Variant report

Variant	esv3356975
Chromosome Location	chr11:67270401-67273249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:339)
CpG islands
(count:305)
Chromatin interactive
region (count:73)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:67272233-67272428	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr11:67272947-67274057	A549	lung:	n/a	n/a
3	BCL3	chr11:67272862-67273981	A549	lung:	n/a	chr11:67272937-67272946 chr11:67272921-67272934
4	BRCA1	chr11:67270418-67270419	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr11:67272955-67273889	Hela-S3	cervix:	n/a	n/a
6	CBX3	chr11:67273202-67273952	K562	blood:	n/a	n/a
7	CCNT2	chr11:67271695-67273022	K562	blood:	n/a	chr11:67272733-67272742 chr11:67272873-67272882
8	CEBPB	chr11:67273186-67273889	Hela-S3	cervix:	n/a	n/a
9	CEBPD	chr11:67272550-67273096	HepG2	liver:	n/a	n/a
10	CHD1	chr11:67271489-67275717	IMR90	lung:	n/a	chr11:67272871-67272881
11	CHD1	chr11:67272919-67273135	GM12878	blood:	n/a	n/a
12	CHD2	chr11:67272328-67273925	Hela-S3	cervix:	n/a	chr11:67272871-67272881
13	CHD2	chr11:67271994-67271997	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr11:67272456-67273078	GM12878	blood:	n/a	chr11:67272871-67272881
15	CREB1	chr11:67272590-67273117	K562	blood:	n/a	n/a
16	CREB1	chr11:67272756-67272958	A549	lung:	n/a	n/a
17	CREB1	chr11:67272194-67273992	GM12878	blood:	n/a	n/a
18	CREB1	chr11:67271737-67272162	A549	lung:	n/a	n/a
19	CREB1	chr11:67271748-67274018	HepG2	liver:	n/a	n/a
20	CREB1	chr11:67272609-67273032	H1-hESC	embryonic stem cell:	n/a	n/a
21	CREB1	chr11:67272423-67273070	A549	lung:	n/a	n/a
22	CTCF	chr11:67273160-67273310	GM12865	blood:	n/a	chr11:67273211-67273224
23	CTCF	chr11:67273200-67273350	HepG2	liver:	n/a	chr11:67273211-67273224
24	CTCF	chr11:67272060-67272210	AG04449	skin:	n/a	chr11:67272063-67272076 chr11:67272092-67272105
25	CTCF	chr11:67273240-67273390	HEK293	kidney:	n/a	n/a
26	CTCF	chr11:67272840-67272990	GM12868	blood:	n/a	n/a
27	CTCF	chr11:67272340-67272490	GM12871	blood:	n/a	n/a
28	CTCF	chr11:67272044-67274535	SK-N-SH	brain:	n/a	chr11:67273761-67273770 chr11:67273757-67273770 chr11:67273750-67273771 chr11:67273760-67273773 chr11:67273758-67273768 chr11:67272063-67272076 chr11:67272092-67272105 chr11:67273211-67273224 chr11:67273756-67273772 chr11:67273755-67273773
29	CTCF	chr11:67273240-67273390	GM12868	blood:	n/a	n/a
30	CTCF	chr11:67272561-67275214	A549	lung:	n/a	chr11:67273761-67273770 chr11:67273757-67273770 chr11:67273750-67273771 chr11:67273760-67273773 chr11:67273758-67273768 chr11:67274999-67275012 chr11:67273211-67273224 chr11:67273756-67273772 chr11:67273755-67273773
31	CTCF	chr11:67273211-67274402	HCT-116	colon:	n/a	chr11:67273761-67273770 chr11:67273757-67273770 chr11:67273750-67273771 chr11:67273760-67273773 chr11:67273758-67273768 chr11:67273211-67273224 chr11:67273756-67273772 chr11:67273755-67273773
32	CTCF	chr11:67273220-67273370	HCFaa	heart:	n/a	n/a
33	CTCF	chr11:67273160-67273310	HRE	kidney:	n/a	chr11:67273211-67273224
34	CTCF	chr11:67272340-67272490	AG04449	skin:	n/a	n/a
35	CUX1	chr11:67273126-67273149	K562	blood:	n/a	n/a
36	E2F4	chr11:67273244-67273858	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F6	chr11:67272506-67272955	K562	blood:	n/a	chr11:67272873-67272882 chr11:67272823-67272833
38	E2F6	chr11:67272211-67272496	K562	blood:	n/a	n/a
39	E2F6	chr11:67271684-67272074	K562	blood:	n/a	chr11:67271971-67271983 chr11:67272042-67272051
40	EBF1	chr11:67273150-67273938	GM12878	blood:	n/a	n/a
41	EGR1	chr11:67272725-67273074	K562	blood:	n/a	chr11:67272872-67272882 chr11:67272928-67272938
42	EGR1	chr11:67271757-67272060	K562	blood:	n/a	chr11:67272043-67272056
43	EGR1	chr11:67272789-67273019	GM12878	blood:	n/a	chr11:67272872-67272882 chr11:67272928-67272938
44	ELF1	chr11:67273125-67273939	A549	lung:	n/a	n/a
45	ELF1	chr11:67273193-67273910	K562	blood:	n/a	n/a
46	ELF1	chr11:67271335-67273967	GM12878	blood:	n/a	chr11:67271675-67271687 chr11:67272739-67272751 chr11:67272757-67272769
47	ELF1	chr11:67272724-67273107	K562	blood:	n/a	chr11:67272739-67272751 chr11:67272757-67272769
48	ELF1	chr11:67272960-67273991	MCF-7	breast:	n/a	n/a
49	ELF1	chr11:67272434-67273022	GM12878	blood:	n/a	chr11:67272739-67272751 chr11:67272757-67272769
50	ELF1	chr11:67271769-67273065	K562	blood:	n/a	chr11:67272739-67272751 chr11:67272757-67272769

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67272636-67272686	AG09319	gingival:	n/a
2	chr11:67272202-67272252	IMR90	lung:	fetal
3	chr11:67270800-67270850	AG09309	skin:	n/a
4	chr11:67272980-67273030	GM12878	blood:	n/a
5	chr11:67272636-67272686	GM12892	blood:	n/a
6	chr11:67270800-67270850	IMR90	lung:	fetal
7	chr11:67272636-67272686	RPTEC	kidney:	n/a
8	chr11:67272202-67272252	GM12878	blood:	n/a
9	chr11:67272980-67273030	HEK293	kidney:	embryo
10	chr11:67272980-67273030	HCM	heart:	n/a
11	chr11:67272636-67272686	HMEC	breast:	n/a
12	chr11:67270800-67270850	GM12892	blood:	n/a
13	chr11:67270800-67270850	HCPEpiC	choroid plexus:	n/a
14	chr11:67272202-67272252	NT2-D1	testis:	n/a
15	chr11:67272980-67273030	Hepatocyte	liver:	n/a
16	chr11:67271660-67271710	MCF-7	breast:	n/a
17	chr11:67272202-67272252	HEEpiC	esophagus:	n/a
18	chr11:67271660-67271710	H1-hESC	embryonic stem cell:	embryo
19	chr11:67270800-67270850	NHDF-neo	bronchial:	n/a
20	chr11:67272980-67273030	U87	brain:	n/a
21	chr11:67272980-67273030	SK-N-SH	brain:	n/a
22	chr11:67272980-67273030	GM12892	blood:	n/a
23	chr11:67272202-67272252	NB4	blood:	n/a
24	chr11:67272202-67272252	SK-N-MC	brain:	n/a
25	chr11:67272980-67273030	HAEpiC	amniotic membrane:	n/a
26	chr11:67272636-67272686	GM12878	blood:	n/a
27	chr11:67272202-67272252	U87	brain:	n/a
28	chr11:67272636-67272686	SK-N-MC	brain:	n/a
29	chr11:67272202-67272252	HRPEpiC	eye:	n/a
30	chr11:67272636-67272686	Caco-2	colon:	n/a
31	chr11:67272636-67272686	Jurkat	blood:	n/a
32	chr11:67272202-67272252	SK-N-SH_RA	brain:	n/a
33	chr11:67271660-67271710	Hepatocyte	liver:	n/a
34	chr11:67270800-67270850	PANC-1	pancreas:	n/a
35	chr11:67272202-67272252	A549	lung:	n/a
36	chr11:67270800-67270850	NHBE	bronchial:	n/a
37	chr11:67272980-67273030	Hela-S3	cervix:	n/a
38	chr11:67270800-67270850	SK-N-SH	brain:	n/a
39	chr11:67270800-67270850	PrEC	prostate:	n/a
40	chr11:67272636-67272686	SK-N-SH	brain:	n/a
41	chr11:67271660-67271710	BE2_C	brain:	n/a
42	chr11:67272636-67272686	NHDF-neo	bronchial:	n/a
43	chr11:67270800-67270850	GM06990	blood:	n/a
44	chr11:67271660-67271710	HCPEpiC	choroid plexus:	n/a
45	chr11:67271660-67271710	SKMC	muscle:	n/a
46	chr11:67272980-67273030	HCPEpiC	choroid plexus:	n/a
47	chr11:67272636-67272686	Hepatocyte	liver:	n/a
48	chr11:67272202-67272252	AoSMC	blood vessel:	n/a
49	chr11:67272636-67272686	HAEpiC	amniotic membrane:	n/a
50	chr11:67271660-67271710	Jurkat	blood:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:67168005..67170770-chr11:67269467..67273329,6	K562	blood:
2	chr11:67272571..67273414-chr19:18263836..18264400,2	Hela-S3	cervix:
3	chr11:67166559..67171272-chr11:67271633..67274655,6	MCF-7	breast:
4	chr11:67272321..67272984-chr5:1523828..1524404,2	Hela-S3	cervix:
5	chr11:67272431..67272982-chr17:56709064..56709697,2	Hela-S3	cervix:
6	chr11:67180570..67183103-chr11:67271029..67272927,2	K562	blood:
7	chr11:67256017..67258793-chr11:67272672..67274747,2	MCF-7	breast:
8	chr11:67273134..67273943-chr9:111775445..111776120,2	Hela-S3	cervix:
9	chr11:67234460..67237754-chr11:67271882..67275850,7	MCF-7	breast:
10	chr11:67194364..67200337-chr11:67272800..67277654,9	MCF-7	breast:
11	chr11:67157498..67160851-chr11:67271704..67276538,6	K562	blood:
12	chr11:67174684..67176198-chr11:67271900..67273931,2	K562	blood:
13	chr11:67207285..67211032-chr11:67270341..67273194,4	K562	blood:
14	chr11:67272941..67273649-chr7:6120784..6121607,2	Hela-S3	cervix:
15	chr11:67269985..67274388-chr11:67349964..67354078,4	K562	blood:
16	chr11:67164491..67170697-chr11:67268115..67277759,17	MCF-7	breast:
17	chr11:67272981..67273646-chr15:59949206..59949739,2	Hela-S3	cervix:
18	chr11:67230107..67238941-chr11:67268499..67277838,23	MCF-7	breast:
19	chr11:67272308..67272858-chr5:176943726..176944588,2	Hela-S3	cervix:
20	chr11:67209787..67211313-chr11:67271082..67272865,2	MCF-7	breast:
21	chr11:67168546..67169541-chr11:67273014..67274216,5	K562	blood:
22	chr11:67182567..67190511-chr11:67270739..67276166,13	MCF-7	breast:
23	chr11:67272601..67273528-chr6:111279416..111280069,2	Hela-S3	cervix:
24	chr11:62622875..62623807-chr11:67272781..67273674,2	Hela-S3	cervix:
25	chr11:67269882..67273775-chr11:67275933..67278364,3	MCF-7	breast:
26	chr11:67201617..67208575-chr11:67270788..67277143,13	K562	blood:
27	chr11:67202629..67203491-chr11:67273232..67273781,2	K562	blood:
28	chr11:67186666..67189529-chr11:67272076..67275550,4	K562	blood:
29	chr11:67207904..67210724-chr11:67272140..67274356,2	MCF-7	breast:
30	chr11:67249912..67253635-chr11:67270546..67273534,5	K562	blood:
31	chr11:67156232..67161608-chr11:67271298..67276147,11	MCF-7	breast:
32	chr11:67271930..67272668-chr14:102553152..102554062,2	Hela-S3	cervix:
33	chr1:154934182..154934932-chr11:67272472..67273064,2	Hela-S3	cervix:
34	chr11:67271788..67274805-chr11:67372108..67375948,3	K562	blood:
35	chr11:67272678..67273647-chr4:79473066..79473795,2	Hela-S3	cervix:
36	chr11:67070027..67071819-chr11:67270841..67273414,2	MCF-7	breast:
37	chr11:67272308..67273879-chr17:62223283..62223939,4	Hela-S3	cervix:
38	chr11:67157917..67161280-chr11:67271512..67274163,3	MCF-7	breast:
39	chr11:67249454..67253550-chr11:67271231..67274487,6	MCF-7	breast:
40	chr11:67272403..67272918-chr12:7053158..7054007,2	Hela-S3	cervix:
41	chr11:67272770..67273516-chr15:41624909..41625726,2	Hela-S3	cervix:
42	chr11:67272900..67273678-chr3:170587330..170588036,2	Hela-S3	cervix:
43	chr11:67272696..67275492-chr11:67373280..67375901,2	MCF-7	breast:
44	chr11:67164456..67171429-chr11:67268926..67279263,19	K562	blood:
45	chr11:67269844..67272585-chr11:67351352..67354034,3	K562	blood:
46	chr11:67231914..67232687-chr11:67272887..67273769,2	NB4	blood:
47	chr11:67247191..67252288-chr11:67270350..67277699,12	MCF-7	breast:
48	chr1:65720017..65720703-chr11:67272642..67273542,2	Hela-S3	cervix:
49	chr11:67118066..67122624-chr11:67272137..67276691,11	MCF-7	breast:
50	chr11:67161941..67164521-chr11:67269135..67270716,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDK2AP2-1	chr11:67271311-67271347	NONHSAT022435
2	lnc-CDK2AP2-1	chr11:67272659-67272810	NONHSAT022435
3	lnc-CDK2AP2-1	chr11:67271574-67271692	NONHSAT022435

No data

Variant related genes	Relation type
PITPNM1	TF binding region
PITPNM1	CpG island
ENSG00000119004	chromatin interactions
ENSG00000112245	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000253024	chromatin interactions
ENSG00000137804	chromatin interactions
ENSG00000084207	chromatin interactions
ENSG00000175482	chromatin interactions
ENSG00000255949	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000167792	chromatin interactions
ENSG00000105647	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000110711	chromatin interactions
ENSG00000155115	chromatin interactions
ENSG00000172663	chromatin interactions
ENSG00000231704	chromatin interactions
ENSG00000268173	chromatin interactions
ENSG00000266680	chromatin interactions
ENSG00000129235	chromatin interactions
ENSG00000104064	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000255874	chromatin interactions
ENSG00000120334	chromatin interactions
ENSG00000138772	chromatin interactions
ENSG00000168003	chromatin interactions
ENSG00000152620	chromatin interactions
ENSG00000172725	chromatin interactions
ENSG00000175634	chromatin interactions
ENSG00000116675	chromatin interactions
ENSG00000172830	chromatin interactions
ENSG00000153395	chromatin interactions
ENSG00000172508	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000140307	chromatin interactions
ENSG00000080824	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000255119	chromatin interactions
ENSG00000184224	chromatin interactions
ENSG00000163584	chromatin interactions
ENSG00000117289	chromatin interactions
ENSG00000213402	chromatin interactions
ENSG00000145632	chromatin interactions
ENSG00000175463	chromatin interactions
ENSG00000082641	chromatin interactions
ENSG00000255717	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000187742	chromatin interactions
ENSG00000163348	chromatin interactions
ENSG00000117593	chromatin interactions
ENSG00000272173	chromatin interactions
ENSG00000196123	chromatin interactions
ENSG00000271380	chromatin interactions
ENSG00000172613	chromatin interactions
ENSG00000183258	chromatin interactions
ENSG00000119326	chromatin interactions
ENSG00000167797	chromatin interactions
ENSG00000244879	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550480814	chr11:67270418-67270419	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs189612397	chr11:67270493-67270494	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs181107785	chr11:67270532-67270533	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs114866985	chr11:67270572-67270573	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs566230806	chr11:67270605-67270606	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs34388547	chr11:67270774-67270775	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs533934154	chr11:67270779-67270780	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs551975155	chr11:67270883-67270884	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs563083478	chr11:67270901-67270902	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs570659453	chr11:67270909-67270910	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs537621958	chr11:67270920-67270921	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs151063782	chr11:67270994-67270995	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs574744358	chr11:67271000-67271001	Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs186034039	chr11:67271013-67271014	Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs568441068	chr11:67271075-67271076	Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs377538360	chr11:67271076-67271077	Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs368548378	chr11:67271081-67271082	Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs554256765	chr11:67271082-67271083	Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs113233693	chr11:67271083-67271084	Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs572341912	chr11:67271142-67271143	Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs530614717	chr11:67271149-67271150	Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs564405012	chr11:67271340-67271341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
23	rs568479779	chr11:67271348-67271349	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs190888437	chr11:67271398-67271399	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs182204370	chr11:67271459-67271460	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs570683575	chr11:67271486-67271487	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs562051505	chr11:67271490-67271491	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs529495167	chr11:67271499-67271500	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs200936467	chr11:67271547-67271548	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs371546107	chr11:67271567-67271568	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs375014717	chr11:67271658-67271659	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
32	rs368944746	chr11:67271664-67271665	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
33	rs371909839	chr11:67271698-67271699	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs375839224	chr11:67271699-67271700	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs369946029	chr11:67271700-67271701	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs552276556	chr11:67271704-67271705	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs570418791	chr11:67271715-67271716	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs538054718	chr11:67271747-67271748	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs549957324	chr11:67271753-67271754	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs568259551	chr11:67271758-67271759	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs535790322	chr11:67271819-67271820	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs554095049	chr11:67271905-67271906	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs113157094	chr11:67271936-67271937	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
44	rs111446511	chr11:67271950-67271951	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
45	rs186517510	chr11:67272000-67272001	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
46	rs12795321	chr11:67272023-67272024	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
47	rs112424672	chr11:67272042-67272043	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
48	rs539425330	chr11:67272074-67272075	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs191023242	chr11:67272101-67272102	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs141014608	chr11:67272251-67272252	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:626 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67251000-67271000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:67251400-67271200	Weak transcription	HSMM	muscle
3	chr11:67251400-67271400	Weak transcription	HUVEC	blood vessel
4	chr11:67251600-67270600	Weak transcription	Fetal Heart	heart
5	chr11:67251600-67271400	Weak transcription	NHDF-Ad	bronchial
6	chr11:67252600-67271600	Weak transcription	Psoas Muscle	Psoas
7	chr11:67252800-67271400	Weak transcription	Right Atrium	heart
8	chr11:67254000-67270800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:67254000-67271000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:67254400-67270600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:67254400-67271200	Weak transcription	K562	blood
12	chr11:67254600-67270600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:67254800-67270800	Strong transcription	Duodenum Mucosa	Duodenum
14	chr11:67254800-67271000	Weak transcription	HepG2	liver
15	chr11:67255800-67272000	Weak transcription	Fetal Kidney	kidney
16	chr11:67256400-67270800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:67256600-67270600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:67257400-67270800	Strong transcription	Fetal Thymus	thymus
19	chr11:67257400-67270800	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:67257600-67270600	Weak transcription	Stomach Mucosa	stomach
21	chr11:67257600-67271200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:67257800-67271200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:67258000-67270600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:67258000-67270800	Weak transcription	HMEC	breast
25	chr11:67258000-67271200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:67259800-67271200	Weak transcription	Ovary	ovary
27	chr11:67260000-67271000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:67260400-67270600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:67260400-67271200	Weak transcription	Brain Substantia Nigra	brain
30	chr11:67260400-67271200	Weak transcription	Fetal Lung	lung
31	chr11:67260600-67270600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:67260600-67270600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:67261200-67270600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:67261600-67271400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:67261800-67270600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:67262800-67270600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:67262800-67271400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:67263600-67270800	Weak transcription	Small Intestine	intestine
39	chr11:67265600-67271400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:67266400-67270600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:67266400-67270800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:67267800-67271000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:67267800-67271000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:67267800-67271200	Weak transcription	Aorta	Aorta
45	chr11:67268000-67270800	Genic enhancers	Monocytes-CD14+_RO01746	blood
46	chr11:67268200-67270800	Strong transcription	Primary T cells from cord blood	blood
47	chr11:67268200-67271000	Weak transcription	Adipose Nuclei	Adipose
48	chr11:67268400-67270600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:67268400-67270800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:67268400-67271000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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