Variant report

Variant	nsv1036110
Chromosome Location	chr11:85429074-85471132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:614)
CpG islands
(count:1100)
Chromatin interactive
region (count:90)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:614 , 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	chr11:85429941-85430582	A549	lung:	n/a	n/a
3	ATF3	chr11:85430045-85430590	HCT-116	colon:	n/a	n/a
4	ATF3	chr11:85459311-85459985	A549	lung:	n/a	n/a
5	ATF3	chr11:85437022-85437235	K562	blood:	n/a	n/a
6	BCL3	chr11:85429789-85430630	A549	lung:	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	CBX3	chr11:85429945-85430631	HCT-116	colon:	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	chr11:85436571-85437484	HCT-116	colon:	n/a	n/a
13	CBX3	chr11:85436418-85437521	HCT-116	colon:	n/a	n/a
14	CEBPB	chr11:85429496-85430455	IMR90	lung:	n/a	n/a
15	CEBPB	chr11:85450575-85450778	K562	blood:	n/a	chr11:85450662-85450673 chr11:85450663-85450674
16	CEBPB	chr11:85457839-85458035	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr11:85470952-85471285	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr11:85436706-85437444	HCT-116	colon:	n/a	n/a
19	CEBPB	chr11:85453740-85454559	HCT-116	colon:	n/a	n/a
20	CEBPB	chr11:85470950-85471431	A549	lung:	n/a	n/a
21	CEBPB	chr11:85459303-85459997	A549	lung:	n/a	n/a
22	CEBPB	chr11:85450545-85450852	Hela-S3	cervix:	n/a	chr11:85450662-85450673 chr11:85450663-85450674
23	CEBPB	chr11:85435845-85436161	HepG2	liver:	n/a	chr11:85435989-85436000
24	CEBPB	chr11:85435856-85436163	IMR90	lung:	n/a	chr11:85435989-85436000
25	CEBPB	chr11:85433879-85434592	MCF-7	breast:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
26	CEBPB	chr11:85470922-85471280	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr11:85430123-85430385	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr11:85433983-85434244	HepG2	liver:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
29	CEBPB	chr11:85435889-85436106	Hela-S3	cervix:	n/a	chr11:85435989-85436000
30	CEBPB	chr11:85450526-85450834	A549	lung:	n/a	chr11:85450662-85450673 chr11:85450663-85450674
31	CEBPB	chr11:85436811-85437316	HCT-116	colon:	n/a	n/a
32	CEBPB	chr11:85470887-85471251	MCF-7	breast:	n/a	n/a
33	CEBPB	chr11:85469749-85469863	A549	lung:	n/a	chr11:85469817-85469826
34	CEBPB	chr11:85433923-85434245	IMR90	lung:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
35	CEBPB	chr11:85433865-85434608	MCF-7	breast:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
36	CEBPB	chr11:85460646-85460756	HepG2	liver:	n/a	n/a
37	CEBPB	chr11:85436954-85437343	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr11:85435902-85436102	K562	blood:	n/a	chr11:85435989-85436000
39	CEBPB	chr11:85459571-85460198	A549	lung:	n/a	n/a
40	CEBPB	chr11:85460665-85460721	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr11:85470816-85471428	HCT-116	colon:	n/a	n/a
42	CEBPB	chr11:85435842-85436151	A549	lung:	n/a	chr11:85435989-85436000
43	CEBPB	chr11:85429913-85430649	HCT-116	colon:	n/a	n/a
44	CEBPB	chr11:85460565-85460818	A549	lung:	n/a	n/a
45	CEBPB	chr11:85450530-85450847	HepG2	liver:	n/a	chr11:85450662-85450673 chr11:85450663-85450674
46	CEBPB	chr11:85454000-85454341	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr11:85433957-85434215	K562	blood:	n/a	chr11:85434072-85434085 chr11:85434073-85434084 chr11:85434074-85434083
48	CEBPB	chr11:85470946-85471251	A549	lung:	n/a	n/a
49	CEBPB	chr11:85451606-85451830	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr11:85470939-85471214	ECC-1	luminal epithelium:	n/a	n/a

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:85470458-85470508	HRPEpiC	eye:	n/a
2	chr11:85436135-85436185	AG04449	skin:	fetal
3	chr11:85470458-85470508	HRPEpiC	eye:	n/a
4	chr11:85436135-85436185	AG04449	skin:	fetal
5	chr11:85438773-85438823	MCF-7	breast:	n/a
6	chr11:85430634-85430684	T-47D	breast:	n/a
7	chr11:85451557-85451607	GM12891	blood:	n/a
8	chr11:85430657-85430707	GM19239	blood:	n/a
9	chr11:85469037-85469087	HUVEC	blood vessel:	n/a
10	chr11:85436135-85436185	PANC-1	pancreas:	n/a
11	chr11:85430070-85430120	MCF10A-Er-Src	breast:	n/a
12	chr11:85451557-85451607	Jurkat	blood:	n/a
13	chr11:85469919-85469969	U87	brain:	n/a
14	chr11:85460604-85460654	HRPEpiC	eye:	n/a
15	chr11:85430634-85430684	K562	blood:	n/a
16	chr11:85469247-85469297	MCF-7	breast:	n/a
17	chr11:85430629-85430679	T-47D	breast:	n/a
18	chr11:85469117-85469167	GM12878	blood:	n/a
19	chr11:85469247-85469297	HCPEpiC	choroid plexus:	n/a
20	chr11:85460604-85460654	HAEpiC	amniotic membrane:	n/a
21	chr11:85430070-85430120	HepG2	liver:	n/a
22	chr11:85453669-85453719	Hepatocyte	liver:	n/a
23	chr11:85469117-85469167	PFSK-1	brain:	n/a
24	chr11:85438773-85438823	AG10803	skin:	n/a
25	chr11:85469247-85469297	LNCaP	prostate:	n/a
26	chr11:85469919-85469969	SK-N-MC	brain:	n/a
27	chr11:85438818-85438868	ovcar-3	ovarian:	n/a
28	chr11:85437579-85437629	HRPEpiC	eye:	n/a
29	chr11:85436135-85436185	PrEC	prostate:	n/a
30	chr11:85437589-85437639	HPAEpiC	pulmonary alveolar:	n/a
31	chr11:85469247-85469297	SK-N-MC	brain:	n/a
32	chr11:85437579-85437629	HCPEpiC	choroid plexus:	n/a
33	chr11:85438818-85438868	SAEC	small airway:	n/a
34	chr11:85438818-85438868	HCT-116	colon:	n/a
35	chr11:85469117-85469167	NT2-D1	testis:	n/a
36	chr11:85469037-85469087	AG04449	skin:	fetal
37	chr11:85451557-85451607	Caco-2	colon:	n/a
38	chr11:85469117-85469167	GM06990	blood:	n/a
39	chr11:85453669-85453719	GM12891	blood:	n/a
40	chr11:85430657-85430707	BE2_C	brain:	n/a
41	chr11:85469247-85469297	NT2-D1	testis:	n/a
42	chr11:85430070-85430120	SKMC	muscle:	n/a
43	chr11:85470458-85470508	BE2_C	brain:	n/a
44	chr11:85430657-85430707	ovcar-3	ovarian:	n/a
45	chr11:85469919-85469969	ProgFib	skin:	n/a
46	chr11:85470458-85470508	HPAEpiC	pulmonary alveolar:	n/a
47	chr11:85438947-85438997	AG04449	skin:	fetal
48	chr11:85469037-85469087	NB4	blood:	n/a
49	chr11:85430657-85430707	NHBE	bronchial:	n/a
50	chr11:85460604-85460654	HUVEC	blood vessel:	n/a

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:85459682..85462503-chr11:85466829..85468700,3	MCF-7	breast:
2	chr11:85470232..85472552-chr11:85473605..85477376,4	K562	blood:
3	chr11:85438614..85440584-chr11:85468892..85470720,2	MCF-7	breast:
4	chr11:85456882..85459698-chr17:57916750..57918708,2	MCF-7	breast:
5	chr11:85446637..85448828-chr11:85475522..85477132,2	MCF-7	breast:
6	chr11:85456354..85459698-chr11:85460209..85463531,4	MCF-7	breast:
7	chr11:85448431..85450003-chr11:85541669..85543570,2	MCF-7	breast:
8	chr11:85449386..85450931-chr11:85453758..85455391,2	K562	blood:
9	chr11:85447296..85450521-chr11:85450822..85453106,4	MCF-7	breast:
10	chr11:85466239..85468587-chr11:85472162..85474352,2	MCF-7	breast:
11	chr11:85445751..85448371-chr11:85941133..85943891,2	MCF-7	breast:
12	chr11:85460295..85462125-chr11:85496572..85498601,2	MCF-7	breast:
13	chr11:85427809..85429920-chr11:85433567..85435878,3	MCF-7	breast:
14	chr11:85446570..85449228-chr11:85451047..85454870,3	MCF-7	breast:
15	chr11:85446570..85449228-chr11:85451047..85454870,3	MCF-7	breast:
16	chr11:85460961..85463869-chr11:85465217..85468287,3	MCF-7	breast:
17	chr11:85456923..85462918-chr11:85517727..85523482,9	MCF-7	breast:
18	chr11:85459647..85463395-chr11:85466382..85468116,3	K562	blood:
19	chr11:85449862..85452666-chr3:62852459..62854509,2	MCF-7	breast:
20	chr11:85468435..85470460-chr11:85522182..85523762,2	MCF-7	breast:
21	chr11:85456348..85458453-chr11:85459854..85462602,2	K562	blood:
22	chr11:85444504..85447684-chr11:85505412..85508647,3	MCF-7	breast:
23	chr11:85469322..85470979-chr11:85520431..85523173,2	MCF-7	breast:
24	chr11:85461055..85463214-chr11:85468718..85471214,2	MCF-7	breast:
25	chr11:85433132..85435744-chr11:85522806..85525692,2	MCF-7	breast:
26	chr11:85449141..85453316-chr11:85456820..85460896,4	MCF-7	breast:
27	chr11:85432781..85434564-chr11:85442681..85445528,2	MCF-7	breast:
28	chr11:85447416..85450012-chr11:85465090..85467738,2	MCF-7	breast:
29	chr11:85374586..85376226-chr11:85456033..85458381,2	K562	blood:
30	chr11:85373496..85375971-chr11:85442950..85444857,2	MCF-7	breast:
31	chr11:85374169..85377247-chr11:85434867..85438072,3	MCF-7	breast:
32	chr11:85459647..85463395-chr11:85466382..85468116,3	K562	blood:
33	chr11:85433923..85435734-chr11:85518099..85520604,2	MCF-7	breast:
34	chr11:85447110..85449601-chr11:85539919..85542813,2	MCF-7	breast:
35	chr11:85456897..85461654-chr11:85539528..85543738,6	MCF-7	breast:
36	chr11:85460961..85463869-chr11:85465217..85468287,3	MCF-7	breast:
37	chr11:85447411..85449377-chr11:85521136..85523499,2	MCF-7	breast:
38	chr11:85434029..85438059-chr11:85455702..85460015,5	MCF-7	breast:
39	chr11:85430781..85433694-chr11:85551714..85553918,2	MCF-7	breast:
40	chr11:85470667..85472897-chr11:85479422..85481165,2	K562	blood:
41	chr11:85466013..85467547-chr11:85470379..85472711,2	MCF-7	breast:
42	chr11:85449712..85452124-chr11:85536910..85538885,2	MCF-7	breast:
43	chr11:85374803..85376402-chr11:85446135..85448325,2	MCF-7	breast:
44	chr11:85452078..85454739-chr11:85520232..85522927,2	MCF-7	breast:
45	chr11:85435149..85436971-chr11:85444294..85447151,2	MCF-7	breast:
46	chr11:85463747..85466661-chr11:85473937..85475998,2	MCF-7	breast:
47	chr11:85470232..85471819-chr11:85473605..85475832,2	K562	blood:
48	chr11:85374651..85376629-chr11:85434195..85435833,2	MCF-7	breast:
49	chr11:85445267..85447565-chr11:85447614..85449688,2	MCF-7	breast:
50	chr11:85445028..85447969-chr11:85452486..85454600,2	K562	blood:

(count:5 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1713 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1713 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs290193	chr11:85429074-85429075	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561428746	chr11:85429087-85429088	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs199883037	chr11:85429092-85429093	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs112029062	chr11:85429095-85429096	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs73502585	chr11:85429152-85429153	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181877601	chr11:85429184-85429185	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs532414012	chr11:85429196-85429197	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs558893335	chr11:85429252-85429253	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs186555217	chr11:85429270-85429271	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs150764346	chr11:85429294-85429295	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529910470	chr11:85429347-85429348	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs190612729	chr11:85429364-85429365	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs569714494	chr11:85429372-85429373	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs377145319	chr11:85429452-85429453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs551980431	chr11:85429454-85429455	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs181440706	chr11:85429472-85429473	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs549875759	chr11:85429593-85429594	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs186785260	chr11:85429607-85429608	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs370578166	chr11:85429677-85429678	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs552125332	chr11:85429696-85429697	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs571626346	chr11:85429710-85429711	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs569770309	chr11:85429722-85429723	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs538908544	chr11:85429736-85429737	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs529706652	chr11:85429754-85429755	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs553951308	chr11:85429765-85429766	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs115218567	chr11:85429810-85429811	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371153408	chr11:85429814-85429815	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374162746	chr11:85429818-85429819	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs367707072	chr11:85429828-85429829	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs114609010	chr11:85429852-85429853	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs114810966	chr11:85429860-85429861	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs115283647	chr11:85429871-85429872	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs372017034	chr11:85429929-85429930	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs191296454	chr11:85429965-85429966	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs183100374	chr11:85429987-85429988	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs577211824	chr11:85430053-85430054	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs187791476	chr11:85430174-85430175	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs189859206	chr11:85430185-85430186	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs570282713	chr11:85430217-85430218	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs35381992	chr11:85430229-85430230	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs541982642	chr11:85430250-85430251	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs563257940	chr11:85430251-85430252	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs536796036	chr11:85430369-85430370	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs74468168	chr11:85430380-85430381	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs551897434	chr11:85430381-85430382	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs570069468	chr11:85430390-85430391	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs678376	chr11:85430397-85430398	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs547726011	chr11:85430411-85430412	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs566018715	chr11:85430414-85430415	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs536474757	chr11:85430427-85430428	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 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:1219 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85396800-85429800	Weak transcription	Stomach Mucosa	stomach
2	chr11:85397200-85438600	Weak transcription	Colonic Mucosa	Colon
3	chr11:85397800-85430000	Weak transcription	Ovary	ovary
4	chr11:85406200-85429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:85412000-85436800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:85412000-85438000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:85413600-85429600	Weak transcription	Fetal Stomach	stomach
8	chr11:85413800-85430000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:85417600-85453000	Weak transcription	Gastric	stomach
10	chr11:85418400-85436400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:85422400-85430200	Weak transcription	Fetal Kidney	kidney
12	chr11:85422600-85448600	Weak transcription	Fetal Intestine Large	intestine
13	chr11:85422800-85448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:85423000-85429800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:85423600-85430000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:85424000-85448600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:85424600-85429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:85425600-85429600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:85425600-85429800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:85425800-85429600	Weak transcription	Primary T cells from cord blood	blood
21	chr11:85425800-85429600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:85427000-85430600	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr11:85427200-85429600	Active TSS	Fetal Muscle Leg	muscle
24	chr11:85427200-85430200	Active TSS	NHLF	lung
25	chr11:85427200-85430600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:85427200-85430600	Active TSS	Fetal Muscle Trunk	muscle
27	chr11:85427200-85433000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:85427400-85430600	Active TSS	HSMMtube	muscle
29	chr11:85427600-85429600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:85427600-85429600	Active TSS	NH-A	brain
31	chr11:85427600-85429800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:85427600-85430400	Active TSS	NHDF-Ad	bronchial
33	chr11:85427800-85429200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:85427800-85429600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:85427800-85429800	Weak transcription	Psoas Muscle	Psoas
36	chr11:85427800-85430000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:85427800-85430600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:85428200-85430600	Active TSS	HSMM	muscle
39	chr11:85428400-85429600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:85428400-85429600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:85428400-85430200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:85428400-85430600	Active TSS	Brain Angular Gyrus	brain
43	chr11:85428600-85429400	Enhancers	Osteobl	bone
44	chr11:85428600-85429600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:85428600-85429600	Enhancers	Brain Cingulate Gyrus	brain
46	chr11:85428600-85429800	Flanking Active TSS	A549	lung
47	chr11:85428600-85430000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:85428600-85430800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr11:85428600-85431000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:85428600-85432000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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