Variant report

Variant	esv3341472
Chromosome Location	chr11:66083401-66085949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:191)
CpG islands
(count:794)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:191 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:66085810-66086010	HepG2	liver:	n/a	n/a
2	ATF2	chr11:66085181-66085650	GM12878	blood:	n/a	n/a
3	ATF3	chr11:66085853-66086055	K562	blood:	n/a	n/a
4	BHLHE40	chr11:66084802-66085065	GM12878	blood:	n/a	n/a
5	BHLHE40	chr11:66085316-66085732	GM12878	blood:	n/a	n/a
6	BRCA1	chr11:66085896-66086116	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr11:66085731-66086138	H1-hESC	embryonic stem cell:	n/a	chr11:66085952-66085963
8	CEBPB	chr11:66085730-66086226	A549	lung:	n/a	chr11:66085952-66085963
9	CEBPB	chr11:66085555-66086244	A549	lung:	n/a	chr11:66085952-66085963 chr11:66085682-66085690
10	CEBPB	chr11:66085758-66086157	K562	blood:	n/a	chr11:66085952-66085963
11	CEBPB	chr11:66085470-66086155	HepG2	liver:	n/a	chr11:66085952-66085963 chr11:66085682-66085690
12	CEBPB	chr11:66085803-66086148	ECC-1	luminal epithelium:	n/a	chr11:66085952-66085963
13	CEBPB	chr11:66085716-66086151	K562	blood:	n/a	chr11:66085952-66085963
14	CEBPB	chr11:66085748-66086195	A549	lung:	n/a	chr11:66085952-66085963
15	CEBPB	chr11:66085831-66086012	K562	blood:	n/a	chr11:66085952-66085963
16	CEBPB	chr11:66085609-66086228	MCF-7	breast:	n/a	chr11:66085952-66085963 chr11:66085682-66085690
17	CEBPB	chr11:66085629-66086207	MCF-7	breast:	n/a	chr11:66085952-66085963 chr11:66085682-66085690
18	CEBPB	chr11:66085420-66086274	IMR90	lung:	n/a	chr11:66085952-66085963 chr11:66085682-66085690
19	CEBPB	chr11:66085791-66086042	HepG2	liver:	n/a	chr11:66085952-66085963
20	CEBPB	chr11:66085704-66086194	HepG2	liver:	n/a	chr11:66085952-66085963
21	CEBPB	chr11:66085734-66086159	Hela-S3	cervix:	n/a	chr11:66085952-66085963
22	CEBPB	chr11:66085716-66086146	ECC-1	luminal epithelium:	n/a	chr11:66085952-66085963
23	CEBPB	chr11:66084878-66085170	IMR90	lung:	n/a	n/a
24	CEBPB	chr11:66085786-66086115	HepG2	liver:	n/a	chr11:66085952-66085963
25	CEBPD	chr11:66085763-66086147	HepG2	liver:	n/a	n/a
26	CEBPD	chr11:66085787-66086099	HepG2	liver:	n/a	n/a
27	CHD1	chr11:66078976-66086837	IMR90	lung:	n/a	n/a
28	CHD2	chr11:66085904-66086118	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr11:66084981-66085627	GM12878	blood:	n/a	n/a
30	CHD2	chr11:66084440-66084479	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr11:66084350-66084618	HepG2	liver:	n/a	n/a
32	CHD2	chr11:66085435-66085753	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr11:66084927-66086285	GM12878	blood:	n/a	n/a
34	CREB1	chr11:66084819-66086272	HepG2	liver:	n/a	n/a
35	CREB1	chr11:66085357-66086283	HepG2	liver:	n/a	n/a
36	CTCF	chr11:66085008-66085055	GM19239	blood:	n/a	n/a
37	CTCF	chr11:66083520-66083670	AG04449	skin:	n/a	n/a
38	CTCF	chr11:66085920-66086070	BE2_C	brain:	n/a	chr11:66086050-66086060
39	E2F4	chr11:66085902-66086026	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F6	chr11:66085520-66085768	K562	blood:	n/a	chr11:66085640-66085652 chr11:66085607-66085617
41	E2F6	chr11:66085292-66085952	H1-hESC	embryonic stem cell:	n/a	chr11:66085640-66085652 chr11:66085607-66085617
42	E2F6	chr11:66085170-66086118	H1-hESC	embryonic stem cell:	n/a	chr11:66085640-66085652 chr11:66085607-66085617
43	EBF1	chr11:66084810-66085204	GM12878	blood:	n/a	n/a
44	EBF1	chr11:66084808-66085088	GM12878	blood:	n/a	n/a
45	EBF1	chr11:66085250-66085595	GM12878	blood:	n/a	n/a
46	EBF1	chr11:66084858-66084951	GM12878	blood:	n/a	n/a
47	ELF1	chr11:66085178-66085760	GM12878	blood:	n/a	n/a
48	ELF1	chr11:66085171-66085659	GM12878	blood:	n/a	n/a
49	ELK1	chr11:66085424-66085655	GM12878	blood:	n/a	n/a
50	EP300	chr11:66085799-66086129	Hela-S3	cervix:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66084599-66084649	SK-N-SH	brain:	n/a
2	chr11:66084599-66084649	SK-N-SH	brain:	n/a
3	chr11:66085250-66085300	LNCaP	prostate:	n/a
4	chr11:66084599-66084649	PANC-1	pancreas:	n/a
5	chr11:66083541-66083591	SK-N-MC	brain:	n/a
6	chr11:66083541-66083591	PANC-1	pancreas:	n/a
7	chr11:66085299-66085349	Hepatocyte	liver:	n/a
8	chr11:66084469-66084519	PANC-1	pancreas:	n/a
9	chr11:66083766-66083816	HPAEpiC	pulmonary alveolar:	n/a
10	chr11:66084660-66084710	H1-hESC	embryonic stem cell:	embryo
11	chr11:66083541-66083591	LNCaP	prostate:	n/a
12	chr11:66083573-66083623	ovcar-3	ovarian:	n/a
13	chr11:66084163-66084213	AG09309	skin:	n/a
14	chr11:66085299-66085349	HIPEpiC	eye:	n/a
15	chr11:66085250-66085300	HPAEpiC	pulmonary alveolar:	n/a
16	chr11:66085299-66085349	GM12892	blood:	n/a
17	chr11:66084841-66084891	HEEpiC	esophagus:	n/a
18	chr11:66084599-66084649	GM12878	blood:	n/a
19	chr11:66084660-66084710	AoSMC	blood vessel:	n/a
20	chr11:66084660-66084710	RPTEC	kidney:	n/a
21	chr11:66083697-66083747	PANC-1	pancreas:	n/a
22	chr11:66084631-66084681	BJ	skin:	n/a
23	chr11:66084599-66084649	CMK	blood:	n/a
24	chr11:66083766-66083816	SAEC	small airway:	n/a
25	chr11:66083541-66083591	ECC-1	luminal epithelium:	n/a
26	chr11:66083697-66083747	LNCaP	prostate:	n/a
27	chr11:66085846-66085896	SKMC	muscle:	n/a
28	chr11:66084163-66084213	HEK293	kidney:	embryo
29	chr11:66085250-66085300	MCF10A-Er-Src	breast:	n/a
30	chr11:66085846-66085896	H1-hESC	embryonic stem cell:	embryo
31	chr11:66084660-66084710	Hepatocyte	liver:	n/a
32	chr11:66085250-66085300	GM12891	blood:	n/a
33	chr11:66084841-66084891	HAEpiC	amniotic membrane:	n/a
34	chr11:66083573-66083623	HMEC	breast:	n/a
35	chr11:66085846-66085896	HNPCEpiC	eye:	n/a
36	chr11:66084599-66084649	AG04450	lung:	fetal
37	chr11:66083766-66083816	NB4	blood:	n/a
38	chr11:66085250-66085300	HRE	kidney:	n/a
39	chr11:66085299-66085349	HCF	heart:	n/a
40	chr11:66083697-66083747	HRE	kidney:	n/a
41	chr11:66085250-66085300	BE2_C	brain:	n/a
42	chr11:66084599-66084649	HCPEpiC	choroid plexus:	n/a
43	chr11:66083573-66083623	GM12891	blood:	n/a
44	chr11:66083766-66083816	HCM	heart:	n/a
45	chr11:66084163-66084213	HAEpiC	amniotic membrane:	n/a
46	chr11:66084469-66084519	NT2-D1	testis:	n/a
47	chr11:66085250-66085300	HNPCEpiC	eye:	n/a
48	chr11:66084631-66084681	GM12878	blood:	n/a
49	chr11:66084163-66084213	HPAEpiC	pulmonary alveolar:	n/a
50	chr11:66084841-66084891	IMR90	lung:	fetal

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66079398..66082242-chr11:66082522..66086120,5	K562	blood:
2	chr11:66053947..66059144-chr11:66077550..66083439,18	K562	blood:
3	chr11:65684297..65686517-chr11:66083132..66085712,2	MCF-7	breast:
4	chr11:66054909..66058395-chr11:66084021..66087571,3	K562	blood:
5	chr11:66081234..66083776-chr11:66137430..66138945,2	MCF-7	breast:
6	chr11:66084372..66086380-chr11:66109864..66112582,2	MCF-7	breast:
7	chr11:65997353..66000278-chr11:66085133..66087702,2	K562	blood:
8	chr11:66085300..66087930-chr11:66392771..66394430,2	K562	blood:
9	chr11:66056386..66058686-chr11:66082623..66084625,3	MCF-7	breast:
10	chr11:66083086..66084913-chr11:66102353..66104167,3	MCF-7	breast:
11	chr11:66085245..66088151-chr11:66126430..66129737,4	MCF-7	breast:
12	chr11:66081995..66084304-chr11:66094378..66096695,2	MCF-7	breast:
13	chr11:66082434..66085363-chr11:66203796..66205513,2	K562	blood:

No data

Variant related genes	Relation type
CD248	TF binding region
CD248	CpG island
ENSG00000174744	chromatin interactions
ENSG00000174547	chromatin interactions
ENSG00000175115	chromatin interactions
ENSG00000254458	chromatin interactions
ENSG00000175573	chromatin interactions
ENSG00000174791	chromatin interactions
ENSG00000174851	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375102677	chr11:66083406-66083407	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs571476228	chr11:66083437-66083438	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs527596561	chr11:66083464-66083465	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs547161139	chr11:66083476-66083477	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs368068385	chr11:66083484-66083485	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs371798053	chr11:66083485-66083486	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs567101882	chr11:66083491-66083492	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs199986876	chr11:66083511-66083512	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs536083548	chr11:66083512-66083513	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs201388542	chr11:66083515-66083516	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs141347429	chr11:66083542-66083543	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs369118303	chr11:66083548-66083549	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs372966232	chr11:66083568-66083569	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs191098817	chr11:66083573-66083574	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs377247267	chr11:66083575-66083576	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs547491652	chr11:66083578-66083579	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs150281243	chr11:66083591-66083592	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs138947853	chr11:66083597-66083598	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs200653218	chr11:66083610-66083611	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs369829580	chr11:66083621-66083622	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs148994310	chr11:66083635-66083636	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs374192163	chr11:66083640-66083641	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs558286010	chr11:66083649-66083650	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs143667648	chr11:66083659-66083660	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs138260039	chr11:66083663-66083664	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs143931022	chr11:66083666-66083667	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs147266530	chr11:66083672-66083673	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs200973487	chr11:66083678-66083679	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs138870896	chr11:66083693-66083694	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs141264561	chr11:66083698-66083699	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs199880878	chr11:66083701-66083702	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs150759404	chr11:66083723-66083724	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs202021533	chr11:66083739-66083740	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs143716355	chr11:66083740-66083741	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs543288231	chr11:66083742-66083743	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs34524229	chr11:66083751-66083752	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs374111451	chr11:66083758-66083759	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs541588737	chr11:66083767-66083768	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs190495509	chr11:66083773-66083774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs3741368	chr11:66083782-66083783	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs369400108	chr11:66083808-66083809	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs149949198	chr11:66083816-66083817	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs565157270	chr11:66083825-66083826	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs370925446	chr11:66083835-66083836	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs527706219	chr11:66083841-66083842	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs534962077	chr11:66083885-66083886	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs547272895	chr11:66083894-66083895	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs372761607	chr11:66083902-66083903	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs567271111	chr11:66083908-66083909	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs145950669	chr11:66083913-66083914	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66079400-66083600	Active TSS	Psoas Muscle	Psoas
2	chr11:66079400-66085000	Active TSS	Fetal Kidney	kidney
3	chr11:66079400-66085000	Active TSS	Right Atrium	heart
4	chr11:66080400-66083600	Flanking Active TSS	Fetal Thymus	thymus
5	chr11:66080600-66084000	Weak transcription	Aorta	Aorta
6	chr11:66080600-66084400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:66080600-66084600	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr11:66080800-66083600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:66080800-66084000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
10	chr11:66080800-66085000	Weak transcription	Liver	Liver
11	chr11:66080800-66085000	Weak transcription	Brain Substantia Nigra	brain
12	chr11:66080800-66085000	Weak transcription	HSMMtube	muscle
13	chr11:66081000-66083600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:66081000-66084600	Weak transcription	Brain Angular Gyrus	brain
15	chr11:66081000-66084800	Weak transcription	HSMM	muscle
16	chr11:66081000-66085000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr11:66081000-66085000	Active TSS	Left Ventricle	heart
18	chr11:66081000-66085200	Flanking Active TSS	Osteobl	bone
19	chr11:66081200-66083600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr11:66081200-66084400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:66081200-66084800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:66081200-66085000	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:66081400-66084000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:66081400-66084000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:66081400-66084200	Weak transcription	Fetal Heart	heart
26	chr11:66081400-66084200	Weak transcription	Small Intestine	intestine
27	chr11:66081400-66084800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:66081400-66084800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:66081400-66084800	Weak transcription	GM12878-XiMat	blood
30	chr11:66081400-66085000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:66081400-66085000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr11:66081400-66085000	Weak transcription	A549	lung
33	chr11:66081600-66083600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:66081600-66083800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:66081600-66083800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:66081600-66083800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:66081600-66083800	Weak transcription	Gastric	stomach
38	chr11:66081600-66083800	Weak transcription	Dnd41	blood
39	chr11:66081600-66084000	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr11:66081600-66084400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:66081800-66083600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:66081800-66083600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:66081800-66083600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr11:66081800-66083600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
45	chr11:66081800-66083800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
46	chr11:66081800-66084000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:66081800-66084000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:66081800-66084000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:66081800-66084600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr11:66081800-66085000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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