Variant report

Variant	esv3438284
Chromosome Location	chr22:28189802-28201700
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	chr22:28198169-28198614	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr22:28200605-28200992	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr22:28197363-28197381	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr22:28200159-28200379	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr22:28200728-28201051	HepG2	liver:	n/a	chr22:28200919-28200935
6	BHLHE40	chr22:28200714-28201010	K562	blood:	n/a	chr22:28200919-28200935
7	BRCA1	chr22:28200767-28200967	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr22:28198317-28198651	Hela-S3	cervix:	n/a	n/a
9	CCNT2	chr22:28200705-28201000	K562	blood:	n/a	n/a
10	CEBPB	chr22:28200769-28200958	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr22:28197375-28198521	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr22:28196462-28196745	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr22:28195697-28195952	Hela-S3	cervix:	n/a	n/a
14	CHD1	chr22:28197345-28197390	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr22:28200777-28200964	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr22:28200704-28200978	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr22:28195301-28195503	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr22:28197901-28198244	H1-hESC	embryonic stem cell:	n/a	chr22:28198092-28198102
19	CHD2	chr22:28195775-28198540	Hela-S3	cervix:	n/a	chr22:28197287-28197294 chr22:28197149-28197159 chr22:28197553-28197563 chr22:28198092-28198102 chr22:28197601-28197611
20	CTBP2	chr22:28191810-28196248	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTBP2	chr22:28190976-28191470	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTBP2	chr22:28196481-28198553	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr22:28197273-28197459	IMR90	lung:	n/a	chr22:28197352-28197365
24	CTCF	chr22:28200840-28200990	GM12865	blood:	n/a	chr22:28200877-28200895 chr22:28200878-28200894
25	CTCF	chr22:28201161-28201297	GM12891	blood:	n/a	n/a
26	CTCF	chr22:28200720-28200870	HAc	cerebellar:	n/a	n/a
27	CTCF	chr22:28198140-28198290	GM12871	blood:	n/a	n/a
28	CTCF	chr22:28201140-28201290	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr22:28200820-28200970	HEK293	kidney:	n/a	chr22:28200877-28200895 chr22:28200878-28200894
30	CTCF	chr22:28198160-28198310	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr22:28197280-28197430	HCFaa	heart:	n/a	chr22:28197352-28197365
32	CTCF	chr22:28200820-28200970	HCFaa	heart:	n/a	chr22:28200877-28200895 chr22:28200878-28200894
33	CTCF	chr22:28200820-28200970	AG10803	skin:	n/a	chr22:28200877-28200895 chr22:28200878-28200894
34	CTCF	chr22:28197300-28197450	SK-N-SH_RA	brain:	n/a	chr22:28197352-28197365
35	CTCF	chr22:28200533-28200616	GM19239	blood:	n/a	n/a
36	CTCF	chr22:28200280-28200430	AG04450	lung:	n/a	n/a
37	CTCF	chr22:28200820-28200970	HRE	kidney:	n/a	chr22:28200877-28200895 chr22:28200878-28200894
38	CTCF	chr22:28200766-28201028	LNCaP	prostate:	n/a	chr22:28200877-28200895 chr22:28200878-28200894
39	CTCF	chr22:28200820-28200970	AG04449	skin:	n/a	chr22:28200877-28200895 chr22:28200878-28200894
40	CTCF	chr22:28200820-28200970	SK-N-SH_RA	brain:	n/a	chr22:28200877-28200895 chr22:28200878-28200894
41	CTCF	chr22:28200780-28200930	GM12864	blood:	n/a	chr22:28200877-28200895 chr22:28200878-28200894
42	CTCF	chr22:28197280-28197430	HMEC	breast:	n/a	chr22:28197352-28197365
43	CTCF	chr22:28200820-28200970	HepG2	liver:	n/a	chr22:28200877-28200895 chr22:28200878-28200894
44	CTCF	chr22:28200820-28200970	GM12875	blood:	n/a	chr22:28200877-28200895 chr22:28200878-28200894
45	CTCF	chr22:28198140-28198290	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr22:28197273-28197448	NHEK	skin:	n/a	chr22:28197352-28197365
47	CTCF	chr22:28200800-28200950	HUVEC	blood vessel:	n/a	chr22:28200877-28200895 chr22:28200878-28200894
48	CTCF	chr22:28200820-28200970	HMEC	breast:	n/a	chr22:28200877-28200895 chr22:28200878-28200894
49	CTCF	chr22:28196740-28196890	HMEC	breast:	n/a	n/a
50	CTCF	chr22:28200060-28200210	GM12865	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:28196226-28196276	NHDF-neo	bronchial:	n/a
2	chr22:28199338-28199388	GM06990	blood:	n/a
3	chr22:28195524-28195574	NB4	blood:	n/a
4	chr22:28200653-28200703	Hepatocyte	liver:	n/a
5	chr22:28191222-28191272	MCF10A-Er-Src	breast:	n/a
6	chr22:28198404-28198454	PFSK-1	brain:	n/a
7	chr22:28189870-28189920	GM12878	blood:	n/a
8	chr22:28189870-28189920	PANC-1	pancreas:	n/a
9	chr22:28196226-28196276	HEK293	kidney:	embryo
10	chr22:28199621-28199671	BE2_C	brain:	n/a
11	chr22:28198218-28198268	Hela-S3	cervix:	n/a
12	chr22:28199621-28199671	T-47D	breast:	n/a
13	chr22:28192794-28192844	T-47D	breast:	n/a
14	chr22:28199970-28200020	SAEC	small airway:	n/a
15	chr22:28197726-28197776	AoSMC	blood vessel:	n/a
16	chr22:28196226-28196276	NB4	blood:	n/a
17	chr22:28194981-28195031	GM06990	blood:	n/a
18	chr22:28198218-28198268	SK-N-SH	brain:	n/a
19	chr22:28191222-28191272	SAEC	small airway:	n/a
20	chr22:28196226-28196276	SK-N-MC	brain:	n/a
21	chr22:28198404-28198454	GM19239	blood:	n/a
22	chr22:28197091-28197141	PrEC	prostate:	n/a
23	chr22:28198591-28198641	AG10803	skin:	n/a
24	chr22:28193996-28194046	NT2-D1	testis:	n/a
25	chr22:28197796-28197846	SAEC	small airway:	n/a
26	chr22:28196834-28196884	SK-N-SH	brain:	n/a
27	chr22:28200494-28200544	AoSMC	blood vessel:	n/a
28	chr22:28199621-28199671	Caco-2	colon:	n/a
29	chr22:28197796-28197846	HCPEpiC	choroid plexus:	n/a
30	chr22:28198404-28198454	IMR90	lung:	fetal
31	chr22:28197091-28197141	Hela-S3	cervix:	n/a
32	chr22:28200494-28200544	GM19239	blood:	n/a
33	chr22:28196834-28196884	AG09309	skin:	n/a
34	chr22:28192794-28192844	NHDF-neo	bronchial:	n/a
35	chr22:28193910-28193960	HIPEpiC	eye:	n/a
36	chr22:28195524-28195574	ECC-1	luminal epithelium:	n/a
37	chr22:28198591-28198641	ovcar-3	ovarian:	n/a
38	chr22:28196834-28196884	ProgFib	skin:	n/a
39	chr22:28198218-28198268	HEEpiC	esophagus:	n/a
40	chr22:28197091-28197141	NT2-D1	testis:	n/a
41	chr22:28196421-28196471	RPTEC	kidney:	n/a
42	chr22:28189870-28189920	A549	lung:	n/a
43	chr22:28193910-28193960	Hela-S3	cervix:	n/a
44	chr22:28199621-28199671	GM12878	blood:	n/a
45	chr22:28198591-28198641	HEEpiC	esophagus:	n/a
46	chr22:28194981-28195031	SK-N-SH_RA	brain:	n/a
47	chr22:28197796-28197846	BE2_C	brain:	n/a
48	chr22:28198218-28198268	AG04450	lung:	fetal
49	chr22:28200653-28200703	Jurkat	blood:	n/a
50	chr22:28191914-28191964	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:27801584..27802512-chr22:28200419..28200949,3	MCF-7	breast:
2	chr22:27152647..27153253-chr22:28200609..28201363,2	MCF-7	breast:
3	chr22:28191305..28194827-chr22:28195041..28197783,3	K562	blood:
4	chr22:28191950..28194827-chr22:28195093..28197480,2	K562	blood:
5	chr22:28110787..28111563-chr22:28200459..28201309,3	MCF-7	breast:
6	chr10:103912031..103912562-chr22:28196838..28197372,2	Hela-S3	cervix:
7	chr22:28188789..28191463-chr22:28191867..28193850,2	MCF-7	breast:
8	chr17:76418002..76418532-chr22:28193243..28193763,2	MCF-7	breast:
9	chr14:20922445..20923302-chr22:28196164..28196883,2	Hela-S3	cervix:
10	chr22:28194390..28194890-chr8:46940890..46941394,2	MCF-7	breast:
11	chr22:28191305..28194827-chr22:28195041..28197783,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PITPNB-1	chr22:28197930-28198438	NONHSAT084600

Variant related genes	Relation type
MN1	TF binding region
MN1	CpG island
ENSG00000227838	chromatin interactions
ENSG00000092094	chromatin interactions
ENSG00000169184	chromatin interactions
ENSG00000166197	chromatin interactions

Extended variants
information (count: 478 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs45439497	chr22:28189822-28189823	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142756525	chr22:28189827-28189828	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188492944	chr22:28189864-28189865	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181754125	chr22:28189865-28189866	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs45487796	chr22:28189887-28189888	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575887599	chr22:28189930-28189931	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs45525737	chr22:28189948-28189949	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564695265	chr22:28189950-28189951	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs45452095	chr22:28189976-28189977	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372660581	chr22:28189988-28189989	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546197145	chr22:28190060-28190061	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs559806429	chr22:28190158-28190159	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs45496704	chr22:28190166-28190167	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186934519	chr22:28190169-28190170	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs45540633	chr22:28190170-28190171	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182377196	chr22:28190205-28190206	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2267119	chr22:28190234-28190235	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566347553	chr22:28190255-28190256	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142601216	chr22:28190298-28190299	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs185221038	chr22:28190366-28190367	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551931295	chr22:28190386-28190387	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs5762358	chr22:28190414-28190415	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs45559337	chr22:28190451-28190452	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs2267120	chr22:28190481-28190482	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs575869908	chr22:28190482-28190483	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs189739582	chr22:28190485-28190486	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs45470597	chr22:28190486-28190487	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs573496925	chr22:28190487-28190488	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs540282818	chr22:28190493-28190494	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs561758121	chr22:28190558-28190559	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs573703489	chr22:28190598-28190599	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs45484098	chr22:28190607-28190608	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs544173179	chr22:28190619-28190620	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs562379316	chr22:28190631-28190632	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369067874	chr22:28190638-28190639	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533222343	chr22:28190664-28190665	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371262536	chr22:28190691-28190692	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568269477	chr22:28190730-28190731	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs45506393	chr22:28190731-28190732	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs559871953	chr22:28190752-28190753	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs182040811	chr22:28190770-28190771	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548802893	chr22:28190787-28190788	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs202074841	chr22:28190799-28190800	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs111772299	chr22:28190802-28190803	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs200707778	chr22:28190804-28190805	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs200280353	chr22:28190805-28190806	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs71194737	chr22:28190806-28190807	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs550934328	chr22:28190807-28190808	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs112365182	chr22:28190808-28190809	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs2880841	chr22:28190809-28190810	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	21509527	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
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1264 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28170600-28192600	Weak transcription	HMEC	breast
2	chr22:28171600-28190400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:28176600-28191000	Weak transcription	NHEK	skin
4	chr22:28176800-28190000	Weak transcription	Hela-S3	cervix
5	chr22:28180200-28191000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr22:28180200-28191200	Weak transcription	Right Atrium	heart
7	chr22:28182800-28192800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr22:28184400-28190600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:28186200-28190200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr22:28186200-28191000	Genic enhancers	Fetal Stomach	stomach
11	chr22:28186200-28196000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:28186400-28190200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:28186600-28192800	Weak transcription	Lung	lung
14	chr22:28186800-28196600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:28187000-28190000	Active TSS	Fetal Brain Female	brain
16	chr22:28187400-28190600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr22:28187400-28190800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr22:28187400-28191200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr22:28187600-28190200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr22:28187600-28191000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:28187600-28192600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:28187800-28190200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr22:28187800-28190400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:28187800-28190400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr22:28187800-28192200	Active TSS	Fetal Brain Male	brain
26	chr22:28188000-28190200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:28188200-28190200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr22:28188200-28190200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
29	chr22:28188400-28190600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:28188400-28190800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:28188400-28192600	Enhancers	Adipose Nuclei	Adipose
32	chr22:28188600-28198600	Active TSS	Aorta	Aorta
33	chr22:28188800-28190600	Enhancers	Psoas Muscle	Psoas
34	chr22:28188800-28191000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:28188800-28193400	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr22:28189000-28190400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr22:28189000-28191000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:28189000-28191000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr22:28189000-28192600	Active TSS	Brain Germinal Matrix	brain
40	chr22:28189200-28190200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr22:28189200-28190200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr22:28189200-28190600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:28189400-28190000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr22:28189400-28190400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr22:28189400-28198600	Active TSS	Brain Anterior Caudate	brain
46	chr22:28189600-28190200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr22:28189600-28190200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr22:28189600-28190400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr22:28189600-28190600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr22:28189600-28190800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach

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