Variant report

Variant	nsv555633
Chromosome Location	chr11:85426330-85473883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:635)
CpG islands
(count:1222)
Chromatin interactive
region (count:98)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:85437160-85437164	K562	blood:	n/a	n/a
2	ATF3	chr11:85430045-85430590	HCT-116	colon:	n/a	n/a
3	ATF3	chr11:85437022-85437235	K562	blood:	n/a	n/a
4	ATF3	chr11:85429941-85430582	A549	lung:	n/a	n/a
5	ATF3	chr11:85459311-85459985	A549	lung:	n/a	n/a
6	BACH1	chr11:85427332-85427364	K562	blood:	n/a	n/a
7	BCL3	chr11:85459306-85460048	A549	lung:	n/a	n/a
8	BCL3	chr11:85429956-85430607	A549	lung:	n/a	n/a
9	BCL3	chr11:85429789-85430630	A549	lung:	n/a	n/a
10	CBX3	chr11:85434014-85434630	HCT-116	colon:	n/a	n/a
11	CBX3	chr11:85433968-85434612	HCT-116	colon:	n/a	n/a
12	CBX3	chr11:85429945-85430631	HCT-116	colon:	n/a	n/a
13	CBX3	chr11:85436571-85437484	HCT-116	colon:	n/a	n/a
14	CBX3	chr11:85436418-85437521	HCT-116	colon:	n/a	n/a
15	CEBPB	chr11:85435902-85436102	K562	blood:	n/a	chr11:85435989-85436000
16	CEBPB	chr11:85470922-85471280	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr11:85453740-85454559	HCT-116	colon:	n/a	n/a
18	CEBPB	chr11:85436706-85437444	HCT-116	colon:	n/a	n/a
19	CEBPB	chr11:85429913-85430587	A549	lung:	n/a	n/a
20	CEBPB	chr11:85430123-85430385	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr11:85429913-85430649	HCT-116	colon:	n/a	n/a
22	CEBPB	chr11:85451606-85451830	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr11:85460665-85460721	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr11:85429496-85430455	IMR90	lung:	n/a	n/a
25	CEBPB	chr11:85436954-85437343	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr11:85470952-85471285	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr11:85457839-85458035	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr11:85461891-85462184	IMR90	lung:	n/a	n/a
29	CEBPB	chr11:85459571-85460198	A549	lung:	n/a	n/a
30	CEBPB	chr11:85470887-85471251	MCF-7	breast:	n/a	n/a
31	CEBPB	chr11:85450575-85450778	K562	blood:	n/a	chr11:85450662-85450673 chr11:85450663-85450674
32	CEBPB	chr11:85435842-85436151	A549	lung:	n/a	chr11:85435989-85436000
33	CEBPB	chr11:85435845-85436161	HepG2	liver:	n/a	chr11:85435989-85436000
34	CEBPB	chr11:85450530-85450847	HepG2	liver:	n/a	chr11:85450662-85450673 chr11:85450663-85450674
35	CEBPB	chr11:85436811-85437316	HCT-116	colon:	n/a	n/a
36	CEBPB	chr11:85460565-85460818	A549	lung:	n/a	n/a
37	CEBPB	chr11:85470939-85471214	ECC-1	luminal epithelium:	n/a	n/a
38	CEBPB	chr11:85435856-85436163	IMR90	lung:	n/a	chr11:85435989-85436000
39	CEBPB	chr11:85470917-85471335	IMR90	lung:	n/a	n/a
40	CEBPB	chr11:85450526-85450834	A549	lung:	n/a	chr11:85450662-85450673 chr11:85450663-85450674
41	CEBPB	chr11:85435889-85436106	Hela-S3	cervix:	n/a	chr11:85435989-85436000
42	CEBPB	chr11:85454000-85454341	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr11:85433865-85434608	MCF-7	breast:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
44	CEBPB	chr11:85433879-85434592	MCF-7	breast:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
45	CEBPB	chr11:85470950-85471431	A549	lung:	n/a	n/a
46	CEBPB	chr11:85433957-85434215	K562	blood:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
47	CEBPB	chr11:85433970-85434233	A549	lung:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
48	CEBPB	chr11:85469749-85469863	A549	lung:	n/a	chr11:85469817-85469826
49	CEBPB	chr11:85470816-85471428	HCT-116	colon:	n/a	n/a
50	CEBPB	chr11:85470946-85471251	A549	lung:	n/a	n/a

(count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:85430629-85430679	HL-60	blood:	n/a
2	chr11:85469037-85469087	HepG2	liver:	n/a
3	chr11:85430629-85430679	HL-60	blood:	n/a
4	chr11:85469037-85469087	HepG2	liver:	n/a
5	chr11:85469117-85469167	Hela-S3	cervix:	n/a
6	chr11:85460604-85460654	GM12892	blood:	n/a
7	chr11:85469037-85469087	GM12892	blood:	n/a
8	chr11:85470458-85470508	GM12878	blood:	n/a
9	chr11:85469037-85469087	IMR90	lung:	fetal
10	chr11:85430070-85430120	CMK	blood:	n/a
11	chr11:85438773-85438823	Caco-2	colon:	n/a
12	chr11:85438947-85438997	A549	lung:	n/a
13	chr11:85437589-85437639	A549	lung:	n/a
14	chr11:85451557-85451607	U87	brain:	n/a
15	chr11:85437579-85437629	A549	lung:	n/a
16	chr11:85438773-85438823	HCPEpiC	choroid plexus:	n/a
17	chr11:85469247-85469297	HEK293	kidney:	embryo
18	chr11:85451557-85451607	HCM	heart:	n/a
19	chr11:85430657-85430707	ProgFib	skin:	n/a
20	chr11:85437579-85437629	SKMC	muscle:	n/a
21	chr11:85437589-85437639	GM12891	blood:	n/a
22	chr11:85438818-85438868	ovcar-3	ovarian:	n/a
23	chr11:85430634-85430684	NB4	blood:	n/a
24	chr11:85469037-85469087	A549	lung:	n/a
25	chr11:85472846-85472896	HMEC	breast:	n/a
26	chr11:85472846-85472896	LNCaP	prostate:	n/a
27	chr11:85469037-85469087	CMK	blood:	n/a
28	chr11:85438947-85438997	HCT-116	colon:	n/a
29	chr11:85469037-85469087	GM06990	blood:	n/a
30	chr11:85430634-85430684	HRE	kidney:	n/a
31	chr11:85430070-85430120	Hepatocyte	liver:	n/a
32	chr11:85470458-85470508	NB4	blood:	n/a
33	chr11:85469247-85469297	HMEC	breast:	n/a
34	chr11:85438947-85438997	SAEC	small airway:	n/a
35	chr11:85437589-85437639	NHBE	bronchial:	n/a
36	chr11:85437579-85437629	ECC-1	luminal epithelium:	n/a
37	chr11:85436135-85436185	HRE	kidney:	n/a
38	chr11:85437579-85437629	NHBE	bronchial:	n/a
39	chr11:85472846-85472896	A549	lung:	n/a
40	chr11:85469247-85469297	Hela-S3	cervix:	n/a
41	chr11:85453669-85453719	SK-N-SH_RA	brain:	n/a
42	chr11:85469919-85469969	AG09319	gingival:	n/a
43	chr11:85438818-85438868	HRPEpiC	eye:	n/a
44	chr11:85469037-85469087	AoSMC	blood vessel:	n/a
45	chr11:85436135-85436185	PFSK-1	brain:	n/a
46	chr11:85469919-85469969	K562	blood:	n/a
47	chr11:85470458-85470508	Hela-S3	cervix:	n/a
48	chr11:85438773-85438823	GM19239	blood:	n/a
49	chr11:85438818-85438868	HL-60	blood:	n/a
50	chr11:85427572-85427622	GM12891	blood:	n/a

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:85434439..85436977-chr11:85459317..85462236,2	MCF-7	breast:
2	chr11:85338344..85340985-chr11:85434050..85436369,2	K562	blood:
3	chr11:85470232..85471819-chr11:85473605..85475832,2	K562	blood:
4	chr11:85471983..85474269-chr11:85484169..85487158,2	MCF-7	breast:
5	chr11:85452340..85455544-chr11:85456750..85459606,3	K562	blood:
6	chr11:85456882..85459698-chr17:57916750..57918708,2	MCF-7	breast:
7	chr11:85444504..85447684-chr11:85505412..85508647,3	MCF-7	breast:
8	chr11:85468435..85470460-chr11:85522182..85523762,2	MCF-7	breast:
9	chr11:85445028..85447969-chr11:85452486..85454600,2	K562	blood:
10	chr11:85445028..85447969-chr11:85452486..85454600,2	K562	blood:
11	chr11:85447110..85449601-chr11:85539919..85542813,2	MCF-7	breast:
12	chr11:85435149..85436971-chr11:85444294..85447151,2	MCF-7	breast:
13	chr11:85446570..85449228-chr11:85451047..85454870,3	MCF-7	breast:
14	chr11:85427809..85429920-chr11:85433567..85435878,3	MCF-7	breast:
15	chr11:85374448..85377150-chr11:85472660..85474200,2	MCF-7	breast:
16	chr11:85374169..85377247-chr11:85434867..85438072,3	MCF-7	breast:
17	chr11:85404945..85406929-chr11:85457970..85459498,2	MCF-7	breast:
18	chr11:85446570..85449228-chr11:85451047..85454870,3	MCF-7	breast:
19	chr11:85373496..85375971-chr11:85442950..85444857,2	MCF-7	breast:
20	chr11:85447296..85450521-chr11:85450822..85453106,4	MCF-7	breast:
21	chr11:85423310..85426529-chr11:85429130..85432198,3	MCF-7	breast:
22	chr11:85457955..85460944-chr11:85541331..85543778,2	MCF-7	breast:
23	chr11:85414305..85416177-chr11:85432869..85434542,2	MCF-7	breast:
24	chr11:85446235..85448098-chr11:85532932..85535818,2	MCF-7	breast:
25	chr11:85445267..85447565-chr11:85447614..85449688,2	MCF-7	breast:
26	chr11:85466239..85468587-chr11:85472162..85474352,2	MCF-7	breast:
27	chr11:85447416..85450012-chr11:85465090..85467738,2	MCF-7	breast:
28	chr11:85456354..85459698-chr11:85460209..85463531,4	MCF-7	breast:
29	chr11:85339388..85341161-chr11:85467592..85470414,2	MCF-7	breast:
30	chr11:85447411..85449377-chr11:85521136..85523499,2	MCF-7	breast:
31	chr11:85446637..85448828-chr11:85475522..85477132,2	MCF-7	breast:
32	chr11:85456354..85459698-chr11:85460209..85463531,4	MCF-7	breast:
33	chr11:85433132..85435744-chr11:85522806..85525692,2	MCF-7	breast:
34	chr11:85448431..85450003-chr11:85541669..85543570,2	MCF-7	breast:
35	chr11:85449386..85450931-chr11:85453758..85455391,2	K562	blood:
36	chr11:85438614..85440584-chr11:85468892..85470720,2	MCF-7	breast:
37	chr11:85447296..85450521-chr11:85450822..85453106,4	MCF-7	breast:
38	chr11:85462033..85463782-chr11:85520601..85522192,2	MCF-7	breast:
39	chr11:85449386..85450931-chr11:85453758..85455391,2	K562	blood:
40	chr11:85451589..85453294-chr11:85503015..85505521,2	MCF-7	breast:
41	chr11:85433923..85435734-chr11:85518099..85520604,2	MCF-7	breast:
42	chr11:85466013..85467547-chr11:85470379..85472711,2	MCF-7	breast:
43	chr11:85427809..85429920-chr11:85433567..85435878,3	MCF-7	breast:
44	chr11:85449141..85453316-chr11:85456820..85460896,4	MCF-7	breast:
45	chr11:85453893..85455528-chr11:85457587..85459184,2	MCF-7	breast:
46	chr11:85432781..85434564-chr11:85442681..85445528,2	MCF-7	breast:
47	chr11:85463747..85466661-chr11:85473937..85475998,2	MCF-7	breast:
48	chr11:85432781..85434564-chr11:85442681..85445528,2	MCF-7	breast:
49	chr11:85470232..85472552-chr11:85473605..85477376,4	K562	blood:
50	chr11:85452078..85454739-chr11:85520232..85522927,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC89-4	chr11:85429833-85430211	NONHSAT023447
2	lnc-CCDC89-4	chr11:85429833-85430223	NONHSAT023446
3	lnc-CCDC89-4	chr11:85427386-85427474	NONHSAT023446
4	lnc-CCDC89-7	chr11:85455444-85456066	expReg_chr11_8320_-
5	lnc-CCDC89-4	chr11:85427324-85427471	NONHSAT023447
6	lnc-AP000974.1-1	chr11:85468803-85469112	NONHSAT023448
7	lnc-CCDC89-6	chr11:85452619-85452847	expReg_chr11_8315_-

No data

Variant related genes	Relation type
SYTL2	TF binding region
SYTL2	CpG island
ENSG00000199004	chromatin interactions
ENSG00000171204	chromatin interactions
ENSG00000150672	chromatin interactions
ENSG00000137501	chromatin interactions
ENSG00000137504	chromatin interactions

Extended variants
information (count: 1909 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1909 , 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	rs17148355	chr11:85426330-85426331	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192396346	chr11:85426348-85426349	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533797336	chr11:85426359-85426360	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs184809843	chr11:85426367-85426368	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs571185840	chr11:85426378-85426379	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537638236	chr11:85426524-85426525	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556255587	chr11:85426540-85426541	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs577640448	chr11:85426552-85426553	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs533705289	chr11:85426629-85426630	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs187316317	chr11:85426630-85426631	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs148994296	chr11:85426647-85426648	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs546980248	chr11:85426657-85426658	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs77558683	chr11:85426694-85426695	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs540881743	chr11:85426719-85426720	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs562366064	chr11:85426731-85426732	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs529526246	chr11:85426744-85426745	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs115996421	chr11:85426779-85426780	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs145899745	chr11:85426791-85426792	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs192261526	chr11:85426827-85426828	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs533236585	chr11:85426831-85426832	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs551372949	chr11:85426851-85426852	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs565343618	chr11:85426855-85426856	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs372090627	chr11:85426862-85426863	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs374362807	chr11:85426950-85426951	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs566484001	chr11:85427023-85427024	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs527678917	chr11:85427084-85427085	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs368745385	chr11:85427184-85427185	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs567429824	chr11:85427187-85427188	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs538069399	chr11:85427194-85427195	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs556055626	chr11:85427205-85427206	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs571332896	chr11:85427229-85427230	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs538313037	chr11:85427232-85427233	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs547519832	chr11:85427253-85427254	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs535895351	chr11:85427352-85427353	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs290190	chr11:85427450-85427451	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs572117239	chr11:85427501-85427502	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs542635064	chr11:85427519-85427520	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs138497642	chr11:85427566-85427567	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs142760564	chr11:85427572-85427573	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs544807151	chr11:85427599-85427600	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs290191	chr11:85427641-85427642	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs533472147	chr11:85427674-85427675	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs184754424	chr11:85427682-85427683	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs556181954	chr11:85427711-85427712	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs76637618	chr11:85427726-85427727	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs150291885	chr11:85427738-85427739	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs67088133	chr11:85427739-85427740	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs527716531	chr11:85427823-85427824	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs545756752	chr11:85427874-85427875	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs76310992	chr11:85427881-85427882	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:1388 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85394000-85427400	Weak transcription	Small Intestine	intestine
2	chr11:85396800-85429800	Weak transcription	Stomach Mucosa	stomach
3	chr11:85397200-85438600	Weak transcription	Colonic Mucosa	Colon
4	chr11:85397600-85428400	Weak transcription	Brain Angular Gyrus	brain
5	chr11:85397800-85430000	Weak transcription	Ovary	ovary
6	chr11:85398000-85427600	Weak transcription	Brain Substantia Nigra	brain
7	chr11:85406200-85429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:85408600-85426600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:85409400-85427200	Weak transcription	Fetal Lung	lung
10	chr11:85412000-85436800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:85412000-85438000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:85412600-85427000	Weak transcription	Fetal Intestine Small	intestine
13	chr11:85413600-85427200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:85413600-85429600	Weak transcription	Fetal Stomach	stomach
15	chr11:85413800-85430000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:85417600-85427200	Weak transcription	NH-A	brain
17	chr11:85417600-85428600	Weak transcription	Osteobl	bone
18	chr11:85417600-85453000	Weak transcription	Gastric	stomach
19	chr11:85418400-85436400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:85418600-85427000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:85422400-85427800	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:85422400-85428000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:85422400-85430200	Weak transcription	Fetal Kidney	kidney
24	chr11:85422600-85427000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:85422600-85428600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:85422600-85448600	Weak transcription	Fetal Intestine Large	intestine
27	chr11:85422800-85448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:85423000-85429800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:85423600-85430000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:85424000-85448600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:85424200-85426800	Enhancers	A549	lung
32	chr11:85424200-85427800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:85424400-85427000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:85424400-85428400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:85424600-85427000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:85424600-85429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:85425000-85427200	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:85425200-85428600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:85425400-85427000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:85425400-85428600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:85425600-85426400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:85425600-85427000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:85425600-85427000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:85425600-85427000	Weak transcription	HSMMtube	muscle
45	chr11:85425600-85427200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:85425600-85427200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr11:85425600-85429600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:85425600-85429800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr11:85425800-85426600	Enhancers	NHDF-Ad	bronchial
50	chr11:85425800-85429600	Weak transcription	Primary T cells from cord blood	blood

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