Variant report

Variant	esv3375306
Chromosome Location	chr11:47206601-47209149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:574)
CpG islands
(count:368)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:47208331-47209121	HepG2	liver:	n/a	n/a
2	ATF2	chr11:47206992-47207455	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr11:47206902-47207408	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr11:47208265-47208860	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:47208429-47208827	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr11:47207754-47208225	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr11:47207091-47207438	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr11:47206364-47206751	HepG2	liver:	n/a	n/a
9	BHLHE40	chr11:47207646-47207860	HepG2	liver:	n/a	n/a
10	BHLHE40	chr11:47208216-47208411	K562	blood:	n/a	n/a
11	BRCA1	chr11:47207077-47207379	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr11:47207671-47207725	HepG2	liver:	n/a	n/a
13	CBX3	chr11:47208198-47208653	K562	blood:	n/a	n/a
14	CBX3	chr11:47207184-47207527	K562	blood:	n/a	n/a
15	CCNT2	chr11:47207495-47208240	K562	blood:	n/a	n/a
16	CEBPB	chr11:47206498-47206848	HepG2	liver:	n/a	n/a
17	CEBPB	chr11:47208313-47208547	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr11:47208377-47208707	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr11:47207064-47207400	Hela-S3	cervix:	n/a	n/a
20	CEBPD	chr11:47206286-47207614	HepG2	liver:	n/a	n/a
21	CEBPD	chr11:47208385-47208605	HepG2	liver:	n/a	n/a
22	CEBPD	chr11:47207674-47207896	HepG2	liver:	n/a	n/a
23	CEBPD	chr11:47207912-47208285	HepG2	liver:	n/a	n/a
24	CHD1	chr11:47207253-47207381	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr11:47206833-47207407	H1-hESC	embryonic stem cell:	n/a	chr11:47207010-47207020
26	CHD2	chr11:47208210-47208486	K562	blood:	n/a	n/a
27	CHD2	chr11:47208145-47208255	HepG2	liver:	n/a	n/a
28	CHD2	chr11:47206359-47207815	HepG2	liver:	n/a	chr11:47207010-47207020 chr11:47207603-47207613
29	CHD2	chr11:47206786-47208938	Hela-S3	cervix:	n/a	chr11:47207010-47207020 chr11:47207603-47207613
30	CHD2	chr11:47208364-47208821	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr11:47207923-47208278	A549	lung:	n/a	n/a
32	CREB1	chr11:47206881-47207828	A549	lung:	n/a	n/a
33	CREB1	chr11:47206695-47207489	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr11:47206752-47207624	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTBP2	chr11:47208197-47209142	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr11:47207720-47207870	GM12865	blood:	n/a	chr11:47207830-47207843
37	CTCF	chr11:47209020-47209170	HMF	breast:	n/a	n/a
38	CTCF	chr11:47208075-47208126	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:47208460-47208610	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr11:47208986-47209110	GM19238	blood:	n/a	n/a
41	CTCF	chr11:47208940-47209090	HPF	lung:	n/a	n/a
42	CTCF	chr11:47208920-47209070	NB4	blood:	n/a	chr11:47208928-47208938
43	CTCF	chr11:47207821-47207855	GM12891	blood:	n/a	chr11:47207830-47207843
44	CTCF	chr11:47208960-47209110	GM12864	blood:	n/a	n/a
45	CTCF	chr11:47207980-47208130	GM12878	blood:	n/a	n/a
46	CTCF	chr11:47209069-47209075	IMR90	lung:	n/a	n/a
47	CTCF	chr11:47208940-47209090	NHLF	lung:	n/a	n/a
48	CTCF	chr11:47208000-47208150	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr11:47207760-47207910	GM12865	blood:	n/a	chr11:47207830-47207843
50	CTCF	chr11:47207760-47207910	AG04449	skin:	n/a	chr11:47207830-47207843

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47208959-47209009	AG04450	lung:	fetal
2	chr11:47206835-47206885	Jurkat	blood:	n/a
3	chr11:47208959-47209009	AG04450	lung:	fetal
4	chr11:47206835-47206885	Jurkat	blood:	n/a
5	chr11:47207998-47208048	GM12878	blood:	n/a
6	chr11:47206835-47206885	HRE	kidney:	n/a
7	chr11:47206835-47206885	HCM	heart:	n/a
8	chr11:47207390-47207440	K562	blood:	n/a
9	chr11:47206835-47206885	PANC-1	pancreas:	n/a
10	chr11:47208367-47208417	AG09319	gingival:	n/a
11	chr11:47206835-47206885	HRPEpiC	eye:	n/a
12	chr11:47207826-47207876	AG04450	lung:	fetal
13	chr11:47207998-47208048	HEK293	kidney:	embryo
14	chr11:47208959-47209009	U87	brain:	n/a
15	chr11:47208367-47208417	PANC-1	pancreas:	n/a
16	chr11:47208959-47209009	GM12892	blood:	n/a
17	chr11:47208959-47209009	HCT-116	colon:	n/a
18	chr11:47207390-47207440	MCF10A-Er-Src	breast:	n/a
19	chr11:47206835-47206885	HCT-116	colon:	n/a
20	chr11:47208367-47208417	HAEpiC	amniotic membrane:	n/a
21	chr11:47207390-47207440	Jurkat	blood:	n/a
22	chr11:47208367-47208417	K562	blood:	n/a
23	chr11:47208367-47208417	SKMC	muscle:	n/a
24	chr11:47208959-47209009	Hepatocyte	liver:	n/a
25	chr11:47207998-47208048	HCPEpiC	choroid plexus:	n/a
26	chr11:47207998-47208048	HNPCEpiC	eye:	n/a
27	chr11:47207998-47208048	RPTEC	kidney:	n/a
28	chr11:47208959-47209009	GM06990	blood:	n/a
29	chr11:47207390-47207440	NT2-D1	testis:	n/a
30	chr11:47207998-47208048	HEEpiC	esophagus:	n/a
31	chr11:47207390-47207440	U87	brain:	n/a
32	chr11:47208367-47208417	SK-N-SH_RA	brain:	n/a
33	chr11:47206835-47206885	NT2-D1	testis:	n/a
34	chr11:47206835-47206885	MCF10A-Er-Src	breast:	n/a
35	chr11:47207390-47207440	HAEpiC	amniotic membrane:	n/a
36	chr11:47208959-47209009	HUVEC	blood vessel:	n/a
37	chr11:47207826-47207876	HCT-116	colon:	n/a
38	chr11:47208367-47208417	H1-hESC	embryonic stem cell:	embryo
39	chr11:47207826-47207876	T-47D	breast:	n/a
40	chr11:47208367-47208417	AG04449	skin:	fetal
41	chr11:47208367-47208417	Caco-2	colon:	n/a
42	chr11:47207390-47207440	AoSMC	blood vessel:	n/a
43	chr11:47206835-47206885	Caco-2	colon:	n/a
44	chr11:47208367-47208417	ovcar-3	ovarian:	n/a
45	chr11:47207826-47207876	PFSK-1	brain:	n/a
46	chr11:47208959-47209009	MCF10A-Er-Src	breast:	n/a
47	chr11:47207826-47207876	HPAEpiC	pulmonary alveolar:	n/a
48	chr11:47207826-47207876	SK-N-SH_RA	brain:	n/a
49	chr11:47208367-47208417	HEK293	kidney:	embryo
50	chr11:47207998-47208048	PrEC	prostate:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47205640..47208812-chr11:47225906..47229370,3	MCF-7	breast:
2	chr11:47207450..47208007-chr5:137910613..137911381,2	Hela-S3	cervix:
3	chr11:47207498..47208217-chr9:132514941..132515486,2	Hela-S3	cervix:
4	chr11:47206281..47210029-chr11:47290997..47292963,3	K562	blood:
5	chr11:47208035..47210761-chr11:47215071..47216625,2	K562	blood:
6	chr11:47203683..47208496-chr11:47223862..47228000,5	MCF-7	breast:
7	chr11:47207085..47210178-chr11:47288214..47292056,4	MCF-7	breast:
8	chr11:47205592..47209017-chr11:47278399..47281373,5	MCF-7	breast:
9	chr11:47208178..47210711-chr11:47292129..47294410,2	K562	blood:
10	chr11:47207092..47208885-chr11:47420633..47423542,2	K562	blood:
11	chr11:47204494..47207545-chr11:47289955..47292546,3	K562	blood:
12	chr11:47206949..47207677-chr19:17326146..17326928,2	Hela-S3	cervix:
13	chr11:47205613..47207687-chr11:47429461..47432184,2	K562	blood:
14	chr11:47205689..47216568-chr11:47232414..47239487,27	MCF-7	breast:
15	chr11:47204023..47207155-chr11:47207314..47211225,4	K562	blood:
16	chr11:47204023..47207155-chr11:47207314..47211225,4	K562	blood:
17	chr11:47208173..47208692-chr11:47290493..47291378,2	Hela-S3	cervix:
18	chr11:47203732..47205768-chr11:47206390..47208181,2	MCF-7	breast:
19	chr11:47206745..47208837-chr11:47280102..47282885,2	K562	blood:
20	chr11:47205996..47209414-chr11:47263017..47267262,4	MCF-7	breast:
21	chr11:47208508..47211092-chr11:47245771..47247789,2	MCF-7	breast:
22	chr11:47202119..47205492-chr11:47206060..47209673,5	K562	blood:
23	chr11:47206987..47207900-chr17:56736234..56736875,2	Hela-S3	cervix:
24	chr11:47205835..47208468-chr11:47280225..47282817,2	MCF-7	breast:
25	chr11:47205341..47210329-chr11:47212095..47213798,5	MCF-7	breast:
26	chr11:47205217..47215436-chr11:47233934..47241095,26	MCF-7	breast:
27	chr11:47205837..47210171-chr11:47289770..47293955,7	MCF-7	breast:
28	chr11:47207552..47208216-chr2:158732302..158733110,2	Hela-S3	cervix:
29	chr11:47205635..47209843-chr11:47268961..47271979,7	MCF-7	breast:

No data

Variant related genes	Relation type
PACSIN3	TF binding region
PACSIN3	CpG island
ENSG00000165915	chromatin interactions
ENSG00000134575	chromatin interactions
ENSG00000255197	chromatin interactions
ENSG00000134574	chromatin interactions
ENSG00000256746	chromatin interactions
ENSG00000264583	chromatin interactions
ENSG00000110514	chromatin interactions
ENSG00000115170	chromatin interactions
ENSG00000025434	chromatin interactions
ENSG00000053501	chromatin interactions
ENSG00000266540	chromatin interactions
ENSG00000165912	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000113013	chromatin interactions
ENSG00000148344	chromatin interactions
ENSG00000243802	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544077307	chr11:47206657-47206658	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs546764223	chr11:47206667-47206668	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs570260273	chr11:47206720-47206721	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs201827041	chr11:47206722-47206723	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs61433652	chr11:47206724-47206725	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs115681611	chr11:47206746-47206747	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs556011323	chr11:47206751-47206752	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs529952117	chr11:47206769-47206770	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs375396082	chr11:47206781-47206782	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs370196989	chr11:47206809-47206810	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs577626938	chr11:47206907-47206908	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs543499365	chr11:47206968-47206969	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs140302917	chr11:47207008-47207009	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs368594500	chr11:47207009-47207010	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs180812406	chr11:47207010-47207011	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs372552038	chr11:47207065-47207066	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs183175908	chr11:47207118-47207119	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs541655693	chr11:47207223-47207224	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs561933528	chr11:47207248-47207249	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs527561697	chr11:47207249-47207250	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs541320708	chr11:47207264-47207265	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs563885492	chr11:47207275-47207276	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs533006447	chr11:47207292-47207293	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs112364886	chr11:47207324-47207325	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs4463814	chr11:47207362-47207363	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376694511	chr11:47207391-47207392	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs569802748	chr11:47207400-47207401	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs187749790	chr11:47207581-47207582	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs549285905	chr11:47207601-47207602	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs552147842	chr11:47207636-47207637	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs566269537	chr11:47207675-47207676	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs4635041	chr11:47207702-47207703	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs552088673	chr11:47207720-47207721	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs571302370	chr11:47207917-47207918	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs537073272	chr11:47207932-47207933	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs557017643	chr11:47208012-47208013	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs573761550	chr11:47208071-47208072	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs536772714	chr11:47208095-47208096	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs555223478	chr11:47208184-47208185	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs376921041	chr11:47208193-47208194	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs537905383	chr11:47208251-47208252	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs370242312	chr11:47208260-47208261	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs564401506	chr11:47208286-47208287	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs577697291	chr11:47208306-47208307	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs543410016	chr11:47208354-47208355	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs563296672	chr11:47208414-47208415	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs371793475	chr11:47208424-47208425	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs528951567	chr11:47208444-47208445	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs549074101	chr11:47208458-47208459	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs901748	chr11:47208548-47208549	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	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
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47197000-47207600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr11:47199600-47206800	Weak transcription	Fetal Kidney	kidney
3	chr11:47199600-47207000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:47200000-47207200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:47200200-47206800	Weak transcription	Dnd41	blood
6	chr11:47200400-47207200	Weak transcription	K562	blood
7	chr11:47205600-47206800	Flanking Active TSS	Rectal Smooth Muscle	rectum
8	chr11:47205600-47207000	Flanking Active TSS	Fetal Intestine Large	intestine
9	chr11:47205600-47207400	Flanking Active TSS	Liver	Liver
10	chr11:47205600-47208200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:47205600-47208200	Active TSS	Left Ventricle	heart
12	chr11:47205800-47206800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr11:47205800-47208200	Active TSS	Right Ventricle	heart
14	chr11:47206000-47207000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:47206000-47207000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:47206000-47207000	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr11:47206000-47207000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:47206000-47207400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr11:47206000-47207600	Flanking Active TSS	HMEC	breast
20	chr11:47206000-47208200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:47206000-47209200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:47206000-47210000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr11:47206200-47206800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr11:47206200-47206800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr11:47206200-47207000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:47206200-47207000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr11:47206200-47207000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:47206200-47207000	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr11:47206200-47207000	Flanking Active TSS	Hela-S3	cervix
30	chr11:47206200-47207000	Flanking Active TSS	NH-A	brain
31	chr11:47206200-47207400	Flanking Active TSS	NHLF	lung
32	chr11:47206200-47207600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:47206200-47207600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr11:47206200-47207600	Flanking Active TSS	Pancreas	Pancrea
35	chr11:47206200-47207800	Bivalent/Poised TSS	HepG2	liver
36	chr11:47206200-47208400	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr11:47206200-47209000	Active TSS	Brain Substantia Nigra	brain
38	chr11:47206200-47209000	Active TSS	Gastric	stomach
39	chr11:47206200-47209400	Active TSS	Psoas Muscle	Psoas
40	chr11:47206400-47206800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr11:47206400-47206800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:47206400-47206800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:47206400-47206800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr11:47206400-47206800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:47206400-47206800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:47206400-47206800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:47206400-47206800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:47206400-47206800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chr11:47206400-47206800	Flanking Active TSS	Fetal Heart	heart
50	chr11:47206400-47206800	Active TSS	Right Atrium	heart

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