Variant report

Variant	esv3326620
Chromosome Location	chr11:45201401-45203949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:358)
CpG islands
(count:245)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:45203037-45203052	K562	blood:	n/a	n/a
2	BHLHE40	chr11:45202346-45202654	K562	blood:	n/a	n/a
3	BHLHE40	chr11:45202348-45202626	HepG2	liver:	n/a	n/a
4	BHLHE40	chr11:45201795-45201987	HepG2	liver:	n/a	n/a
5	BRCA1	chr11:45201395-45201991	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr11:45202520-45202793	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chr11:45202342-45202846	K562	blood:	n/a	n/a
8	CEBPB	chr11:45201782-45202139	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr11:45202372-45202792	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr11:45201551-45203001	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr11:45202914-45202925	HepG2	liver:	n/a	n/a
12	CREB1	chr11:45201694-45202247	A549	lung:	n/a	n/a
13	CTBP2	chr11:45202363-45202939	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:45201760-45201910	BE2_C	brain:	n/a	n/a
15	CTCF	chr11:45201680-45201830	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr11:45201800-45201950	GM12878	blood:	n/a	n/a
17	CTCF	chr11:45201740-45201890	Caco-2	colon:	n/a	n/a
18	CTCF	chr11:45201800-45201950	A549	lung:	n/a	n/a
19	CTCF	chr11:45201720-45201870	AG10803	skin:	n/a	n/a
20	CTCF	chr11:45200973-45202208	A549	lung:	n/a	n/a
21	CTCF	chr11:45201720-45201870	NHEK	skin:	n/a	n/a
22	CTCF	chr11:45201773-45201868	GM10248	blood:	n/a	n/a
23	CTCF	chr11:45202720-45202870	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr11:45202640-45202790	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr11:45201740-45201890	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr11:45201740-45201890	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr11:45201760-45201910	HEK293	kidney:	n/a	n/a
28	CTCF	chr11:45201660-45201810	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr11:45201800-45201950	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr11:45201760-45201910	AG09319	gingival:	n/a	n/a
31	CTCF	chr11:45201680-45201830	GM12878	blood:	n/a	n/a
32	CTCF	chr11:45202720-45202870	AG09319	gingival:	n/a	n/a
33	CTCF	chr11:45201653-45201933	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr11:45201682-45201928	A549	lung:	n/a	n/a
35	CTCF	chr11:45202700-45202850	AG04449	skin:	n/a	n/a
36	CTCF	chr11:45201777-45201865	GM19240	blood:	n/a	n/a
37	CTCF	chr11:45202680-45202830	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr11:45202753-45202843	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:45201780-45201930	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr11:45201700-45201850	AG10803	skin:	n/a	n/a
41	CTCF	chr11:45201760-45201910	HCM	heart:	n/a	n/a
42	CTCF	chr11:45202640-45202790	HEK293	kidney:	n/a	n/a
43	CTCF	chr11:45201760-45201910	AG04449	skin:	n/a	n/a
44	CTCF	chr11:45201740-45201890	HVMF	connective:	n/a	n/a
45	CTCF	chr11:45201580-45201730	RPTEC	kidney:	n/a	n/a
46	CTCF	chr11:45201688-45201956	GM12878	blood:	n/a	n/a
47	CTCF	chr11:45201680-45201830	HCFaa	heart:	n/a	n/a
48	CTCF	chr11:45201771-45201901	GM12878	blood:	n/a	n/a
49	CTCF	chr11:45201681-45201940	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr11:45201700-45201850	HEEpiC	esophagus:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:45201855-45201905	HIPEpiC	eye:	n/a
2	chr11:45201855-45201905	HIPEpiC	eye:	n/a
3	chr11:45201741-45201791	MCF-7	breast:	n/a
4	chr11:45201855-45201905	PrEC	prostate:	n/a
5	chr11:45202135-45202185	HCF	heart:	n/a
6	chr11:45202135-45202185	ECC-1	luminal epithelium:	n/a
7	chr11:45202135-45202185	ProgFib	skin:	n/a
8	chr11:45201855-45201905	HUVEC	blood vessel:	n/a
9	chr11:45201741-45201791	NHBE	bronchial:	n/a
10	chr11:45202557-45202607	HCM	heart:	n/a
11	chr11:45202135-45202185	U87	brain:	n/a
12	chr11:45201855-45201905	HCM	heart:	n/a
13	chr11:45202557-45202607	GM12878	blood:	n/a
14	chr11:45202557-45202607	HRE	kidney:	n/a
15	chr11:45202557-45202607	GM19239	blood:	n/a
16	chr11:45201741-45201791	Hepatocyte	liver:	n/a
17	chr11:45202557-45202607	HRCEpiC	kidney:	n/a
18	chr11:45201741-45201791	SAEC	small airway:	n/a
19	chr11:45201855-45201905	AG04449	skin:	fetal
20	chr11:45201741-45201791	NT2-D1	testis:	n/a
21	chr11:45201741-45201791	Caco-2	colon:	n/a
22	chr11:45201741-45201791	MCF10A-Er-Src	breast:	n/a
23	chr11:45202135-45202185	PrEC	prostate:	n/a
24	chr11:45202135-45202185	HepG2	liver:	n/a
25	chr11:45201855-45201905	HRE	kidney:	n/a
26	chr11:45202557-45202607	NHBE	bronchial:	n/a
27	chr11:45201855-45201905	NB4	blood:	n/a
28	chr11:45201741-45201791	RPTEC	kidney:	n/a
29	chr11:45202135-45202185	HCT-116	colon:	n/a
30	chr11:45201855-45201905	MCF10A-Er-Src	breast:	n/a
31	chr11:45202557-45202607	SK-N-SH	brain:	n/a
32	chr11:45202135-45202185	H1-hESC	embryonic stem cell:	embryo
33	chr11:45201855-45201905	NT2-D1	testis:	n/a
34	chr11:45202135-45202185	CMK	blood:	n/a
35	chr11:45202135-45202185	NT2-D1	testis:	n/a
36	chr11:45201855-45201905	MCF-7	breast:	n/a
37	chr11:45201855-45201905	SK-N-SH_RA	brain:	n/a
38	chr11:45201741-45201791	HPAEpiC	pulmonary alveolar:	n/a
39	chr11:45201855-45201905	HRPEpiC	eye:	n/a
40	chr11:45202135-45202185	PANC-1	pancreas:	n/a
41	chr11:45202135-45202185	BJ	skin:	n/a
42	chr11:45202135-45202185	K562	blood:	n/a
43	chr11:45201855-45201905	HEK293	kidney:	embryo
44	chr11:45202557-45202607	PFSK-1	brain:	n/a
45	chr11:45201741-45201791	HepG2	liver:	n/a
46	chr11:45202135-45202185	HCM	heart:	n/a
47	chr11:45202135-45202185	AG04449	skin:	fetal
48	chr11:45202557-45202607	HPAEpiC	pulmonary alveolar:	n/a
49	chr11:45201741-45201791	HCT-116	colon:	n/a
50	chr11:45202135-45202185	HMEC	breast:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45198038..45200722-chr11:45201190..45202692,2	MCF-7	breast:
2	chr11:45201511..45203799-chr11:45256779..45259525,2	MCF-7	breast:
3	chr11:45201395..45201910-chr11:45314825..45315380,2	MCF-7	breast:
4	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
5	chr11:45194753..45196374-chr11:45201257..45203053,2	K562	blood:
6	chr1:20834026..20834793-chr11:45201916..45202662,2	Hela-S3	cervix:
7	chr11:45184515..45187339-chr11:45200209..45203185,3	MCF-7	breast:
8	chr11:45201626..45202272-chr12:6978913..6979896,2	Hela-S3	cervix:
9	chr11:45167893..45171206-chr11:45200303..45204446,5	MCF-7	breast:
10	chr1:45805524..45806078-chr11:45202033..45202587,2	Hela-S3	cervix:
11	chr11:45200855..45203126-chr11:45215617..45218451,2	MCF-7	breast:
12	chr11:45184562..45186695-chr11:45200479..45203077,3	MCF-7	breast:
13	chr11:45168123..45168914-chr11:45201466..45202278,2	MCF-7	breast:
14	chr11:45175116..45179672-chr11:45200428..45203177,5	MCF-7	breast:
15	chr11:45201399..45202014-chr19:13949551..13950439,2	Hela-S3	cervix:
16	chr1:45186974..45187599-chr11:45201244..45201899,2	Hela-S3	cervix:
17	chr11:45202128..45202855-chr20:42839088..42839664,2	Hela-S3	cervix:
18	chr11:45200307..45202663-chr11:45284381..45286142,2	MCF-7	breast:
19	chr11:45167440..45169930-chr11:45202656..45204248,2	K562	blood:
20	chr11:45197003..45199885-chr11:45200062..45203295,4	MCF-7	breast:
21	chr11:45192972..45194599-chr11:45201172..45203381,2	MCF-7	breast:
22	chr11:45201839..45203061-chr11:62608513..62609201,3	Hela-S3	cervix:
23	chr11:45201835..45202455-chr17:27620880..27621538,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
PRDM11	TF binding region
PRDM11	CpG island
ENSG00000090432	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000019485	chromatin interactions
ENSG00000132781	chromatin interactions
ENSG00000132823	chromatin interactions
ENSG00000254664	chromatin interactions
ENSG00000108256	chromatin interactions
ENSG00000223891	chromatin interactions
ENSG00000111669	chromatin interactions
ENSG00000132773	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527325668	chr11:45201418-45201419	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs548663716	chr11:45201420-45201421	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs7945018	chr11:45201421-45201422	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs142399962	chr11:45201449-45201450	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs80092223	chr11:45201481-45201482	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs570809348	chr11:45201571-45201572	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs540012148	chr11:45201586-45201587	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs550413883	chr11:45201614-45201615	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs539787074	chr11:45201741-45201742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs375054983	chr11:45201761-45201762	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs75809477	chr11:45201785-45201786	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs537516336	chr11:45201807-45201808	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs554666821	chr11:45201814-45201815	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs574484041	chr11:45201820-45201821	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs111425265	chr11:45201870-45201871	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs12787501	chr11:45201917-45201918	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs12787522	chr11:45201946-45201947	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs540405921	chr11:45201950-45201951	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs560435390	chr11:45201979-45201980	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs192550572	chr11:45202095-45202096	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs577199654	chr11:45202172-45202173	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs546129478	chr11:45202228-45202229	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs185075227	chr11:45202316-45202317	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs112209278	chr11:45202399-45202400	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs12792817	chr11:45202450-45202451	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs112370126	chr11:45202456-45202457	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs4445624	chr11:45202518-45202519	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs548357098	chr11:45202539-45202540	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs562194487	chr11:45202585-45202586	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs376839645	chr11:45202602-45202603	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs547577845	chr11:45202640-45202641	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs573399287	chr11:45202659-45202660	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs148208754	chr11:45202678-45202679	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs112036522	chr11:45202687-45202688	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs35222671	chr11:45202736-45202737	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs550472604	chr11:45202763-45202764	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs568725799	chr11:45202777-45202778	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs371188820	chr11:45202826-45202827	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs540712621	chr11:45202843-45202844	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs565342788	chr11:45202877-45202878	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs532572168	chr11:45202894-45202895	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs533913903	chr11:45202906-45202907	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs376270443	chr11:45202913-45202914	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs193188150	chr11:45202972-45202973	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs577111773	chr11:45203014-45203015	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs545749291	chr11:45203036-45203037	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs562815625	chr11:45203107-45203108	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs572309535	chr11:45203142-45203143	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs576291417	chr11:45203198-45203199	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs534699360	chr11:45203200-45203201	Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45200400-45201600	Enhancers	Left Ventricle	heart
2	chr11:45200400-45201600	Enhancers	Right Atrium	heart
3	chr11:45200400-45202000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:45200600-45201600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:45200600-45201800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr11:45200800-45201600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr11:45200800-45201600	Enhancers	Fetal Stomach	stomach
8	chr11:45200800-45201600	Enhancers	Pancreas	Pancrea
9	chr11:45200800-45201600	Enhancers	Small Intestine	intestine
10	chr11:45200800-45201800	Enhancers	HMEC	breast
11	chr11:45201000-45201600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:45201000-45201600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:45201000-45201600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:45201000-45201600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:45201000-45201600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:45201000-45201600	Enhancers	Esophagus	oesophagus
17	chr11:45201000-45201600	Enhancers	Lung	lung
18	chr11:45201000-45201600	Bivalent Enhancer	GM12878-XiMat	blood
19	chr11:45201000-45201600	Enhancers	HSMMtube	muscle
20	chr11:45201000-45201600	Enhancers	HUVEC	blood vessel
21	chr11:45201000-45201800	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr11:45201000-45201800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr11:45201000-45201800	Flanking Active TSS	Hela-S3	cervix
24	chr11:45201000-45201800	Flanking Active TSS	NHEK	skin
25	chr11:45201000-45202000	Enhancers	K562	blood
26	chr11:45201000-45202400	Enhancers	Placenta	Placenta
27	chr11:45201000-45202400	Enhancers	NHLF	lung
28	chr11:45201200-45201600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:45201200-45201600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:45201200-45201600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:45201200-45201600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:45201200-45201600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
33	chr11:45201200-45201600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:45201200-45201600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr11:45201200-45201600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:45201200-45201600	Enhancers	Liver	Liver
37	chr11:45201200-45201600	Enhancers	Brain Substantia Nigra	brain
38	chr11:45201200-45201600	Enhancers	Gastric	stomach
39	chr11:45201200-45201600	Enhancers	Ovary	ovary
40	chr11:45201200-45201600	Enhancers	Psoas Muscle	Psoas
41	chr11:45201200-45201600	Enhancers	Spleen	Spleen
42	chr11:45201200-45201800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr11:45201200-45201800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
44	chr11:45201200-45201800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:45201200-45201800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:45201200-45201800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:45201200-45201800	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr11:45201200-45201800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:45201200-45201800	Flanking Active TSS	Fetal Heart	heart
50	chr11:45201200-45201800	Flanking Active TSS	Rectal Smooth Muscle	rectum

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