Variant report

Variant	esv3425337
Chromosome Location	chr11:57416201-57418749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:57417312-57417584	K562	blood:	n/a	n/a
2	ATF2	chr11:57415861-57417283	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr11:57417297-57418086	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr11:57417296-57418126	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr11:57416220-57417248	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:57418176-57418664	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr11:57417290-57417581	K562	blood:	n/a	n/a
8	BCL3	chr11:57414037-57418152	A549	lung:	n/a	chr11:57415102-57415111 chr11:57416249-57416262 chr11:57417016-57417025
9	BCL3	chr11:57415639-57417177	A549	lung:	n/a	chr11:57416249-57416262 chr11:57417016-57417025
10	BCL3	chr11:57417230-57417745	A549	lung:	n/a	n/a
11	BHLHE40	chr11:57416553-57416992	GM12878	blood:	n/a	n/a
12	BHLHE40	chr11:57416593-57416848	K562	blood:	n/a	n/a
13	CBX3	chr11:57415522-57416232	K562	blood:	n/a	n/a
14	CEBPD	chr11:57415527-57416206	K562	blood:	n/a	n/a
15	CEBPD	chr11:57415567-57416208	K562	blood:	n/a	n/a
16	CHD1	chr11:57416559-57417007	GM12878	blood:	n/a	n/a
17	CHD1	chr11:57416311-57417197	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr11:57413968-57418190	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr11:57416947-57416952	HepG2	liver:	n/a	n/a
20	CHD2	chr11:57416545-57417102	GM12878	blood:	n/a	n/a
21	CHD2	chr11:57417313-57417603	GM12878	blood:	n/a	n/a
22	CREB1	chr11:57415543-57416225	K562	blood:	n/a	n/a
23	CREB1	chr11:57417293-57417608	A549	lung:	n/a	n/a
24	CREB1	chr11:57416144-57417782	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr11:57417143-57417674	K562	blood:	n/a	n/a
26	CREB1	chr11:57417285-57417647	A549	lung:	n/a	n/a
27	CREB1	chr11:57417321-57417694	ECC-1	luminal epithelium:	n/a	n/a
28	CREB1	chr11:57417149-57417752	GM12878	blood:	n/a	n/a
29	CREB1	chr11:57417177-57417746	K562	blood:	n/a	n/a
30	CREB1	chr11:57416518-57417871	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTBP2	chr11:57415650-57417186	H1-hESC	embryonic stem cell:	n/a	n/a
32	E2F6	chr11:57416609-57416791	K562	blood:	n/a	n/a
33	EBF1	chr11:57416571-57416785	GM12878	blood:	n/a	n/a
34	EGR1	chr11:57417283-57417580	K562	blood:	n/a	chr11:57417436-57417451
35	EGR1	chr11:57417300-57417578	K562	blood:	n/a	chr11:57417436-57417451
36	ELF1	chr11:57415774-57416391	GM12878	blood:	n/a	chr11:57415815-57415826
37	ELF1	chr11:57417308-57417775	A549	lung:	n/a	n/a
38	ELF1	chr11:57416433-57417142	A549	lung:	n/a	chr11:57417101-57417112
39	EP300	chr11:57417320-57417534	K562	blood:	n/a	chr11:57417326-57417342 chr11:57417417-57417426
40	EP300	chr11:57417331-57417674	GM12878	blood:	n/a	chr11:57417417-57417426
41	EP300	chr11:57416629-57417100	GM12878	blood:	n/a	chr11:57416753-57416767
42	EP300	chr11:57417440-57417485	GM12878	blood:	n/a	n/a
43	EP300	chr11:57416615-57416904	GM12878	blood:	n/a	chr11:57416753-57416767
44	EP300	chr11:57417297-57417643	SK-N-SH_RA	brain:	n/a	chr11:57417326-57417342 chr11:57417417-57417426
45	FOS	chr11:57417318-57417578	HUVEC	blood vessel:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417414-57417425
46	FOS	chr11:57417245-57417582	MCF10A-Er-Src	breast:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417414-57417425
47	FOS	chr11:57417360-57417503	MCF10A-Er-Src	breast:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417414-57417425
48	FOS	chr11:57417336-57417536	MCF10A-Er-Src	breast:	n/a	chr11:57417418-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417414-57417425
49	FOSL1	chr11:57417244-57417622	K562	blood:	n/a	chr11:57417418-57417427 chr11:57417416-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417414-57417425
50	FOSL1	chr11:57417303-57417607	K562	blood:	n/a	chr11:57417418-57417427 chr11:57417416-57417427 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417414-57417425

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57418566-57418616	IMR90	lung:	fetal
2	chr11:57418566-57418616	IMR90	lung:	fetal
3	chr11:57417949-57417999	GM19239	blood:	n/a
4	chr11:57417368-57417418	GM06990	blood:	n/a
5	chr11:57417368-57417418	CMK	blood:	n/a
6	chr11:57417974-57418024	GM12891	blood:	n/a
7	chr11:57416254-57416304	Hepatocyte	liver:	n/a
8	chr11:57418566-57418616	SKMC	muscle:	n/a
9	chr11:57417368-57417418	Caco-2	colon:	n/a
10	chr11:57416254-57416304	PANC-1	pancreas:	n/a
11	chr11:57416254-57416304	U87	brain:	n/a
12	chr11:57417974-57418024	AG09319	gingival:	n/a
13	chr11:57417368-57417418	HMEC	breast:	n/a
14	chr11:57417949-57417999	HRCEpiC	kidney:	n/a
15	chr11:57417974-57418024	ECC-1	luminal epithelium:	n/a
16	chr11:57416254-57416304	HMEC	breast:	n/a
17	chr11:57417949-57417999	PrEC	prostate:	n/a
18	chr11:57417949-57417999	SK-N-MC	brain:	n/a
19	chr11:57417368-57417418	NT2-D1	testis:	n/a
20	chr11:57417368-57417418	HRCEpiC	kidney:	n/a
21	chr11:57417974-57418024	HEK293	kidney:	embryo
22	chr11:57417974-57418024	PFSK-1	brain:	n/a
23	chr11:57416254-57416304	GM12878	blood:	n/a
24	chr11:57417974-57418024	SKMC	muscle:	n/a
25	chr11:57417368-57417418	T-47D	breast:	n/a
26	chr11:57418566-57418616	ovcar-3	ovarian:	n/a
27	chr11:57417949-57417999	MCF-7	breast:	n/a
28	chr11:57418566-57418616	NB4	blood:	n/a
29	chr11:57417949-57417999	Hela-S3	cervix:	n/a
30	chr11:57417949-57417999	NHBE	bronchial:	n/a
31	chr11:57417974-57418024	SK-N-MC	brain:	n/a
32	chr11:57418566-57418616	AG10803	skin:	n/a
33	chr11:57417368-57417418	HCPEpiC	choroid plexus:	n/a
34	chr11:57417974-57418024	HNPCEpiC	eye:	n/a
35	chr11:57417949-57417999	HL-60	blood:	n/a
36	chr11:57417974-57418024	HMEC	breast:	n/a
37	chr11:57417368-57417418	AoSMC	blood vessel:	n/a
38	chr11:57417974-57418024	HL-60	blood:	n/a
39	chr11:57417368-57417418	Jurkat	blood:	n/a
40	chr11:57417368-57417418	HCT-116	colon:	n/a
41	chr11:57417949-57417999	HCF	heart:	n/a
42	chr11:57416254-57416304	Jurkat	blood:	n/a
43	chr11:57416254-57416304	HUVEC	blood vessel:	n/a
44	chr11:57416254-57416304	HCM	heart:	n/a
45	chr11:57417368-57417418	MCF-7	breast:	n/a
46	chr11:57417974-57418024	HRPEpiC	eye:	n/a
47	chr11:57416254-57416304	HRE	kidney:	n/a
48	chr11:57417974-57418024	Hela-S3	cervix:	n/a
49	chr11:57417368-57417418	SK-N-SH_RA	brain:	n/a
50	chr11:57417949-57417999	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr11:57417074..57418991-chr11:57424889..57426673,2	K562	blood:
2	chr11:57416509..57419295-chr11:57509568..57512318,2	K562	blood:
3	chr11:57325867..57327995-chr11:57414658..57417368,2	K562	blood:
4	chr11:57414343..57418921-chr11:57423216..57427343,7	K562	blood:
5	chr11:57415844..57417828-chr11:57434244..57436938,3	K562	blood:
6	chr11:57114064..57115685-chr11:57415196..57416779,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZDHHC5-1	chr11:57417771-57418248	ENSG00000254602.1
2	lnc-ZDHHC5-1	chr11:57416692-57416732	ENSG00000254602.1
3	lnc-ZDHHC5-1	chr11:57417771-57418286	ENSG00000254602.1
4	lnc-YPEL4-1	chr11:57417158-57417411	NONHSAT021429
5	lnc-ZDHHC5-1	chr11:57417771-57418182	ENSG00000254602.1
6	lnc-ZDHHC5-1	chr11:57417771-57420263	ENSG00000254602.1
7	lnc-YPEL4-1	chr11:57415933-57416256	NONHSAT021431
8	lnc-YPEL4-1	chr11:57417158-57417409	NONHSAT021431
9	lnc-ZDHHC5-1	chr11:57417771-57418205	ENSG00000254602.1

Variant related genes	Relation type
YPEL4	TF binding region
CLP1	TF binding region
ENSG00000254602	TF binding region
YPEL4	CpG island
CLP1	CpG island
ENSG00000254602	CpG island
ENSG00000172409	chromatin interactions
ENSG00000254732	chromatin interactions
ENSG00000109991	chromatin interactions
ENSG00000156599	chromatin interactions
ENSG00000156587	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545730367	chr11:57416217-57416218	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
2	rs369194931	chr11:57416242-57416243	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
3	rs191605327	chr11:57416245-57416246	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
4	rs80261186	chr11:57416246-57416247	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
5	rs560840272	chr11:57416263-57416264	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs181239879	chr11:57416309-57416310	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs549863794	chr11:57416413-57416414	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs371870369	chr11:57416429-57416430	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs186225885	chr11:57416432-57416433	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs538454427	chr11:57416493-57416494	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs189765959	chr11:57416539-57416540	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs565850450	chr11:57416614-57416615	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs563698217	chr11:57416649-57416650	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs531246217	chr11:57416699-57416700	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
15	rs182165676	chr11:57416770-57416771	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs555342011	chr11:57416774-57416775	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs573657340	chr11:57416798-57416799	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs537989831	chr11:57416823-57416824	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs556378617	chr11:57416885-57416886	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs550872023	chr11:57416959-57416960	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs578144184	chr11:57417030-57417031	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs545257786	chr11:57417037-57417038	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs370368614	chr11:57417188-57417189	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
24	rs567611183	chr11:57417337-57417338	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
25	rs560704216	chr11:57417340-57417341	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
26	rs572799184	chr11:57417360-57417361	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
27	rs543298066	chr11:57417432-57417433	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs560879279	chr11:57417439-57417440	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs536557120	chr11:57417441-57417442	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs560875737	chr11:57417445-57417446	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs187958279	chr11:57417465-57417466	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs543592898	chr11:57417481-57417482	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs564809349	chr11:57417547-57417548	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs532195755	chr11:57417556-57417557	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs111508159	chr11:57417620-57417621	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs547292807	chr11:57417623-57417624	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs150131128	chr11:57417676-57417677	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs190882377	chr11:57417692-57417693	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs138648442	chr11:57417751-57417752	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs548070322	chr11:57417827-57417828	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs115778030	chr11:57417852-57417853	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs537826129	chr11:57417949-57417950	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs183057253	chr11:57417975-57417976	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs148890647	chr11:57417979-57417980	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs539095899	chr11:57418008-57418009	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs554077076	chr11:57418094-57418095	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs572638854	chr11:57418109-57418110	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs188372215	chr11:57418110-57418111	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs192997689	chr11:57418115-57418116	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs184650721	chr11:57418151-57418152	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57412200-57416400	Bivalent Enhancer	Fetal Intestine Large	intestine
2	chr11:57412200-57416800	Enhancers	Lung	lung
3	chr11:57412200-57416800	Enhancers	Spleen	Spleen
4	chr11:57412200-57417000	Bivalent Enhancer	Stomach Mucosa	stomach
5	chr11:57413000-57416400	Enhancers	Right Ventricle	heart
6	chr11:57413000-57416800	Bivalent Enhancer	NH-A	brain
7	chr11:57413200-57416600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:57413200-57417400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:57413400-57416600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr11:57413600-57416400	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr11:57413600-57417800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr11:57413600-57417800	Enhancers	Pancreas	Pancrea
13	chr11:57413600-57418200	Enhancers	HMEC	breast
14	chr11:57413800-57416800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr11:57414200-57416600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr11:57414200-57416600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:57414200-57416600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
18	chr11:57414200-57416800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr11:57414200-57417000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:57414200-57417200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:57414200-57417200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr11:57414200-57417200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:57414400-57416400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
24	chr11:57414400-57416600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:57414600-57416400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
26	chr11:57414800-57416400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:57414800-57416600	Bivalent Enhancer	NHDF-Ad	bronchial
28	chr11:57415200-57416600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:57415200-57416600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:57415200-57418200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:57415400-57416400	Bivalent Enhancer	Esophagus	oesophagus
32	chr11:57415400-57416400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr11:57415400-57416600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr11:57415400-57416600	Bivalent Enhancer	Fetal Kidney	kidney
35	chr11:57415400-57416800	Bivalent Enhancer	Left Ventricle	heart
36	chr11:57415400-57417200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:57415400-57417200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
38	chr11:57415400-57417200	Flanking Active TSS	HSMM	muscle
39	chr11:57415400-57417200	Flanking Active TSS	HSMMtube	muscle
40	chr11:57415400-57418000	Enhancers	Gastric	stomach
41	chr11:57415600-57416400	Flanking Active TSS	Fetal Brain Female	brain
42	chr11:57415600-57416600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr11:57415600-57416600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
44	chr11:57415600-57416600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:57415600-57416600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
46	chr11:57415600-57416600	Flanking Bivalent TSS/Enh	Osteobl	bone
47	chr11:57415600-57416800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:57415600-57417000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
49	chr11:57415600-57417000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:57415600-57417200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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