Variant report

Variant	esv3340630
Chromosome Location	chr11:63766801-63769349
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	ATF2	chr11:63766903-63767235	GM12878	blood:	n/a	n/a
2	ATF2	chr11:63767064-63767328	GM12878	blood:	n/a	n/a
3	BACH1	chr11:63766437-63767186	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:63767436-63767607	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr11:63768826-63769206	A549	lung:	n/a	n/a
6	BCLAF1	chr11:63767874-63768219	GM12878	blood:	n/a	chr11:63767947-63767960 chr11:63767943-63767956 chr11:63767949-63767962 chr11:63767950-63767963 chr11:63768128-63768141
7	BHLHE40	chr11:63768018-63768154	GM12878	blood:	n/a	chr11:63768053-63768069
8	CCNT2	chr11:63767134-63767334	K562	blood:	n/a	n/a
9	CCNT2	chr11:63768203-63768343	K562	blood:	n/a	n/a
10	CCNT2	chr11:63766172-63766838	K562	blood:	n/a	n/a
11	CHD1	chr11:63768022-63768091	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr11:63767806-63768260	IMR90	lung:	n/a	n/a
13	CHD2	chr11:63768043-63768260	H1-hESC	embryonic stem cell:	n/a	n/a
14	CREB1	chr11:63766459-63767457	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr11:63766581-63767524	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr11:63767560-63767710	HUVEC	blood vessel:	n/a	chr11:63767672-63767685
17	CTCF	chr11:63767620-63767770	GM12870	blood:	n/a	chr11:63767672-63767685
18	CTCF	chr11:63767940-63768090	AG10803	skin:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
19	CTCF	chr11:63767320-63767470	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr11:63767965-63768154	Medullo	brain:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
21	CTCF	chr11:63767960-63768110	AG04450	lung:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
22	CTCF	chr11:63767255-63767265	NHEK	skin:	n/a	n/a
23	CTCF	chr11:63767960-63768110	GM12874	blood:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
24	CTCF	chr11:63767180-63767330	GM12874	blood:	n/a	chr11:63767309-63767327 chr11:63767291-63767309 chr11:63767312-63767325
25	CTCF	chr11:63767815-63767887	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr11:63767560-63767710	GM12871	blood:	n/a	chr11:63767672-63767685
27	CTCF	chr11:63767907-63768192	GM10266	blood:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
28	CTCF	chr11:63767980-63768130	HFF-Myc	foreskin:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
29	CTCF	chr11:63767260-63767410	NHDF-neo	bronchial:	n/a	chr11:63767309-63767327 chr11:63767291-63767309 chr11:63767312-63767325
30	CTCF	chr11:63767480-63767630	HCM	heart:	n/a	n/a
31	CTCF	chr11:63767980-63768130	GM12871	blood:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
32	CTCF	chr11:63767720-63767870	GM12867	blood:	n/a	n/a
33	CTCF	chr11:63767662-63767794	Spleen_OC	spleen:	n/a	chr11:63767672-63767685
34	CTCF	chr11:63767980-63768130	GM12865	blood:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
35	CTCF	chr11:63767960-63768110	GM12866	blood:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
36	CTCF	chr11:63767960-63768110	RPTEC	kidney:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
37	CTCF	chr11:63767698-63768226	GM19238	blood:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
38	CTCF	chr11:63767920-63768070	GM12878	blood:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
39	CTCF	chr11:63767980-63768130	WI-38	lung:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
40	CTCF	chr11:63768302-63768386	GM19238	blood:	n/a	n/a
41	CTCF	chr11:63767940-63768090	HRPEpiC	eye:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
42	CTCF	chr11:63767940-63768090	HAc	cerebellar:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
43	CTCF	chr11:63767140-63767290	GM12870	blood:	n/a	n/a
44	CTCF	chr11:63767960-63768110	HCM	heart:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
45	CTCF	chr11:63766560-63766810	GM12865	blood:	n/a	n/a
46	CTCF	chr11:63768212-63768214	GM19240	blood:	n/a	n/a
47	CTCF	chr11:63767680-63767830	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr11:63767960-63768110	HAc	cerebellar:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
49	CTCF	chr11:63767960-63768110	HVMF	connective:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065
50	CTCF	chr11:63767960-63768110	HCFaa	heart:	n/a	chr11:63768050-63768066 chr11:63768052-63768065 chr11:63768049-63768067 chr11:63768052-63768065

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63767561-63767611	AG04449	skin:	fetal
2	chr11:63768040-63768090	HCF	heart:	n/a
3	chr11:63768412-63768462	AG09309	skin:	n/a
4	chr11:63767561-63767611	HMEC	breast:	n/a
5	chr11:63768665-63768715	Hepatocyte	liver:	n/a
6	chr11:63767176-63767226	NH-A	brain:	n/a
7	chr11:63768412-63768462	A549	lung:	n/a
8	chr11:63768412-63768462	SK-N-SH_RA	brain:	n/a
9	chr11:63768794-63768844	AG09309	skin:	n/a
10	chr11:63768040-63768090	T-47D	breast:	n/a
11	chr11:63768665-63768715	ovcar-3	ovarian:	n/a
12	chr11:63766787-63766837	SKMC	muscle:	n/a
13	chr11:63767561-63767611	RPTEC	kidney:	n/a
14	chr11:63768040-63768090	H1-hESC	embryonic stem cell:	embryo
15	chr11:63766787-63766837	HNPCEpiC	eye:	n/a
16	chr11:63768040-63768090	K562	blood:	n/a
17	chr11:63767561-63767611	PrEC	prostate:	n/a
18	chr11:63768040-63768090	GM12878	blood:	n/a
19	chr11:63766787-63766837	AG09319	gingival:	n/a
20	chr11:63767176-63767226	CMK	blood:	n/a
21	chr11:63768665-63768715	AG09319	gingival:	n/a
22	chr11:63766787-63766837	ECC-1	luminal epithelium:	n/a
23	chr11:63768794-63768844	HCT-116	colon:	n/a
24	chr11:63768665-63768715	HL-60	blood:	n/a
25	chr11:63768032-63768082	K562	blood:	n/a
26	chr11:63768665-63768715	HRCEpiC	kidney:	n/a
27	chr11:63766787-63766837	HEK293	kidney:	embryo
28	chr11:63767561-63767611	HEK293	kidney:	embryo
29	chr11:63768665-63768715	MCF10A-Er-Src	breast:	n/a
30	chr11:63767561-63767611	SAEC	small airway:	n/a
31	chr11:63766787-63766837	GM06990	blood:	n/a
32	chr11:63768665-63768715	BE2_C	brain:	n/a
33	chr11:63768032-63768082	HNPCEpiC	eye:	n/a
34	chr11:63768412-63768462	HIPEpiC	eye:	n/a
35	chr11:63768412-63768462	SK-N-MC	brain:	n/a
36	chr11:63768412-63768462	PrEC	prostate:	n/a
37	chr11:63767176-63767226	GM19239	blood:	n/a
38	chr11:63768040-63768090	NH-A	brain:	n/a
39	chr11:63768032-63768082	A549	lung:	n/a
40	chr11:63768665-63768715	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:63767561-63767611	HRPEpiC	eye:	n/a
42	chr11:63768665-63768715	CMK	blood:	n/a
43	chr11:63768794-63768844	A549	lung:	n/a
44	chr11:63768665-63768715	SAEC	small airway:	n/a
45	chr11:63768665-63768715	GM12892	blood:	n/a
46	chr11:63768412-63768462	AG10803	skin:	n/a
47	chr11:63768040-63768090	ECC-1	luminal epithelium:	n/a
48	chr11:63767561-63767611	HepG2	liver:	n/a
49	chr11:63767561-63767611	SK-N-SH	brain:	n/a
50	chr11:63768040-63768090	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63766704..63768642-chr11:63953085..63955113,2	MCF-7	breast:
2	chr11:63767743..63768450-chr16:50186380..50187229,2	NB4	blood:
3	chr11:63766001..63768236-chr11:63932252..63933831,2	MCF-7	breast:
4	chr11:63765613..63767970-chr11:63932144..63934171,3	MCF-7	breast:
5	chr11:63740468..63742451-chr11:63765485..63768295,3	K562	blood:
6	chr11:63765241..63769899-chr11:63951624..63954334,5	MCF-7	breast:
7	chr11:63752288..63756029-chr11:63763681..63768717,11	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COX8A-2	chr11:63768587-63768992	NONHSAT021929
2	lnc-COX8A-2	chr11:63769188-63769239	NONHSAT021929

Variant related genes	Relation type
OTUB1	TF binding region
MACROD1	TF binding region
OTUB1	CpG island
MACROD1	CpG island
ENSG00000121274	chromatin interactions
ENSG00000133315	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000176340	chromatin interactions
ENSG00000167770	chromatin interactions
ENSG00000256100	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75347416	chr11:63766819-63766820	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs578094918	chr11:63766829-63766830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs376399388	chr11:63766832-63766833	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs370776611	chr11:63766843-63766844	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs373560003	chr11:63766848-63766849	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs11606757	chr11:63766907-63766908	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs367696669	chr11:63766911-63766912	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs560890144	chr11:63766912-63766913	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs529554247	chr11:63766984-63766985	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs370442798	chr11:63766999-63767000	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs202142014	chr11:63767002-63767003	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs201232991	chr11:63767079-63767080	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs74751881	chr11:63767096-63767097	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs368583412	chr11:63767100-63767101	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs571362317	chr11:63767127-63767128	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs375200081	chr11:63767134-63767135	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs527433190	chr11:63767158-63767159	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs199876740	chr11:63767166-63767167	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs709594	chr11:63767186-63767187	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs200636276	chr11:63767225-63767226	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs202221368	chr11:63767227-63767228	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs11600062	chr11:63767249-63767250	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555366590	chr11:63767255-63767256	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs202065074	chr11:63767270-63767271	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs537963272	chr11:63767272-63767273	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs557785977	chr11:63767295-63767296	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs373537252	chr11:63767312-63767313	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs372856534	chr11:63767335-63767336	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs112295472	chr11:63767339-63767340	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs540865808	chr11:63767342-63767343	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs554060684	chr11:63767345-63767346	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs574304633	chr11:63767370-63767371	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs543316620	chr11:63767374-63767375	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs35216413	chr11:63767383-63767384	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs562483879	chr11:63767387-63767388	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs146138734	chr11:63767550-63767551	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs545126616	chr11:63767561-63767562	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs320152	chr11:63767629-63767630	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs527386031	chr11:63767652-63767653	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs547601412	chr11:63767655-63767656	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs375344399	chr11:63767665-63767666	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs149397471	chr11:63767725-63767726	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs567323570	chr11:63767742-63767743	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs529958013	chr11:63767782-63767783	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs549628406	chr11:63767785-63767786	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs76298781	chr11:63767810-63767811	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs369900476	chr11:63767835-63767836	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs373018526	chr11:63767854-63767855	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs537897460	chr11:63767859-63767860	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs320153	chr11:63767895-63767896	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:103)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	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
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63754800-63767600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:63755000-63769000	Weak transcription	Fetal Kidney	kidney
3	chr11:63755200-63775200	Weak transcription	Psoas Muscle	Psoas
4	chr11:63756200-63769200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:63759200-63767400	Weak transcription	NHDF-Ad	bronchial
6	chr11:63759200-63774800	Weak transcription	HSMMtube	muscle
7	chr11:63759400-63767400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:63760600-63771800	Strong transcription	Dnd41	blood
9	chr11:63762600-63777800	Weak transcription	Hela-S3	cervix
10	chr11:63764200-63768400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:63764800-63772000	Weak transcription	HepG2	liver
12	chr11:63765000-63769400	Weak transcription	HSMM	muscle
13	chr11:63765000-63774200	Weak transcription	Brain Angular Gyrus	brain
14	chr11:63765200-63767800	Weak transcription	Brain Substantia Nigra	brain
15	chr11:63765400-63767000	Bivalent Enhancer	Fetal Stomach	stomach
16	chr11:63765400-63767200	Weak transcription	Osteobl	bone
17	chr11:63765400-63767600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:63765600-63767000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:63765600-63767200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:63765600-63767600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:63765800-63767000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr11:63765800-63767200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr11:63765800-63767400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:63765800-63767600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:63765800-63767600	Weak transcription	Aorta	Aorta
26	chr11:63765800-63767600	Weak transcription	Pancreas	Pancrea
27	chr11:63766000-63767000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:63766000-63767000	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:63766000-63767000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr11:63766000-63767200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr11:63766000-63767200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:63766000-63767200	Weak transcription	Liver	Liver
33	chr11:63766000-63767200	Weak transcription	Brain Anterior Caudate	brain
34	chr11:63766000-63767400	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr11:63766000-63767400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:63766000-63767400	Weak transcription	GM12878-XiMat	blood
37	chr11:63766000-63767600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr11:63766000-63767800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:63766000-63767800	Bivalent Enhancer	Fetal Brain Male	brain
40	chr11:63766000-63768600	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:63766200-63767000	Genic enhancers	Fetal Muscle Leg	muscle
42	chr11:63766200-63767000	Enhancers	NH-A	brain
43	chr11:63766200-63767200	Weak transcription	Small Intestine	intestine
44	chr11:63766200-63767800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:63766200-63767800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
46	chr11:63766200-63768200	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr11:63766200-63768400	Active TSS	H9 Cell Line	embryonic stem cell
48	chr11:63766200-63768400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:63766200-63768600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr11:63766400-63767000	Active TSS	iPS-18 Cell Line	embryonic stem cell

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