Variant report

Variant	nsv356
Chromosome Location	chr11:63868847-63913129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:241)
CpG islands
(count:2627)
Chromatin interactive
region (count:68)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:241 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:63895081-63895281	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr11:63899225-63899301	K562	blood:	n/a	n/a
3	BHLHE40	chr11:63876320-63876565	K562	blood:	n/a	n/a
4	BHLHE40	chr11:63899089-63899511	HepG2	liver:	n/a	n/a
5	BHLHE40	chr11:63891687-63891930	K562	blood:	n/a	n/a
6	CEBPB	chr11:63888029-63888235	IMR90	lung:	n/a	n/a
7	CEBPB	chr11:63887223-63887436	HepG2	liver:	n/a	chr11:63887315-63887326
8	CEBPB	chr11:63887213-63887506	A549	lung:	n/a	chr11:63887315-63887326
9	CEBPB	chr11:63887271-63887372	K562	blood:	n/a	chr11:63887315-63887326
10	CEBPB	chr11:63887177-63887462	IMR90	lung:	n/a	chr11:63887315-63887326
11	CEBPB	chr11:63908855-63909291	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr11:63881893-63882175	GM19239	blood:	n/a	n/a
13	CTCF	chr11:63913080-63913230	GM06990	blood:	n/a	n/a
14	CTCF	chr11:63909220-63909370	RPTEC	kidney:	n/a	n/a
15	CTCF	chr11:63909208-63909242	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr11:63885320-63885470	GM12865	blood:	n/a	n/a
17	CTCF	chr11:63871840-63871990	HBMEC	blood vessel:	n/a	chr11:63871871-63871881 chr11:63871962-63871975 chr11:63871863-63871884 chr11:63871874-63871883 chr11:63871869-63871885 chr11:63871934-63871947 chr11:63871868-63871886
18	CTCF	chr11:63891740-63891890	SAEC	small airway:	n/a	chr11:63891854-63891867 chr11:63891852-63891868
19	CTCF	chr11:63891680-63891830	AG04449	skin:	n/a	n/a
20	CTCF	chr11:63891725-63891922	MCF-7	breast:	n/a	chr11:63891854-63891867 chr11:63891852-63891868
21	CTCF	chr11:63891731-63891920	MCF-7	breast:	n/a	chr11:63891854-63891867 chr11:63891852-63891868
22	CTCF	chr11:63898314-63898336	Lung_OC	lung:	n/a	n/a
23	CTCF	chr11:63891739-63891932	MCF-7	breast:	n/a	chr11:63891854-63891867 chr11:63891852-63891868
24	CTCF	chr11:63909040-63909190	HRE	kidney:	n/a	n/a
25	CTCF	chr11:63895080-63895230	BJ	skin:	n/a	n/a
26	CTCF	chr11:63881720-63881800	GM19239	blood:	n/a	n/a
27	CTCF	chr11:63881438-63881519	GM19239	blood:	n/a	n/a
28	CTCF	chr11:63891758-63891937	NHEK	skin:	n/a	chr11:63891854-63891867 chr11:63891852-63891868
29	CTCF	chr11:63913040-63913190	GM12872	blood:	n/a	n/a
30	CTCF	chr11:63891740-63891890	HBMEC	blood vessel:	n/a	chr11:63891854-63891867 chr11:63891852-63891868
31	CTCF	chr11:63891757-63891911	MCF-7	breast:	n/a	chr11:63891854-63891867 chr11:63891852-63891868
32	CTCF	chr11:63891807-63891853	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr11:63895040-63895190	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr11:63912980-63913130	AG10803	skin:	n/a	n/a
35	CTCF	chr11:63895000-63895150	Caco-2	colon:	n/a	n/a
36	CTCF	chr11:63891841-63891908	K562	blood:	n/a	chr11:63891854-63891867 chr11:63891852-63891868
37	CTCF	chr11:63891760-63891910	BE2_C	brain:	n/a	chr11:63891854-63891867 chr11:63891852-63891868
38	CTCF	chr11:63891724-63891917	MCF-7	breast:	n/a	chr11:63891854-63891867 chr11:63891852-63891868
39	CTCF	chr11:63891700-63891850	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr11:63869600-63869750	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr11:63909240-63909390	HRE	kidney:	n/a	n/a
42	CTCF	chr11:63895006-63895175	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr11:63891820-63891970	MCF-7	breast:	n/a	chr11:63891854-63891867 chr11:63891852-63891868
44	CTCF	chr11:63888414-63888434	NHEK	skin:	n/a	n/a
45	CTCF	chr11:63909120-63909270	HRE	kidney:	n/a	n/a
46	CTCF	chr11:63881013-63881242	GM19239	blood:	n/a	n/a
47	CTCF	chr11:63885440-63885590	HepG2	liver:	n/a	n/a
48	CTCF	chr11:63885224-63885526	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr11:63888397-63888411	NHEK	skin:	n/a	n/a
50	CTCF	chr11:63891660-63891810	SK-N-SH_RA	brain:	n/a	n/a

(count:2627 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63885740-63885790	PrEC	prostate:	n/a
2	chr11:63887540-63887590	SKMC	muscle:	n/a
3	chr11:63871343-63871393	ovcar-3	ovarian:	n/a
4	chr11:63870619-63870669	GM06990	blood:	n/a
5	chr11:63885740-63885790	PrEC	prostate:	n/a
6	chr11:63887540-63887590	SKMC	muscle:	n/a
7	chr11:63871343-63871393	ovcar-3	ovarian:	n/a
8	chr11:63870619-63870669	GM06990	blood:	n/a
9	chr11:63886204-63886254	SK-N-SH_RA	brain:	n/a
10	chr11:63871343-63871393	NT2-D1	testis:	n/a
11	chr11:63871243-63871293	HCM	heart:	n/a
12	chr11:63883947-63883997	HAEpiC	amniotic membrane:	n/a
13	chr11:63912583-63912633	HIPEpiC	eye:	n/a
14	chr11:63906050-63906100	AG09319	gingival:	n/a
15	chr11:63883947-63883997	CMK	blood:	n/a
16	chr11:63887426-63887476	T-47D	breast:	n/a
17	chr11:63883584-63883634	GM12892	blood:	n/a
18	chr11:63912583-63912633	LNCaP	prostate:	n/a
19	chr11:63912367-63912417	PANC-1	pancreas:	n/a
20	chr11:63871000-63871050	MCF10A-Er-Src	breast:	n/a
21	chr11:63884779-63884829	HL-60	blood:	n/a
22	chr11:63894802-63894852	NT2-D1	testis:	n/a
23	chr11:63884779-63884829	HRPEpiC	eye:	n/a
24	chr11:63883266-63883316	HEK293	kidney:	embryo
25	chr11:63886459-63886509	GM12878	blood:	n/a
26	chr11:63887540-63887590	MCF-7	breast:	n/a
27	chr11:63912769-63912819	PANC-1	pancreas:	n/a
28	chr11:63871231-63871281	HRCEpiC	kidney:	n/a
29	chr11:63887540-63887590	LNCaP	prostate:	n/a
30	chr11:63899087-63899137	ECC-1	luminal epithelium:	n/a
31	chr11:63887634-63887684	Caco-2	colon:	n/a
32	chr11:63871570-63871620	Jurkat	blood:	n/a
33	chr11:63912698-63912748	MCF10A-Er-Src	breast:	n/a
34	chr11:63894504-63894554	SK-N-MC	brain:	n/a
35	chr11:63870619-63870669	K562	blood:	n/a
36	chr11:63880417-63880467	CMK	blood:	n/a
37	chr11:63889184-63889234	SK-N-SH	brain:	n/a
38	chr11:63906050-63906100	Caco-2	colon:	n/a
39	chr11:63894504-63894554	SAEC	small airway:	n/a
40	chr11:63886229-63886279	GM19239	blood:	n/a
41	chr11:63906104-63906154	GM19239	blood:	n/a
42	chr11:63871228-63871278	HCPEpiC	choroid plexus:	n/a
43	chr11:63912722-63912772	A549	lung:	n/a
44	chr11:63899087-63899137	GM12891	blood:	n/a
45	chr11:63894400-63894450	HRCEpiC	kidney:	n/a
46	chr11:63884524-63884574	AG10803	skin:	n/a
47	chr11:63885665-63885715	MCF10A-Er-Src	breast:	n/a
48	chr11:63906084-63906134	NHDF-neo	bronchial:	n/a
49	chr11:63871343-63871393	NH-A	brain:	n/a
50	chr11:63912367-63912417	PFSK-1	brain:	n/a

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:63894281..63896174-chr11:63903272..63905656,2	MCF-7	breast:
2	chr11:63889039..63891397-chr11:63901095..63904442,4	K562	blood:
3	chr11:63604849..63606605-chr11:63911575..63914169,2	K562	blood:
4	chr11:63907528..63910274-chr11:63911901..63915955,5	K562	blood:
5	chr11:63888452..63890195-chr11:63909642..63911388,2	K562	blood:
6	chr11:63871394..63875273-chr11:63876686..63880197,5	K562	blood:
7	chr11:63871768..63873889-chr11:63882360..63884841,2	K562	blood:
8	chr11:63891937..63894081-chr11:63896157..63898107,2	K562	blood:
9	chr11:63890559..63892609-chr11:63919127..63921688,2	MCF-7	breast:
10	chr11:63888646..63891541-chr11:63955037..63956555,2	MCF-7	breast:
11	chr11:63867468..63869509-chr11:63890366..63892303,2	MCF-7	breast:
12	chr11:63894757..63897753-chr11:63898307..63901137,2	K562	blood:
13	chr11:63859816..63862484-chr11:63904603..63906988,2	K562	blood:
14	chr11:63889514..63891189-chr11:63902190..63904442,3	K562	blood:
15	chr11:63788062..63790678-chr11:63896459..63899438,2	K562	blood:
16	chr11:63903242..63905220-chr11:63906631..63909322,2	K562	blood:
17	chr11:63823522..63825831-chr11:63891458..63893475,2	MCF-7	breast:
18	chr11:63751447..63755451-chr11:63882751..63885607,3	MCF-7	breast:
19	chr11:63894757..63897753-chr11:63898307..63901137,2	K562	blood:
20	chr11:63894649..63896789-chr11:63898167..63901854,5	MCF-7	breast:
21	chr11:63845669..63847222-chr11:63878087..63880770,2	MCF-7	breast:
22	chr11:63897701..63899645-chr11:63901287..63903042,2	K562	blood:
23	chr11:63898040..63900955-chr11:63917513..63921535,3	K562	blood:
24	chr11:63896044..63898939-chr11:63908774..63911161,2	MCF-7	breast:
25	chr11:63903242..63905220-chr11:63906631..63909322,2	K562	blood:
26	chr11:63908789..63911720-chr11:63932470..63934235,2	MCF-7	breast:
27	chr11:63743504..63745731-chr11:63895376..63898316,2	K562	blood:
28	chr11:63906755..63909220-chr11:63909551..63912410,2	MCF-7	breast:
29	chr11:63894649..63896789-chr11:63898167..63901854,5	MCF-7	breast:
30	chr11:63899428..63902376-chr11:63903166..63906655,5	MCF-7	breast:
31	chr11:63908787..63911048-chr11:63919797..63921636,2	MCF-7	breast:
32	chr11:63906755..63909220-chr11:63909551..63912410,2	MCF-7	breast:
33	chr11:63903545..63905452-chr11:63911377..63913056,2	MCF-7	breast:
34	chr11:63886159..63888775-chr11:63931578..63933986,2	MCF-7	breast:
35	chr11:63888452..63890195-chr11:63909642..63911388,2	K562	blood:
36	chr11:63871394..63875273-chr11:63876686..63880197,5	K562	blood:
37	chr11:63857132..63859776-chr11:63867772..63869724,2	K562	blood:
38	chr11:63891937..63894081-chr11:63896157..63898107,2	K562	blood:
39	chr11:63888929..63891222-chr11:63896109..63898759,2	MCF-7	breast:
40	chr11:63907528..63910274-chr11:63911901..63915955,5	K562	blood:
41	chr11:63896273..63898593-chr11:63900938..63902757,2	K562	blood:
42	chr11:63891354..63894679-chr11:63899764..63902177,3	MCF-7	breast:
43	chr11:63854089..63858016-chr11:63890229..63892946,3	MCF-7	breast:
44	chr11:63889039..63891397-chr11:63901095..63904442,4	K562	blood:
45	chr11:63888929..63891222-chr11:63896109..63898759,2	MCF-7	breast:
46	chr11:63753024..63754792-chr11:63877505..63880384,2	MCF-7	breast:
47	chr11:63882915..63884582-chr11:63898261..63900223,2	MCF-7	breast:
48	chr11:63910019..63912556-chr11:63923747..63925482,2	MCF-7	breast:
49	chr11:63896273..63898593-chr11:63900938..63902757,2	K562	blood:
50	chr11:63867468..63869509-chr11:63890366..63892303,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRPT1-2	chr11:63885744-63886249	ENSG00000256341.1
2	lnc-TRPT1-2	chr11:63886614-63886682	ENSG00000256341.1
3	lnc-FLRT1-2	chr11:63870666-63870985	ENSG00000256824.1

No data

Variant related genes	Relation type
ENSG00000256341	TF binding region
MACROD1	TF binding region
FLRT1	TF binding region
ENSG00000256341	CpG island
MACROD1	CpG island
FLRT1	CpG island
ENSG00000126500	chromatin interactions
ENSG00000133315	chromatin interactions
ENSG00000256341	chromatin interactions
ENSG00000167770	chromatin interactions
ENSG00000072518	chromatin interactions

Extended variants
information (count: 1817 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1817 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149960810	chr11:63868910-63868911	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs565009290	chr11:63868914-63868915	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs533313709	chr11:63868917-63868918	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs191781062	chr11:63868924-63868925	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs546580208	chr11:63868992-63868993	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs563325681	chr11:63868998-63868999	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529213706	chr11:63869015-63869016	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs372486255	chr11:63869034-63869035	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs377114431	chr11:63869050-63869051	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs2845885	chr11:63869062-63869063	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2701540	chr11:63869107-63869108	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs558478273	chr11:63869156-63869157	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs571840241	chr11:63869161-63869162	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs184127249	chr11:63869176-63869177	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs187914851	chr11:63869205-63869206	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs528385162	chr11:63869213-63869214	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs56273017	chr11:63869271-63869272	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs145060449	chr11:63869325-63869326	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs640999	chr11:63869425-63869426	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs641378	chr11:63869493-63869494	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs537129718	chr11:63869524-63869525	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs556814770	chr11:63869526-63869527	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs641430	chr11:63869531-63869532	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs375514421	chr11:63869542-63869543	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs641811	chr11:63869596-63869597	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553009851	chr11:63869701-63869702	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs192496512	chr11:63869702-63869703	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs373333670	chr11:63869706-63869707	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs185678444	chr11:63869707-63869708	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs529359791	chr11:63869754-63869755	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs549097697	chr11:63869761-63869762	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs572740326	chr11:63869793-63869794	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs531974554	chr11:63869815-63869816	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs552522445	chr11:63869816-63869817	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs666497	chr11:63869821-63869822	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs571915031	chr11:63869822-63869823	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs59852408	chr11:63869836-63869837	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs534467265	chr11:63869842-63869843	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs669913	chr11:63869879-63869880	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs4264156	chr11:63869928-63869929	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs567306308	chr11:63869958-63869959	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs544009435	chr11:63869960-63869961	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs536234026	chr11:63869971-63869972	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs189577016	chr11:63869975-63869976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs556269834	chr11:63870014-63870015	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs57239132	chr11:63870018-63870019	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs77558699	chr11:63870082-63870083	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs570792355	chr11:63870217-63870218	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs572027338	chr11:63870228-63870229	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs184601454	chr11:63870374-63870375	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	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
Non-syndromic sensorineural hearing loss	18451855	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1029 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63853000-63869000	Enhancers	Brain Hippocampus Middle	brain
2	chr11:63853000-63871200	Enhancers	Brain Cingulate Gyrus	brain
3	chr11:63853000-63871600	Enhancers	Brain Substantia Nigra	brain
4	chr11:63853400-63871200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr11:63853600-63870800	Enhancers	Brain Angular Gyrus	brain
6	chr11:63856400-63871400	Enhancers	Brain Anterior Caudate	brain
7	chr11:63863600-63873200	Weak transcription	Colonic Mucosa	Colon
8	chr11:63863800-63875000	Weak transcription	Spleen	Spleen
9	chr11:63863800-63876600	Weak transcription	Fetal Intestine Small	intestine
10	chr11:63864000-63869000	Weak transcription	Fetal Lung	lung
11	chr11:63864800-63870000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:63865600-63872200	Weak transcription	Right Ventricle	heart
13	chr11:63866000-63878800	Weak transcription	Esophagus	oesophagus
14	chr11:63866200-63869200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:63866400-63887800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:63866800-63869800	Enhancers	Fetal Stomach	stomach
17	chr11:63867000-63882800	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:63867200-63872600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:63867400-63878400	Weak transcription	HepG2	liver
20	chr11:63867600-63872000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:63867800-63870200	Enhancers	Fetal Brain Male	brain
22	chr11:63867800-63871200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:63868000-63869200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:63868000-63869200	Enhancers	Fetal Muscle Leg	muscle
25	chr11:63868000-63869400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:63868000-63870200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr11:63868000-63870200	Enhancers	Psoas Muscle	Psoas
28	chr11:63868000-63871400	Enhancers	Brain Germinal Matrix	brain
29	chr11:63868000-63874400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr11:63868200-63870000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:63868200-63870000	Enhancers	Fetal Brain Female	brain
32	chr11:63868400-63869200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:63868400-63869400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr11:63868400-63870400	Enhancers	Ovary	ovary
35	chr11:63868400-63871000	Enhancers	Adipose Nuclei	Adipose
36	chr11:63868400-63873400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:63868600-63869200	Enhancers	NHDF-Ad	bronchial
38	chr11:63868600-63869400	Enhancers	Fetal Kidney	kidney
39	chr11:63868600-63869400	Bivalent Enhancer	NH-A	brain
40	chr11:63868600-63869800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:63868600-63869800	Enhancers	Rectal Smooth Muscle	rectum
42	chr11:63868600-63870000	Enhancers	HSMM	muscle
43	chr11:63868600-63871400	Enhancers	Fetal Thymus	thymus
44	chr11:63868800-63869000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:63868800-63869200	Active TSS	Stomach Smooth Muscle	stomach
46	chr11:63868800-63869400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr11:63868800-63869600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
48	chr11:63869000-63869200	Enhancers	Fetal Lung	lung
49	chr11:63869000-63869400	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr11:63869000-63870000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

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