Variant report

Variant	esv3398246
Chromosome Location	chr17:20944985-20947533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1022)
CpG islands
(count:672)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1022 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:20946634-20947317	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:20946854-20947406	K562	blood:	n/a	n/a
3	ATF1	chr17:20946228-20947070	K562	blood:	n/a	n/a
4	ATF2	chr17:20946693-20947150	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr17:20946773-20947302	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr17:20946199-20946570	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr17:20946202-20946687	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr17:20946177-20947169	GM12878	blood:	n/a	n/a
9	ATF2	chr17:20946205-20946885	GM12878	blood:	n/a	n/a
10	ATF3	chr17:20946249-20946569	K562	blood:	n/a	chr17:20946427-20946438 chr17:20946429-20946437 chr17:20946427-20946438 chr17:20946427-20946440 chr17:20946428-20946448 chr17:20946429-20946440 chr17:20946425-20946440 chr17:20946428-20946442
11	ATF3	chr17:20946283-20946548	K562	blood:	n/a	chr17:20946427-20946438 chr17:20946429-20946437 chr17:20946427-20946438 chr17:20946427-20946440 chr17:20946428-20946448 chr17:20946429-20946440 chr17:20946425-20946440 chr17:20946428-20946442
12	ATF3	chr17:20946584-20947162	A549	lung:	n/a	chr17:20947061-20947069
13	BACH1	chr17:20946932-20947296	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL11A	chr17:20946624-20946924	GM12878	blood:	n/a	chr17:20946905-20946913
15	BCL3	chr17:20946612-20947509	A549	lung:	n/a	chr17:20946905-20946913
16	BCLAF1	chr17:20946634-20947206	GM12878	blood:	n/a	chr17:20946905-20946913
17	BCLAF1	chr17:20946083-20946439	GM12878	blood:	n/a	n/a
18	BHLHE40	chr17:20945027-20945136	K562	blood:	n/a	n/a
19	BHLHE40	chr17:20945805-20947479	K562	blood:	n/a	chr17:20945954-20945970
20	BHLHE40	chr17:20946000-20947402	GM12878	blood:	n/a	n/a
21	BHLHE40	chr17:20945179-20945664	GM12878	blood:	n/a	chr17:20945398-20945414
22	BRCA1	chr17:20946808-20947403	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr17:20945435-20945604	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr17:20946203-20947047	GM12878	blood:	n/a	n/a
25	BRCA1	chr17:20945522-20945536	HepG2	liver:	n/a	n/a
26	BRCA1	chr17:20946929-20947155	HepG2	liver:	n/a	n/a
27	BRCA1	chr17:20945900-20946492	HepG2	liver:	n/a	n/a
28	BRCA1	chr17:20945480-20945686	GM12878	blood:	n/a	n/a
29	BRCA1	chr17:20945957-20947292	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr17:20945973-20946533	H1-hESC	embryonic stem cell:	n/a	n/a
31	CBX3	chr17:20946626-20947229	K562	blood:	n/a	n/a
32	CCNT2	chr17:20945089-20947156	K562	blood:	n/a	chr17:20946582-20946591
33	CEBPB	chr17:20945962-20947470	HepG2	liver:	n/a	n/a
34	CEBPB	chr17:20946240-20947403	HepG2	liver:	n/a	n/a
35	CEBPB	chr17:20946241-20946587	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr17:20946243-20946585	K562	blood:	n/a	n/a
37	CEBPB	chr17:20946280-20946447	HepG2	liver:	n/a	n/a
38	CEBPB	chr17:20946235-20947335	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr17:20946195-20946614	ECC-1	luminal epithelium:	n/a	n/a
40	CEBPB	chr17:20946147-20947485	A549	lung:	n/a	n/a
41	CEBPB	chr17:20946886-20947385	IMR90	lung:	n/a	n/a
42	CEBPB	chr17:20946831-20947289	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr17:20946235-20946607	MCF-7	breast:	n/a	n/a
44	CEBPB	chr17:20946246-20946549	A549	lung:	n/a	n/a
45	CEBPB	chr17:20946889-20947347	K562	blood:	n/a	n/a
46	CEBPB	chr17:20946241-20946556	IMR90	lung:	n/a	n/a
47	CEBPD	chr17:20946092-20946593	K562	blood:	n/a	n/a
48	CEBPD	chr17:20945432-20945998	K562	blood:	n/a	n/a
49	CEBPD	chr17:20946064-20947073	HepG2	liver:	n/a	n/a
50	CEBPD	chr17:20945522-20945661	HepG2	liver:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20947094-20947144	NT2-D1	testis:	n/a
2	chr17:20947094-20947144	NT2-D1	testis:	n/a
3	chr17:20947311-20947361	NB4	blood:	n/a
4	chr17:20945549-20945599	CMK	blood:	n/a
5	chr17:20947103-20947153	HIPEpiC	eye:	n/a
6	chr17:20947311-20947361	HRE	kidney:	n/a
7	chr17:20945549-20945599	NHBE	bronchial:	n/a
8	chr17:20947094-20947144	HMEC	breast:	n/a
9	chr17:20946333-20946383	HEK293	kidney:	embryo
10	chr17:20946013-20946063	HMEC	breast:	n/a
11	chr17:20947103-20947153	U87	brain:	n/a
12	chr17:20946333-20946383	LNCaP	prostate:	n/a
13	chr17:20945555-20945605	HCM	heart:	n/a
14	chr17:20946333-20946383	A549	lung:	n/a
15	chr17:20946875-20946925	Jurkat	blood:	n/a
16	chr17:20945555-20945605	T-47D	breast:	n/a
17	chr17:20947311-20947361	K562	blood:	n/a
18	chr17:20947311-20947361	ovcar-3	ovarian:	n/a
19	chr17:20945241-20945291	AG09309	skin:	n/a
20	chr17:20946013-20946063	SK-N-SH_RA	brain:	n/a
21	chr17:20946013-20946063	HRCEpiC	kidney:	n/a
22	chr17:20947044-20947094	Caco-2	colon:	n/a
23	chr17:20947311-20947361	A549	lung:	n/a
24	chr17:20945549-20945599	HAEpiC	amniotic membrane:	n/a
25	chr17:20946013-20946063	MCF-7	breast:	n/a
26	chr17:20945555-20945605	NH-A	brain:	n/a
27	chr17:20947094-20947144	AG09309	skin:	n/a
28	chr17:20945549-20945599	GM12892	blood:	n/a
29	chr17:20945973-20946023	HAEpiC	amniotic membrane:	n/a
30	chr17:20947044-20947094	HCPEpiC	choroid plexus:	n/a
31	chr17:20945973-20946023	SK-N-SH_RA	brain:	n/a
32	chr17:20946875-20946925	H1-hESC	embryonic stem cell:	embryo
33	chr17:20946333-20946383	HEEpiC	esophagus:	n/a
34	chr17:20946333-20946383	Hela-S3	cervix:	n/a
35	chr17:20945555-20945605	NHBE	bronchial:	n/a
36	chr17:20946333-20946383	HL-60	blood:	n/a
37	chr17:20945973-20946023	AoSMC	blood vessel:	n/a
38	chr17:20947044-20947094	AG04449	skin:	fetal
39	chr17:20945549-20945599	HNPCEpiC	eye:	n/a
40	chr17:20947311-20947361	SAEC	small airway:	n/a
41	chr17:20945241-20945291	K562	blood:	n/a
42	chr17:20946013-20946063	BJ	skin:	n/a
43	chr17:20947103-20947153	HepG2	liver:	n/a
44	chr17:20945549-20945599	AoSMC	blood vessel:	n/a
45	chr17:20947044-20947094	HAEpiC	amniotic membrane:	n/a
46	chr17:20947311-20947361	SK-N-SH_RA	brain:	n/a
47	chr17:20946013-20946063	NHBE	bronchial:	n/a
48	chr17:20947103-20947153	BJ	skin:	n/a
49	chr17:20945973-20946023	MCF-7	breast:	n/a
50	chr17:20947103-20947153	HRPEpiC	eye:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:20945081..20946975-chr17:20977451..20979833,2	MCF-7	breast:
2	chr12:14923329..14923974-chr17:20946612..20947159,2	Hela-S3	cervix:
3	chr17:20923120..20926842-chr17:20942462..20946048,5	K562	blood:
4	chr17:20922289..20926435-chr17:20942892..20947042,7	MCF-7	breast:
5	chr17:20943721..20945424-chr17:21006912..21008982,2	K562	blood:
6	chr17:20945487..20946099-chr9:139743627..139744315,2	HCT-116	colon:
7	chr17:20945209..20948329-chr17:21154326..21158276,3	K562	blood:
8	chr17:20947477..20948977-chr17:41381959..41383484,3	K562	blood:
9	chr17:20923323..20925346-chr17:20944193..20946472,2	MCF-7	breast:
10	chr17:20946073..20947073-chr6:134495513..134496122,2	Hela-S3	cervix:
11	chr17:20944286..20948317-chr17:21114820..21119740,4	K562	blood:
12	chr17:20947477..20948977-chr17:41381980..41383484,2	K562	blood:
13	chr17:20942946..20947008-chr17:21027887..21030893,3	K562	blood:
14	chr17:20943445..20945736-chr17:21186305..21189168,3	K562	blood:
15	chr1:28832144..28833036-chr17:20946225..20947100,2	NB4	blood:
16	chr17:20944673..20948329-chr17:21154326..21157645,3	K562	blood:
17	chr17:20946174..20947106-chr5:162864287..162864965,2	HCT-116	colon:
18	chr17:20944908..20949288-chr17:21027831..21032603,8	MCF-7	breast:
19	chr17:20945722..20946346-chr8:145047633..145048614,2	HCT-116	colon:

No data

Variant related genes	Relation type
USP22	TF binding region
USP22	CpG island
ENSG00000054148	chromatin interactions
ENSG00000109016	chromatin interactions
ENSG00000124422	chromatin interactions
ENSG00000034152	chromatin interactions
ENSG00000236819	chromatin interactions
ENSG00000154035	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000118515	chromatin interactions
ENSG00000242125	chromatin interactions
ENSG00000235530	chromatin interactions
ENSG00000180198	chromatin interactions
ENSG00000178209	chromatin interactions
ENSG00000113328	chromatin interactions
ENSG00000178307	chromatin interactions
ENSG00000250061	chromatin interactions
ENSG00000197837	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 149 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577126566	chr17:20944987-20944988	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs537951187	chr17:20944993-20944994	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs138255297	chr17:20944996-20944997	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs545696051	chr17:20945025-20945026	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs574705524	chr17:20945043-20945044	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs558943051	chr17:20945082-20945083	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs79987087	chr17:20945088-20945089	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs149640750	chr17:20945090-20945091	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs144367311	chr17:20945131-20945132	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs546438925	chr17:20945200-20945201	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs111690166	chr17:20945232-20945233	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs188341866	chr17:20945368-20945369	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs532118446	chr17:20945387-20945388	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs544341586	chr17:20945441-20945442	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs113422424	chr17:20945470-20945471	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs562554886	chr17:20945518-20945519	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs529943796	chr17:20945522-20945523	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs548079982	chr17:20945525-20945526	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs193030803	chr17:20945605-20945606	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs527598423	chr17:20945619-20945620	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs552399835	chr17:20945629-20945630	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs75263285	chr17:20945657-20945658	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	mRNA abundance
23	rs537812478	chr17:20945725-20945726	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs4985823	chr17:20945741-20945742	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs111712869	chr17:20945742-20945743	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs556270826	chr17:20945752-20945753	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs146452878	chr17:20945769-20945770	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs568191155	chr17:20945779-20945780	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs183022998	chr17:20945781-20945782	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs561085916	chr17:20945786-20945787	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs560653394	chr17:20945787-20945788	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs547116876	chr17:20945796-20945797	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs572555497	chr17:20945802-20945803	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs372338810	chr17:20945824-20945825	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs111659264	chr17:20945830-20945831	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	mRNA abundance
36	rs558397154	chr17:20945835-20945836	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs187069505	chr17:20945837-20945838	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs544206124	chr17:20945851-20945852	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs562620279	chr17:20945864-20945865	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs529805015	chr17:20945866-20945867	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs10579510	chr17:20945875-20945876	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs4985967	chr17:20945887-20945888	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs560092065	chr17:20945895-20945896	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs112391166	chr17:20945896-20945897	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	mRNA abundance
45	rs552201876	chr17:20945905-20945906	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs570396003	chr17:20945934-20945935	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs531621343	chr17:20945953-20945954	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs191497340	chr17:20945957-20945958	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs372993660	chr17:20946098-20946099	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs527467403	chr17:20946100-20946101	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:149)

Disease	PMID	Source
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17142309	CNVD
Autism	20808228	CNVD

Chromatin state (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20942600-20945000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:20942800-20945600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr17:20943000-20947200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr17:20943200-20945200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:20943200-20947200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr17:20943200-20947200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr17:20943200-20947200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr17:20943400-20945800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:20943400-20947200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr17:20943400-20947200	Active TSS	Aorta	Aorta
11	chr17:20943400-20947200	Active TSS	Brain Angular Gyrus	brain
12	chr17:20943400-20947200	Active TSS	Ovary	ovary
13	chr17:20943400-20947200	Active TSS	GM12878-XiMat	blood
14	chr17:20943400-20947200	Active TSS	NHDF-Ad	bronchial
15	chr17:20943400-20947400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr17:20943400-20947400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr17:20943600-20945000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:20943600-20945400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr17:20943600-20947000	Active TSS	Colonic Mucosa	Colon
20	chr17:20943600-20947200	Active TSS	HSMMtube	muscle
21	chr17:20943600-20947600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr17:20943600-20947800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr17:20943600-20947800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr17:20943800-20945000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr17:20943800-20945200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr17:20943800-20945200	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr17:20943800-20945200	Active TSS	Right Atrium	heart
28	chr17:20943800-20945800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr17:20943800-20945800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:20943800-20946800	Active TSS	HMEC	breast
31	chr17:20943800-20947000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:20943800-20947000	Active TSS	HSMM	muscle
33	chr17:20943800-20947000	Active TSS	NH-A	brain
34	chr17:20943800-20947200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:20943800-20947200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr17:20943800-20947200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:20943800-20947200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr17:20943800-20947200	Active TSS	Fetal Brain Female	brain
39	chr17:20943800-20947200	Active TSS	Fetal Intestine Small	intestine
40	chr17:20943800-20947200	Active TSS	Fetal Kidney	kidney
41	chr17:20943800-20947200	Active TSS	Psoas Muscle	Psoas
42	chr17:20943800-20947200	Active TSS	Stomach Smooth Muscle	stomach
43	chr17:20943800-20947200	Active TSS	NHLF	lung
44	chr17:20943800-20947400	Active TSS	H1 Cell Line	embryonic stem cell
45	chr17:20943800-20947400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:20943800-20947400	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr17:20943800-20947600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr17:20944000-20945200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr17:20944000-20945200	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr17:20944000-20945200	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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