Variant report

Variant	esv1804029
Chromosome Location	chr17:17669662-17714250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1798)
CpG islands
(count:2872)
Chromatin interactive
region (count:128)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1798 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:17689596-17689722	HepG2	liver:	n/a	n/a
2	ATF2	chr17:17713336-17713849	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr17:17684393-17684792	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr17:17713279-17714123	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr17:17712397-17712864	GM12878	blood:	n/a	n/a
6	BACH1	chr17:17696355-17696370	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr17:17713334-17713821	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr17:17686076-17686331	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr17:17712516-17712604	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr17:17686839-17687418	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr17:17685558-17685758	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr17:17711914-17712541	A549	lung:	n/a	n/a
13	BCL3	chr17:17713153-17716085	A549	lung:	n/a	n/a
14	BCL3	chr17:17713597-17716148	K562	blood:	n/a	n/a
15	BCL3	chr17:17713094-17714577	A549	lung:	n/a	n/a
16	BCL3	chr17:17677358-17677649	GM12878	blood:	n/a	n/a
17	BCL3	chr17:17713963-17714299	K562	blood:	n/a	n/a
18	BCL3	chr17:17711874-17712690	A549	lung:	n/a	n/a
19	BCL3	chr17:17684239-17684774	A549	lung:	n/a	n/a
20	BCL3	chr17:17710579-17711697	A549	lung:	n/a	n/a
21	BCL3	chr17:17710771-17711643	A549	lung:	n/a	n/a
22	BCLAF1	chr17:17687081-17687525	GM12878	blood:	n/a	chr17:17687089-17687102 chr17:17687094-17687103
23	BHLHE40	chr17:17712490-17712798	GM12878	blood:	n/a	n/a
24	BHLHE40	chr17:17685573-17685925	GM12878	blood:	n/a	n/a
25	BRCA1	chr17:17713360-17713571	H1-hESC	embryonic stem cell:	n/a	n/a
26	CBX3	chr17:17688208-17688470	K562	blood:	n/a	n/a
27	CCNT2	chr17:17686493-17686719	K562	blood:	n/a	n/a
28	CCNT2	chr17:17685503-17685574	K562	blood:	n/a	n/a
29	CCNT2	chr17:17713378-17714521	K562	blood:	n/a	n/a
30	CEBPB	chr17:17683396-17683566	K562	blood:	n/a	n/a
31	CEBPB	chr17:17687241-17687262	K562	blood:	n/a	n/a
32	CEBPB	chr17:17713112-17713156	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr17:17693714-17693763	IMR90	lung:	n/a	n/a
34	CEBPB	chr17:17713394-17713557	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr17:17686742-17686890	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPD	chr17:17686387-17686808	HepG2	liver:	n/a	n/a
37	CHD1	chr17:17686769-17686867	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr17:17693257-17693431	HepG2	liver:	n/a	n/a
39	CHD2	chr17:17686664-17686805	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr17:17685417-17685644	GM12878	blood:	n/a	n/a
41	CHD2	chr17:17686178-17686210	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr17:17713335-17713776	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr17:17713328-17713656	K562	blood:	n/a	n/a
44	CHD2	chr17:17713890-17714092	K562	blood:	n/a	n/a
45	CHD2	chr17:17709376-17709486	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr17:17712557-17712657	GM12878	blood:	n/a	n/a
47	CREB1	chr17:17677425-17678030	A549	lung:	n/a	n/a
48	CREB1	chr17:17713257-17713605	A549	lung:	n/a	n/a
49	CTBP2	chr17:17684304-17685583	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTBP2	chr17:17686048-17688034	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2872 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17713886-17713936	AG10803	skin:	n/a
2	chr17:17672475-17672525	NT2-D1	testis:	n/a
3	chr17:17684240-17684290	Jurkat	blood:	n/a
4	chr17:17685582-17685632	ProgFib	skin:	n/a
5	chr17:17704646-17704696	AG04449	skin:	fetal
6	chr17:17713886-17713936	AG10803	skin:	n/a
7	chr17:17672475-17672525	NT2-D1	testis:	n/a
8	chr17:17684240-17684290	Jurkat	blood:	n/a
9	chr17:17685582-17685632	ProgFib	skin:	n/a
10	chr17:17704646-17704696	AG04449	skin:	fetal
11	chr17:17672475-17672525	SAEC	small airway:	n/a
12	chr17:17686332-17686382	A549	lung:	n/a
13	chr17:17684010-17684060	HUVEC	blood vessel:	n/a
14	chr17:17696392-17696442	HepG2	liver:	n/a
15	chr17:17704646-17704696	NT2-D1	testis:	n/a
16	chr17:17684010-17684060	ProgFib	skin:	n/a
17	chr17:17697732-17697782	PANC-1	pancreas:	n/a
18	chr17:17709007-17709057	HIPEpiC	eye:	n/a
19	chr17:17700871-17700921	HRE	kidney:	n/a
20	chr17:17713671-17713721	SK-N-MC	brain:	n/a
21	chr17:17699213-17699263	Jurkat	blood:	n/a
22	chr17:17702181-17702231	HCF	heart:	n/a
23	chr17:17669973-17670023	HCPEpiC	choroid plexus:	n/a
24	chr17:17701015-17701065	GM12878	blood:	n/a
25	chr17:17713061-17713111	AG09309	skin:	n/a
26	chr17:17685031-17685081	HAEpiC	amniotic membrane:	n/a
27	chr17:17713061-17713111	PFSK-1	brain:	n/a
28	chr17:17697732-17697782	Hepatocyte	liver:	n/a
29	chr17:17687422-17687472	HMEC	breast:	n/a
30	chr17:17689562-17689612	HRE	kidney:	n/a
31	chr17:17699461-17699511	HMEC	breast:	n/a
32	chr17:17698768-17698818	GM06990	blood:	n/a
33	chr17:17713886-17713936	PrEC	prostate:	n/a
34	chr17:17700943-17700993	RPTEC	kidney:	n/a
35	chr17:17701015-17701065	HEEpiC	esophagus:	n/a
36	chr17:17669973-17670023	H1-hESC	embryonic stem cell:	embryo
37	chr17:17687834-17687884	HUVEC	blood vessel:	n/a
38	chr17:17697732-17697782	BE2_C	brain:	n/a
39	chr17:17685582-17685632	ECC-1	luminal epithelium:	n/a
40	chr17:17698048-17698098	Hela-S3	cervix:	n/a
41	chr17:17701697-17701747	PFSK-1	brain:	n/a
42	chr17:17686141-17686191	MCF-7	breast:	n/a
43	chr17:17700871-17700921	NHDF-neo	bronchial:	n/a
44	chr17:17684010-17684060	AG09309	skin:	n/a
45	chr17:17697841-17697891	IMR90	lung:	fetal
46	chr17:17686141-17686191	HRCEpiC	kidney:	n/a
47	chr17:17699461-17699511	A549	lung:	n/a
48	chr17:17700871-17700921	NHBE	bronchial:	n/a
49	chr17:17704646-17704696	PFSK-1	brain:	n/a
50	chr17:17699286-17699336	HRPEpiC	eye:	n/a

(count:128 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr17:17584533..17585363-chr17:17677613..17678120,2	MCF-7	breast:
2	chr17:17673337..17674941-chr17:17682248..17684047,2	K562	blood:
3	chr17:17654775..17657908-chr17:17671438..17673241,3	K562	blood:
4	chr17:17692301..17694002-chr17:17694176..17696091,2	MCF-7	breast:
5	chr17:17662991..17666589-chr17:17675062..17678538,4	MCF-7	breast:
6	chr17:17585146..17587854-chr17:17712160..17713787,2	K562	blood:
7	chr17:17658357..17659324-chr17:17686198..17687096,5	MCF-7	breast:
8	chr17:17584354..17585071-chr17:17689027..17689705,2	MCF-7	breast:
9	chr17:17709472..17711211-chr17:17713888..17716285,2	MCF-7	breast:
10	chr17:17685908..17688638-chr17:17739625..17744756,9	MCF-7	breast:
11	chr17:17653607..17656279-chr17:17667368..17669834,2	K562	blood:
12	chr17:17673337..17674941-chr17:17682248..17684047,2	K562	blood:
13	chr17:17688311..17690419-chr17:17694762..17696423,2	MCF-7	breast:
14	chr17:17667254..17669181-chr17:17670472..17672335,2	MCF-7	breast:
15	chr17:17692301..17694002-chr17:17694176..17696091,2	MCF-7	breast:
16	chr17:17694463..17696296-chr17:17712959..17714738,2	MCF-7	breast:
17	chr17:17691094..17693171-chr17:17695377..17699486,3	K562	blood:
18	chr17:17676793..17678855-chr17:17691201..17693864,2	MCF-7	breast:
19	chr17:17584161..17584897-chr17:17677858..17678561,3	MCF-7	breast:
20	chr17:17696023..17699277-chr17:17700100..17704638,4	K562	blood:
21	chr17:17693891..17695955-chr17:17698276..17701627,3	K562	blood:
22	chr17:17676883..17678568-chr17:17694374..17695879,2	MCF-7	breast:
23	chr17:17673495..17677565-chr17:17684022..17690653,6	MCF-7	breast:
24	chr17:17686081..17687652-chrX:48392038..48393539,2	K562	blood:
25	chr17:17634554..17636650-chr17:17709495..17711657,2	MCF-7	breast:
26	chr17:17679491..17683222-chr17:17686874..17689759,4	MCF-7	breast:
27	chr17:17586455..17590031-chr17:17707371..17710346,3	MCF-7	breast:
28	chr17:17680425..17682951-chr17:17684524..17687112,3	K562	blood:
29	chr17:17671179..17672795-chr17:17675157..17676769,2	K562	blood:
30	chr17:17654983..17656803-chr17:17691240..17693922,2	MCF-7	breast:
31	chr17:17662619..17665497-chr17:17675945..17678839,3	K562	blood:
32	chr17:17675195..17678001-chr17:17679106..17680835,2	MCF-7	breast:
33	chr17:17583496..17585478-chr17:17676314..17678028,2	MCF-7	breast:
34	chr17:17702786..17705545-chr17:17709001..17711709,2	K562	blood:
35	chr17:17583640..17587401-chr17:17713270..17717474,6	MCF-7	breast:
36	chr17:17694613..17696155-chr17:17697570..17699301,2	MCF-7	breast:
37	chr17:17584810..17586718-chr17:17672245..17674838,2	MCF-7	breast:
38	chr17:17693638..17695676-chr17:17707217..17709070,2	K562	blood:
39	chr17:17578367..17581846-chr17:17711367..17714822,4	MCF-7	breast:
40	chr17:17706399..17710687-chr17:17711145..17715909,7	K562	blood:
41	chr17:17655861..17657547-chr17:17674732..17677480,2	K562	blood:
42	chr17:17671386..17673399-chr17:17743752..17745349,2	MCF-7	breast:
43	chr17:17686748..17688338-chr17:17699379..17701394,2	MCF-7	breast:
44	chr17:17713571..17716045-chr17:17763019..17766158,3	K562	blood:
45	chr17:17596211..17599216-chr17:17709321..17712358,3	MCF-7	breast:
46	chr17:17675195..17678001-chr17:17679106..17680835,2	MCF-7	breast:
47	chr17:17676883..17678568-chr17:17694374..17695879,2	MCF-7	breast:
48	chr17:17683965..17687759-chr17:17739269..17741858,4	K562	blood:
49	chr17:17700084..17702891-chr17:17740296..17741974,2	MCF-7	breast:
50	chr17:17702735..17704555-chr17:17706937..17709032,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC48-1	chr17:17681095-17681180	ENSG00000264167.1
2	lnc-LRRC48-1	chr17:17682029-17682408	ENSG00000264167.1
3	lnc-SMCR5-2	chr17:17674130-17674135	ENSG00000237328.1
4	lnc-LRRC48-2	chr17:17713284-17714003	NONHSAT146107
5	lnc-LRRC48-2	chr17:17712596-17712753	NONHSAT146107
6	lnc-SMCR5-1	chr17:17680000-17682843	ENSG00000226746.2

No data

Variant related genes	Relation type
RAI1	TF binding region
RAI1-AS1	TF binding region
SMCR5	TF binding region
ENSG00000264167	TF binding region
RAI1	CpG island
RAI1-AS1	CpG island
SMCR5	CpG island
ENSG00000264167	CpG island
ENSG00000207839	chromatin interactions
ENSG00000175662	chromatin interactions
ENSG00000264167	chromatin interactions
ENSG00000223979	chromatin interactions
ENSG00000237328	chromatin interactions
ENSG00000108557	chromatin interactions
ENSG00000226746	chromatin interactions
ENSG00000072310	chromatin interactions

Extended variants
information (count: 1914 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:1914 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540007856	chr17:17669683-17669684	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs62064095	chr17:17669744-17669745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553545651	chr17:17669753-17669754	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs111472647	chr17:17669763-17669764	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113397043	chr17:17669766-17669767	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535567732	chr17:17669837-17669838	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555066286	chr17:17669857-17669858	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189717900	chr17:17669858-17669859	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543817697	chr17:17669870-17669871	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370358876	chr17:17669883-17669884	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528449598	chr17:17669904-17669905	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs151066542	chr17:17669921-17669922	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577538325	chr17:17669958-17669959	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561122116	chr17:17670025-17670026	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs199834004	chr17:17670052-17670053	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540020684	chr17:17670081-17670082	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541110012	chr17:17670108-17670109	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs140252276	chr17:17670143-17670144	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528573324	chr17:17670159-17670160	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542349178	chr17:17670167-17670168	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372658722	chr17:17670175-17670176	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562051675	chr17:17670214-17670215	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530879889	chr17:17670301-17670302	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545714038	chr17:17670350-17670351	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551015091	chr17:17670380-17670381	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs111617936	chr17:17670407-17670408	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150356346	chr17:17670416-17670417	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377191531	chr17:17670421-17670422	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567102557	chr17:17670446-17670447	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535193605	chr17:17670447-17670448	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs180795358	chr17:17670467-17670468	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12603397	chr17:17670502-17670503	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185489760	chr17:17670576-17670577	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs557348590	chr17:17670588-17670589	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs191008832	chr17:17670701-17670702	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534143473	chr17:17670711-17670712	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs74374763	chr17:17670736-17670737	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553674965	chr17:17670750-17670751	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs573739933	chr17:17670757-17670758	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550891633	chr17:17670814-17670815	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542460253	chr17:17670834-17670835	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs77080239	chr17:17670864-17670865	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs55647563	chr17:17670899-17670900	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183253167	chr17:17670954-17670955	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs186455989	chr17:17671005-17671006	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544599750	chr17:17671032-17671033	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs59943360	chr17:17671037-17671038	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs117799081	chr17:17671070-17671071	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs561658812	chr17:17671071-17671072	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547314126	chr17:17671095-17671096	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:161)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	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
Acute myeloid leukemia	17237825	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
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	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
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	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
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:2609 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17656600-17682200	Weak transcription	Small Intestine	intestine
2	chr17:17656800-17669800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:17656800-17669800	Weak transcription	Colonic Mucosa	Colon
4	chr17:17657000-17670400	Weak transcription	NH-A	brain
5	chr17:17657000-17677400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr17:17657200-17675200	Weak transcription	Osteobl	bone
7	chr17:17657400-17671000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr17:17661200-17670200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr17:17661800-17670400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr17:17662000-17683800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:17663000-17677800	Weak transcription	Aorta	Aorta
12	chr17:17665800-17670400	Weak transcription	Liver	Liver
13	chr17:17665800-17670600	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr17:17666400-17669800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr17:17666400-17681800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:17666800-17670000	Strong transcription	Dnd41	blood
17	chr17:17666800-17671000	Weak transcription	Pancreas	Pancrea
18	chr17:17666800-17671600	Enhancers	Primary B cells from peripheral blood	blood
19	chr17:17666800-17671800	Weak transcription	Adipose Nuclei	Adipose
20	chr17:17667000-17669800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr17:17667200-17669800	Weak transcription	Right Ventricle	heart
22	chr17:17667400-17670400	Enhancers	GM12878-XiMat	blood
23	chr17:17667600-17673800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:17667800-17670200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:17668200-17670000	Genic enhancers	Fetal Thymus	thymus
26	chr17:17668200-17670200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:17668200-17674600	Genic enhancers	Fetal Intestine Small	intestine
28	chr17:17668400-17669800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr17:17668400-17670000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr17:17668400-17671200	Genic enhancers	Fetal Stomach	stomach
31	chr17:17668400-17672000	Enhancers	HSMM	muscle
32	chr17:17668600-17669800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr17:17668600-17670200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:17668600-17670200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:17668600-17670400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr17:17668600-17670400	Enhancers	Esophagus	oesophagus
37	chr17:17668600-17672000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:17668600-17672400	Enhancers	A549	lung
39	chr17:17668600-17674800	Enhancers	Fetal Brain Male	brain
40	chr17:17668600-17675200	Enhancers	Psoas Muscle	Psoas
41	chr17:17668600-17675600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr17:17668600-17675800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr17:17668600-17675800	Enhancers	Brain Angular Gyrus	brain
44	chr17:17668600-17675800	Enhancers	Fetal Lung	lung
45	chr17:17668600-17678200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr17:17668800-17670000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:17668800-17670200	Enhancers	Primary T cells from cord blood	blood
48	chr17:17668800-17670400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr17:17668800-17670800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr17:17668800-17672800	Enhancers	Cortex derived primary cultured neurospheres	brain

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