a
5	BHLHE40	chr22:30783441-30783635	K562	blood:	n/a	n/a
6	BRCA1	chr22:30783479-30783531	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chr22:30782981-30783651	K562	blood:	n/a	n/a
8	CEBPB	chr22:30783467-30783667	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr22:30782441-30783911	IMR90	lung:	n/a	n/a
10	CHD2	chr22:30783496-30783679	K562	blood:	n/a	n/a
11	CHD2	chr22:30783518-30783620	HepG2	liver:	n/a	n/a
12	CHD2	chr22:30783024-30783733	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr22:30783438-30783751	H1-hESC	embryonic stem cell:	n/a	n/a
14	CREB1	chr22:30782930-30783780	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr22:30782881-30783585	A549	lung:	n/a	n/a
16	CTCF	chr22:30783420-30783570	WERI-Rb-1	eye:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
17	CTCF	chr22:30783709-30783725	GM12892	blood:	n/a	n/a
18	CTCF	chr22:30782920-30783070	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr22:30783382-30783847	GM10266	blood:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783817-30783835 chr22:30783492-30783502
20	CTCF	chr22:30783440-30783590	GM12865	blood:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
21	CTCF	chr22:30783460-30783610	HPF	lung:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
22	CTCF	chr22:30782940-30783090	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr22:30783500-30783650	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr22:30783324-30783896	MCF-7	breast:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783817-30783835 chr22:30783492-30783502
25	CTCF	chr22:30783400-30783550	BE2_C	brain:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
26	CTCF	chr22:30782860-30783010	GM12865	blood:	n/a	n/a
27	CTCF	chr22:30783420-30783570	MCF-7	breast:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
28	CTCF	chr22:30782900-30783050	HEK293	kidney:	n/a	n/a
29	CTCF	chr22:30783420-30783570	A549	lung:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
30	CTCF	chr22:30783440-30783590	RPTEC	kidney:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
31	CTCF	chr22:30783363-30784017	HCT-116	colon:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783817-30783835 chr22:30783492-30783502
32	CTCF	chr22:30782920-30783070	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr22:30783440-30783590	AG10803	skin:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
34	CTCF	chr22:30783361-30783677	GM19238	blood:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
35	CTCF	chr22:30782934-30783135	HepG2	liver:	n/a	n/a
36	CTCF	chr22:30783460-30783610	AoAF	blood vessel:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
37	CTCF	chr22:30783400-30783550	AG04450	lung:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
38	CTCF	chr22:30783338-30783726	H1-hESC	embryonic stem cell:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
39	CTCF	chr22:30782800-30782950	GM06990	blood:	n/a	n/a
40	CTCF	chr22:30783005-30783071	HepG2	liver:	n/a	n/a
41	CTCF	chr22:30783761-30783795	NHEK	skin:	n/a	n/a
42	CTCF	chr22:30783400-30783550	NB4	blood:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
43	CTCF	chr22:30783336-30783779	HCT-116	colon:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
44	CTCF	chr22:30783378-30783695	GM12878	blood:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
45	CTCF	chr22:30782900-30783050	AG10803	skin:	n/a	n/a
46	CTCF	chr22:30783739-30783834	GM12878	blood:	n/a	chr22:30783820-30783833
47	CTCF	chr22:30783000-30783150	GM12866	blood:	n/a	n/a
48	CTCF	chr22:30783460-30783610	Hela-S3	cervix:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
49	CTCF	chr22:30782940-30783090	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr22:30783480-30783630	Hela-S3	cervix:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30782804-30782854	AG09319	gingival:	n/a
2	chr22:30782804-30782854	AG09319	gingival:	n/a
3	chr22:30782804-30782854	NB4	blood:	n/a
4	chr22:30783486-30783536	ECC-1	luminal epithelium:	n/a
5	chr22:30783793-30783843	PFSK-1	brain:	n/a
6	chr22:30783371-30783421	AG04450	lung:	fetal
7	chr22:30783362-30783412	AG10803	skin:	n/a
8	chr22:30783944-30783994	HAEpiC	amniotic membrane:	n/a
9	chr22:30783371-30783421	HRE	kidney:	n/a
10	chr22:30783470-30783520	Jurkat	blood:	n/a
11	chr22:30783944-30783994	Jurkat	blood:	n/a
12	chr22:30782804-30782854	Jurkat	blood:	n/a
13	chr22:30783944-30783994	SKMC	muscle:	n/a
14	chr22:30783470-30783520	NH-A	brain:	n/a
15	chr22:30783470-30783520	T-47D	breast:	n/a
16	chr22:30783074-30783124	PFSK-1	brain:	n/a
17	chr22:30783486-30783536	HCPEpiC	choroid plexus:	n/a
18	chr22:30783371-30783421	A549	lung:	n/a
19	chr22:30783944-30783994	MCF10A-Er-Src	breast:	n/a
20	chr22:30783371-30783421	H1-hESC	embryonic stem cell:	embryo
21	chr22:30783486-30783536	HepG2	liver:	n/a
22	chr22:30783486-30783536	BJ	skin:	n/a
23	chr22:30783486-30783536	AG10803	skin:	n/a
24	chr22:30783371-30783421	NHDF-neo	bronchial:	n/a
25	chr22:30783737-30783787	AG10803	skin:	n/a
26	chr22:30782804-30782854	HCF	heart:	n/a
27	chr22:30783793-30783843	AoSMC	blood vessel:	n/a
28	chr22:30783362-30783412	SK-N-MC	brain:	n/a
29	chr22:30783362-30783412	HNPCEpiC	eye:	n/a
30	chr22:30783371-30783421	SK-N-SH	brain:	n/a
31	chr22:30783470-30783520	HMEC	breast:	n/a
32	chr22:30783944-30783994	HCM	heart:	n/a
33	chr22:30783486-30783536	NH-A	brain:	n/a
34	chr22:30783486-30783536	HUVEC	blood vessel:	n/a
35	chr22:30783362-30783412	HMEC	breast:	n/a
36	chr22:30783470-30783520	HepG2	liver:	n/a
37	chr22:30783074-30783124	CMK	blood:	n/a
38	chr22:30783737-30783787	BE2_C	brain:	n/a
39	chr22:30783793-30783843	NHDF-neo	bronchial:	n/a
40	chr22:30783737-30783787	AG04450	lung:	fetal
41	chr22:30783362-30783412	AG09319	gingival:	n/a
42	chr22:30783074-30783124	HRE	kidney:	n/a
43	chr22:30783737-30783787	ProgFib	skin:	n/a
44	chr22:30783470-30783520	IMR90	lung:	fetal
45	chr22:30783371-30783421	LNCaP	prostate:	n/a
46	chr22:30783793-30783843	HCM	heart:	n/a
47	chr22:30783362-30783412	AG04449	skin:	fetal
48	chr22:30783486-30783536	HAEpiC	amniotic membrane:	n/a
49	chr22:30783371-30783421	HRPEpiC	eye:	n/a
50	chr22:30783371-30783421	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30780810..30782737-chr22:30819771..30822166,2	MCF-7	breast:
2	chr22:30683553..30684657-chr22:30783449..30783965,3	K562	blood:
3	chr22:30684150..30686115-chr22:30783000..30785215,3	K562	blood:
4	chr22:30781850..30784098-chr22:30791520..30793035,3	MCF-7	breast:
5	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
6	chr22:30683315..30684641-chr22:30783196..30784353,5	MCF-7	breast:
7	chr22:30681125..30685749-chr22:30780011..30785695,7	MCF-7	breast:
8	chr22:30783511..30785819-chr22:30839208..30841180,2	K562	blood:
9	chr22:30751699..30753468-chr22:30782814..30784590,2	K562	blood:
10	chr22:30780386..30782265-chr22:30815840..30818586,2	MCF-7	breast:
11	chr22:30768241..30771846-chr22:30779941..30783662,3	MCF-7	breast:
12	chr22:30659097..30662032-chr22:30782521..30784593,3	MCF-7	breast:
13	chr22:30775755..30777572-chr22:30777818..30782197,3	K562	blood:
14	chr22:30683337..30684429-chr22:30783040..30783917,8	MCF-7	breast:
15	chr22:30783942..30787268-chr22:30794272..30798522,4	K562	blood:
16	chr22:30658407..30662211-chr22:30782039..30784785,6	MCF-7	breast:
17	chr22:30682210..30683992-chr22:30781064..30783506,2	K562	blood:
18	chr22:30683076..30686857-chr22:30780059..30784684,12	MCF-7	breast:
19	chr22:30682486..30684766-chr22:30780472..30782448,3	K562	blood:
20	chr22:30783942..30788734-chr22:30793549..30798623,5	K562	blood:
21	chr22:30660277..30662001-chr22:30780639..30782477,2	MCF-7	breast:
22	chr22:30783066..30785199-chr22:30819529..30822458,2	K562	blood:

Variant related genes	Relation type
RNF215	TF binding region
RNF215	CpG island
ENSG00000099999	chromatin interactions
ENSG00000222915	chromatin interactions
ENSG00000099992	chromatin interactions
ENSG00000099985	chromatin interactions
ENSG00000273350	chromatin interactions
ENSG00000100003	chromatin interactions
ENSG00000187860	chromatin interactions
ENSG00000272689	chromatin interactions
ENSG00000239282	chromatin interactions
ENSG00000242114	chromatin interactions
ENSG00000099995	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56094301	chr22:30782228-30782229	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537500385	chr22:30782241-30782242	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs565797160	chr22:30782255-30782256	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs536252486	chr22:30782315-30782316	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs554640947	chr22:30782339-30782340	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs191214007	chr22:30782342-30782343	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs73390212	chr22:30782361-30782362	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs142383299	chr22:30782431-30782432	Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs56222115	chr22:30782439-30782440	Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs531982991	chr22:30782444-30782445	Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs541166013	chr22:30782490-30782491	Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs8142835	chr22:30782538-30782539	Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs370451214	chr22:30782584-30782585	Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs202014633	chr22:30782589-30782590	Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs373662243	chr22:30782602-30782603	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs541556713	chr22:30782634-30782635	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs368123185	chr22:30782636-30782637	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs201180819	chr22:30782672-30782673	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs144607117	chr22:30782676-30782677	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs138508585	chr22:30782689-30782690	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs200044458	chr22:30782709-30782710	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs143078843	chr22:30782722-30782723	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs12171261	chr22:30782731-30782732	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550183806	chr22:30782792-30782793	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs565519087	chr22:30782803-30782804	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs532579299	chr22:30782811-30782812	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs547541362	chr22:30782905-30782906	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs565860870	chr22:30782906-30782907	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs536313645	chr22:30782919-30782920	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs151298437	chr22:30782930-30782931	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs569931142	chr22:30782956-30782957	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs111267155	chr22:30783010-30783011	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs537401342	chr22:30783266-30783267	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs558566770	chr22:30783355-30783356	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs577165983	chr22:30783377-30783378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs577919640	chr22:30783387-30783388	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs534812556	chr22:30783412-30783413	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs5753116	chr22:30783525-30783526	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs5753117	chr22:30783551-30783552	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs541929983	chr22:30783557-30783558	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs563322926	chr22:30783568-30783569	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs545364398	chr22:30783591-30783592	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs575127702	chr22:30783623-30783624	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs556134870	chr22:30783626-30783627	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs117174875	chr22:30783659-30783660	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs570387739	chr22:30783670-30783671	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs533063170	chr22:30783743-30783744	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs532639824	chr22:30783760-30783761	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs547600519	chr22:30783785-30783786	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs559504725	chr22:30783801-30783802	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:565 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30753200-30782200	Weak transcription	Stomach Mucosa	stomach
2	chr22:30753600-30782200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr22:30753600-30782400	Weak transcription	Primary T cells from cord blood	blood
4	chr22:30759600-30782200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr22:30762000-30782400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr22:30764000-30782200	Weak transcription	Right Atrium	heart
7	chr22:30766400-30782200	Weak transcription	Fetal Kidney	kidney
8	chr22:30769200-30782200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:30769200-30782200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr22:30772000-30783000	Weak transcription	Small Intestine	intestine
11	chr22:30773800-30782200	Weak transcription	HMEC	breast
12	chr22:30774200-30782200	Weak transcription	Brain Substantia Nigra	brain
13	chr22:30774200-30782400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr22:30774200-30782400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:30774400-30782400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr22:30775600-30782200	Weak transcription	Fetal Lung	lung
17	chr22:30776000-30782200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:30776200-30782200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr22:30776200-30782200	Weak transcription	GM12878-XiMat	blood
20	chr22:30776400-30782200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr22:30776600-30782400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr22:30776800-30782200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr22:30777000-30782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr22:30777800-30782400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr22:30778000-30782200	Weak transcription	Esophagus	oesophagus
26	chr22:30778000-30782400	Weak transcription	Aorta	Aorta
27	chr22:30779200-30782200	Weak transcription	HUVEC	blood vessel
28	chr22:30779400-30782400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:30779600-30782200	Weak transcription	Right Ventricle	heart
30	chr22:30779600-30782400	Weak transcription	Left Ventricle	heart
31	chr22:30779800-30782200	Weak transcription	Gastric	stomach
32	chr22:30780000-30782200	Weak transcription	Fetal Heart	heart
33	chr22:30780200-30782200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:30780200-30782200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr22:30780200-30782200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr22:30780200-30782200	Weak transcription	HSMM	muscle
37	chr22:30780400-30782200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr22:30780400-30782200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr22:30780400-30782200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr22:30780400-30782200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:30780400-30782200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:30780400-30782200	Weak transcription	Fetal Intestine Large	intestine
43	chr22:30780400-30782200	Weak transcription	HSMMtube	muscle
44	chr22:30780400-30782200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr22:30780400-30782200	Weak transcription	NHLF	lung
46	chr22:30780400-30782400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:30780400-30782400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr22:30780400-30782400	Weak transcription	NHEK	skin
49	chr22:30780600-30782200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr22:30780600-30782200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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