Variant report

Variant	esv3380983
Chromosome Location	chr22:22089102-22091350
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	chr22:22090153-22090405	K562	blood:	n/a	n/a
2	ARID3A	chr22:22089256-22089896	K562	blood:	n/a	n/a
3	ATF2	chr22:22090399-22090648	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr22:22089508-22090939	K562	blood:	n/a	chr22:22090324-22090333
5	BACH1	chr22:22090700-22090772	K562	blood:	n/a	n/a
6	BACH1	chr22:22089779-22090921	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr22:22089690-22090197	GM12878	blood:	n/a	n/a
8	BCLAF1	chr22:22089050-22090609	K562	blood:	n/a	n/a
9	BHLHE40	chr22:22089524-22090574	GM12878	blood:	n/a	chr22:22089778-22089794 chr22:22089867-22089883 chr22:22089875-22089891
10	BHLHE40	chr22:22090244-22090320	A549	lung:	n/a	n/a
11	BHLHE40	chr22:22089259-22090839	K562	blood:	n/a	chr22:22089778-22089794 chr22:22089867-22089883 chr22:22089875-22089891
12	BHLHE40	chr22:22089816-22090512	HepG2	liver:	n/a	chr22:22089867-22089883 chr22:22089875-22089891
13	BHLHE40	chr22:22090182-22090389	HepG2	liver:	n/a	n/a
14	CBX3	chr22:22088685-22091621	K562	blood:	n/a	n/a
15	CBX3	chr22:22089254-22090916	K562	blood:	n/a	n/a
16	CCNT2	chr22:22089241-22090907	K562	blood:	n/a	n/a
17	CEBPB	chr22:22089233-22089568	H1-hESC	embryonic stem cell:	n/a	chr22:22089396-22089409
18	CEBPB	chr22:22090591-22090593	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr22:22089248-22089579	K562	blood:	n/a	chr22:22089396-22089409
20	CEBPB	chr22:22089858-22090058	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr22:22089877-22090069	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr22:22089313-22090064	GM12878	blood:	n/a	chr22:22089650-22089660 chr22:22089778-22089788
23	CHD1	chr22:22090559-22090640	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr22:22090172-22090220	HepG2	liver:	n/a	n/a
25	CHD2	chr22:22089917-22090480	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr22:22089940-22090765	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr22:22089769-22090778	K562	blood:	n/a	chr22:22089778-22089788
28	CHD2	chr22:22089963-22090363	GM12878	blood:	n/a	n/a
29	CREB1	chr22:22089742-22090528	A549	lung:	n/a	n/a
30	CTCF	chr22:22089557-22091139	K562	blood:	n/a	chr22:22090855-22090868
31	CTCF	chr22:22090340-22090490	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr22:22090157-22090276	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr22:22090400-22090550	K562	blood:	n/a	n/a
34	CTCF	chr22:22089500-22089650	GM12872	blood:	n/a	n/a
35	CTCF	chr22:22089633-22090730	K562	blood:	n/a	n/a
36	CTCFL	chr22:22089709-22090773	K562	blood:	n/a	n/a
37	CTCFL	chr22:22089731-22089948	K562	blood:	n/a	n/a
38	CUX1	chr22:22089332-22089654	K562	blood:	n/a	n/a
39	E2F4	chr22:22089474-22090461	MCF10A-Er-Src	breast:	n/a	chr22:22089628-22089640 chr22:22090132-22090141 chr22:22090125-22090135 chr22:22089788-22089797
40	E2F4	chr22:22089641-22090835	K562	blood:	n/a	chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 chr22:22089788-22089797
41	E2F6	chr22:22089755-22090821	Hela-S3	cervix:	n/a	chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 chr22:22089788-22089797
42	E2F6	chr22:22089802-22090971	H1-hESC	embryonic stem cell:	n/a	chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467
43	E2F6	chr22:22089364-22090730	K562	blood:	n/a	chr22:22089628-22089640 chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 chr22:22089788-22089797
44	E2F6	chr22:22089909-22090567	A549	lung:	n/a	chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467
45	E2F6	chr22:22089738-22090844	A549	lung:	n/a	chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 chr22:22089788-22089797
46	E2F6	chr22:22089534-22090925	K562	blood:	n/a	chr22:22089628-22089640 chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 chr22:22089788-22089797
47	E2F6	chr22:22089265-22090941	K562	blood:	n/a	chr22:22089628-22089640 chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467 chr22:22089788-22089797
48	E2F6	chr22:22089811-22090846	H1-hESC	embryonic stem cell:	n/a	chr22:22090132-22090141 chr22:22090125-22090135 chr22:22090458-22090467
49	EBF1	chr22:22090082-22090418	GM12878	blood:	n/a	n/a
50	EGR1	chr22:22089645-22089904	GM12878	blood:	n/a	chr22:22089788-22089798 chr22:22089783-22089796 chr22:22089771-22089781

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22090486-22090536	SKMC	muscle:	n/a
2	chr22:22090486-22090536	SKMC	muscle:	n/a
3	chr22:22089752-22089802	SK-N-MC	brain:	n/a
4	chr22:22089417-22089467	HAEpiC	amniotic membrane:	n/a
5	chr22:22090124-22090174	HMEC	breast:	n/a
6	chr22:22089752-22089802	GM12891	blood:	n/a
7	chr22:22090066-22090116	AG04450	lung:	fetal
8	chr22:22089827-22089877	HEEpiC	esophagus:	n/a
9	chr22:22090804-22090854	GM19239	blood:	n/a
10	chr22:22089417-22089467	HPAEpiC	pulmonary alveolar:	n/a
11	chr22:22090816-22090866	AoSMC	blood vessel:	n/a
12	chr22:22089752-22089802	HPAEpiC	pulmonary alveolar:	n/a
13	chr22:22089368-22089418	NT2-D1	testis:	n/a
14	chr22:22089827-22089877	AG04449	skin:	fetal
15	chr22:22090486-22090536	NB4	blood:	n/a
16	chr22:22090129-22090179	NHBE	bronchial:	n/a
17	chr22:22089368-22089418	HCPEpiC	choroid plexus:	n/a
18	chr22:22089368-22089418	SAEC	small airway:	n/a
19	chr22:22089417-22089467	GM12892	blood:	n/a
20	chr22:22089827-22089877	PrEC	prostate:	n/a
21	chr22:22090066-22090116	AG10803	skin:	n/a
22	chr22:22090124-22090174	CMK	blood:	n/a
23	chr22:22090066-22090116	HRPEpiC	eye:	n/a
24	chr22:22090486-22090536	K562	blood:	n/a
25	chr22:22090486-22090536	HUVEC	blood vessel:	n/a
26	chr22:22089368-22089418	HUVEC	blood vessel:	n/a
27	chr22:22090486-22090536	BE2_C	brain:	n/a
28	chr22:22090124-22090174	H1-hESC	embryonic stem cell:	embryo
29	chr22:22090124-22090174	AG09319	gingival:	n/a
30	chr22:22089827-22089877	K562	blood:	n/a
31	chr22:22090129-22090179	BJ	skin:	n/a
32	chr22:22089827-22089877	PFSK-1	brain:	n/a
33	chr22:22089417-22089467	AG09319	gingival:	n/a
34	chr22:22090129-22090179	NH-A	brain:	n/a
35	chr22:22090124-22090174	AG04450	lung:	fetal
36	chr22:22090066-22090116	HRCEpiC	kidney:	n/a
37	chr22:22090124-22090174	ovcar-3	ovarian:	n/a
38	chr22:22090804-22090854	HUVEC	blood vessel:	n/a
39	chr22:22090796-22090846	NH-A	brain:	n/a
40	chr22:22090486-22090536	Hela-S3	cervix:	n/a
41	chr22:22090796-22090846	NHBE	bronchial:	n/a
42	chr22:22090124-22090174	HCF	heart:	n/a
43	chr22:22090126-22090176	T-47D	breast:	n/a
44	chr22:22089417-22089467	SK-N-SH_RA	brain:	n/a
45	chr22:22090066-22090116	AG09319	gingival:	n/a
46	chr22:22090132-22090182	GM12891	blood:	n/a
47	chr22:22089417-22089467	HCT-116	colon:	n/a
48	chr22:22090486-22090536	ProgFib	skin:	n/a
49	chr22:22090796-22090846	HRE	kidney:	n/a
50	chr22:22090126-22090176	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:22088241..22089939-chr22:22093963..22096125,2	MCF-7	breast:
2	chr22:22088545..22090754-chr22:22292290..22294479,2	MCF-7	breast:
3	chr22:22090286..22091894-chr22:22213594..22215383,2	K562	blood:
4	chr22:22087956..22092439-chr22:22291559..22296073,7	K562	blood:
5	chr22:22089770..22090272-chr3:42622964..42623955,2	Hela-S3	cervix:
6	chr22:22089192..22091927-chr22:22279825..22282512,2	K562	blood:
7	chr22:21983948..21987333-chr22:22088191..22091412,3	K562	blood:
8	chr22:22088558..22091426-chr22:22293514..22295248,2	K562	blood:
9	chr22:22090180..22091326-chr22:22292264..22293608,4	K562	blood:
10	chr22:21979975..21982573-chr22:22086401..22089371,3	K562	blood:
11	chr13:30996131..30996911-chr22:22089691..22090343,2	HCT-116	colon:
12	chr22:22089287..22091003-chr22:22220400..22222429,2	MCF-7	breast:
13	chr22:22076308..22077911-chr22:22088836..22091303,2	MCF-7	breast:
14	chr22:22090396..22092560-chr22:22305855..22308907,4	K562	blood:
15	chr22:22019700..22022032-chr22:22088092..22090057,3	MCF-7	breast:
16	chr22:22004165..22007450-chr22:22088545..22091929,3	K562	blood:
17	chr22:22089106..22092560-chr22:22306070..22309716,3	K562	blood:
18	chr22:22019023..22020752-chr22:22089369..22093678,3	K562	blood:
19	chr22:22088248..22091848-chr22:22218236..22223530,12	K562	blood:
20	chr22:22026397..22028078-chr22:22088852..22091514,2	MCF-7	breast:
21	chr22:22088248..22093129-chr22:22216287..22223699,14	K562	blood:
22	chr22:21995824..21997937-chr22:22089395..22092110,2	MCF-7	breast:
23	chr22:22088723..22091421-chr22:22896178..22899037,2	K562	blood:

Variant related genes	Relation type
YPEL1	TF binding region
YPEL1	CpG island
ENSG00000100030	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000244671	chromatin interactions
ENSG00000008324	chromatin interactions
ENSG00000161180	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000225039	chromatin interactions
ENSG00000093183	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 220 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139212782	chr22:22089205-22089206	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs377051339	chr22:22089234-22089235	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs182352531	chr22:22089261-22089262	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs549375669	chr22:22089322-22089323	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs566111992	chr22:22089326-22089327	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs144061235	chr22:22089360-22089361	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs146114582	chr22:22089367-22089368	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs533182562	chr22:22089368-22089369	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs550115669	chr22:22089376-22089377	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs570073303	chr22:22089435-22089436	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs529417905	chr22:22089449-22089450	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs549050303	chr22:22089506-22089507	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs375829286	chr22:22089584-22089585	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs369684791	chr22:22089643-22089644	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs73149926	chr22:22089650-22089651	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs565973330	chr22:22089660-22089661	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs534884092	chr22:22089685-22089686	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs188009987	chr22:22089703-22089704	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs558195365	chr22:22089729-22089730	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs551607888	chr22:22089754-22089755	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs570580113	chr22:22089772-22089773	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs571866435	chr22:22089777-22089778	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs536662168	chr22:22089795-22089796	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs139967375	chr22:22089856-22089857	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs556885197	chr22:22089904-22089905	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs573533346	chr22:22090132-22090133	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs542788045	chr22:22090187-22090188	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs553103779	chr22:22090237-22090238	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs55690117	chr22:22090262-22090263	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545185818	chr22:22090293-22090294	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs565049514	chr22:22090307-22090308	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs530806050	chr22:22090335-22090336	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs544157201	chr22:22090398-22090399	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs563734885	chr22:22090402-22090403	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs529240249	chr22:22090404-22090405	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs549111818	chr22:22090420-22090421	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs71314794	chr22:22090428-22090429	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528668819	chr22:22090450-22090451	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs551522981	chr22:22090452-22090453	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs145360046	chr22:22090472-22090473	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs575931229	chr22:22090538-22090539	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs76625068	chr22:22090557-22090558	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs145870639	chr22:22090568-22090569	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs567303170	chr22:22090583-22090584	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs536209525	chr22:22090587-22090588	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs553115942	chr22:22090607-22090608	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs370121048	chr22:22090614-22090615	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs372511316	chr22:22090630-22090631	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs112640972	chr22:22090649-22090650	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs558745123	chr22:22090700-22090701	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:220)

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
Lung cancer	18438408	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	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
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	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
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD

Chromatin state (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22083000-22089400	Weak transcription	Lung	lung
2	chr22:22088000-22089400	Flanking Active TSS	Fetal Brain Female	brain
3	chr22:22088000-22089400	Flanking Active TSS	Dnd41	blood
4	chr22:22088200-22089200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:22088200-22089200	Enhancers	Psoas Muscle	Psoas
6	chr22:22088600-22089200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:22088600-22089200	Flanking Active TSS	Fetal Brain Male	brain
8	chr22:22088600-22089400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr22:22088600-22089400	Flanking Active TSS	Thymus	Thymus
10	chr22:22088600-22089600	Flanking Active TSS	Fetal Heart	heart
11	chr22:22088600-22089800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr22:22088600-22089800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:22088800-22089200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
14	chr22:22088800-22089200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
15	chr22:22088800-22089200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:22088800-22089200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:22088800-22089200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr22:22088800-22089200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr22:22088800-22089200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:22088800-22089200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr22:22088800-22089200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr22:22088800-22089200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:22088800-22089200	Enhancers	Aorta	Aorta
24	chr22:22088800-22089200	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr22:22088800-22089200	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr22:22088800-22089200	Enhancers	Colon Smooth Muscle	Colon
27	chr22:22088800-22089200	Enhancers	Esophagus	oesophagus
28	chr22:22088800-22089200	Flanking Active TSS	Fetal Kidney	kidney
29	chr22:22088800-22089200	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr22:22088800-22089200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
31	chr22:22088800-22089200	Bivalent Enhancer	NHEK	skin
32	chr22:22088800-22089400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr22:22088800-22089400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr22:22088800-22089400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:22088800-22089400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr22:22088800-22089400	Enhancers	Gastric	stomach
37	chr22:22088800-22089400	Enhancers	Pancreas	Pancrea
38	chr22:22088800-22089400	Enhancers	Right Ventricle	heart
39	chr22:22088800-22089400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr22:22088800-22089400	Enhancers	Small Intestine	intestine
41	chr22:22088800-22089400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr22:22088800-22089400	Flanking Active TSS	HSMMtube	muscle
43	chr22:22088800-22089600	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr22:22088800-22089600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr22:22088800-22089600	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr22:22088800-22089600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:22088800-22089600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr22:22088800-22089600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr22:22088800-22089600	Enhancers	Spleen	Spleen
50	chr22:22088800-22089800	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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