Variant report

Variant	esv2760199
Chromosome Location	chr11:86512312-86531118
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:901)
CpG islands
(count:366)
Chromatin interactive
region (count:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:901 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr11:86522622-86523286	A549	lung:	n/a	n/a
2	BACH1	chr11:86522696-86523071	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr11:86516888-86517171	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr11:86517066-86517390	GM12878	blood:	n/a	n/a
5	BATF	chr11:86517089-86517449	GM12878	blood:	n/a	n/a
6	BCL3	chr11:86522195-86523660	A549	lung:	n/a	chr11:86523490-86523499
7	BCL3	chr11:86522210-86523620	A549	lung:	n/a	chr11:86523490-86523499
8	BHLHE40	chr11:86513626-86513680	A549	lung:	n/a	n/a
9	BRCA1	chr11:86512167-86513179	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr11:86529478-86530148	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr11:86522578-86523484	HCT-116	colon:	n/a	n/a
12	CEBPB	chr11:86529478-86529863	Hela-S3	cervix:	n/a	chr11:86529561-86529574
13	CEBPB	chr11:86512530-86512891	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr11:86513650-86514008	Hela-S3	cervix:	n/a	chr11:86513902-86513913 chr11:86513902-86513913 chr11:86513902-86513915
15	CEBPB	chr11:86522551-86523526	HCT-116	colon:	n/a	n/a
16	CEBPB	chr11:86527095-86527447	A549	lung:	n/a	n/a
17	CEBPB	chr11:86522587-86523319	A549	lung:	n/a	n/a
18	CEBPB	chr11:86529486-86529863	A549	lung:	n/a	chr11:86529561-86529574
19	CHD1	chr11:86529072-86530364	IMR90	lung:	n/a	n/a
20	CHD1	chr11:86529500-86529792	GM12878	blood:	n/a	n/a
21	CHD2	chr11:86510667-86512726	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr11:86513637-86514006	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr11:86522720-86523123	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr11:86513799-86513865	GM19240	blood:	n/a	n/a
25	CTCF	chr11:86529459-86529910	HepG2	liver:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
26	CTCF	chr11:86513701-86513898	GM13977	blood:	n/a	n/a
27	CTCF	chr11:86513780-86513930	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr11:86513760-86513910	NHLF	lung:	n/a	n/a
29	CTCF	chr11:86513707-86513919	MCF-7	breast:	n/a	n/a
30	CTCF	chr11:86513688-86513905	LNCaP	prostate:	n/a	n/a
31	CTCF	chr11:86529620-86529770	HUVEC	blood vessel:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
32	CTCF	chr11:86529980-86530130	GM12872	blood:	n/a	n/a
33	CTCF	chr11:86529900-86530050	AG04450	lung:	n/a	n/a
34	CTCF	chr11:86529620-86529770	GM12865	blood:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
35	CTCF	chr11:86529940-86530090	GM12869	blood:	n/a	n/a
36	CTCF	chr11:86513720-86513870	HEK293	kidney:	n/a	n/a
37	CTCF	chr11:86529620-86529770	MCF-7	breast:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
38	CTCF	chr11:86529640-86529790	SK-N-SH_RA	brain:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
39	CTCF	chr11:86513590-86514010	A549	lung:	n/a	n/a
40	CTCF	chr11:86513760-86513910	GM12873	blood:	n/a	n/a
41	CTCF	chr11:86513740-86513890	AG09319	gingival:	n/a	n/a
42	CTCF	chr11:86529620-86529770	SAEC	small airway:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
43	CTCF	chr11:86513700-86513850	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr11:86529630-86529766	GM19240	blood:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
45	CTCF	chr11:86513780-86513930	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr11:86529522-86529845	ECC-1	luminal epithelium:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
47	CTCF	chr11:86514826-86514947	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr11:86513746-86513896	Fibrobl	skin:	n/a	n/a
49	CTCF	chr11:86529566-86529848	T-47D	breast:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717
50	CTCF	chr11:86529640-86529790	RPTEC	kidney:	n/a	chr11:86529706-86529715 chr11:86529695-86529716 chr11:86529700-86529718 chr11:86529701-86529717

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:86522462-86522512	HCPEpiC	choroid plexus:	n/a
2	chr11:86514631-86514681	CMK	blood:	n/a
3	chr11:86514631-86514681	HAEpiC	amniotic membrane:	n/a
4	chr11:86522462-86522512	HUVEC	blood vessel:	n/a
5	chr11:86519158-86519208	AG09309	skin:	n/a
6	chr11:86521516-86521566	Hela-S3	cervix:	n/a
7	chr11:86526022-86526072	NT2-D1	testis:	n/a
8	chr11:86529655-86529705	BJ	skin:	n/a
9	chr11:86522462-86522512	AG10803	skin:	n/a
10	chr11:86522462-86522512	U87	brain:	n/a
11	chr11:86526022-86526072	PrEC	prostate:	n/a
12	chr11:86526022-86526072	Hela-S3	cervix:	n/a
13	chr11:86529655-86529705	GM12878	blood:	n/a
14	chr11:86521516-86521566	Jurkat	blood:	n/a
15	chr11:86522462-86522512	HL-60	blood:	n/a
16	chr11:86519158-86519208	ProgFib	skin:	n/a
17	chr11:86522462-86522512	BJ	skin:	n/a
18	chr11:86526022-86526072	IMR90	lung:	fetal
19	chr11:86526022-86526072	Caco-2	colon:	n/a
20	chr11:86526022-86526072	PFSK-1	brain:	n/a
21	chr11:86521516-86521566	CMK	blood:	n/a
22	chr11:86521516-86521566	PrEC	prostate:	n/a
23	chr11:86521516-86521566	NH-A	brain:	n/a
24	chr11:86526022-86526072	A549	lung:	n/a
25	chr11:86521516-86521566	HCT-116	colon:	n/a
26	chr11:86526022-86526072	BE2_C	brain:	n/a
27	chr11:86519158-86519208	SK-N-SH_RA	brain:	n/a
28	chr11:86529655-86529705	HRE	kidney:	n/a
29	chr11:86521516-86521566	HUVEC	blood vessel:	n/a
30	chr11:86519158-86519208	IMR90	lung:	fetal
31	chr11:86514631-86514681	HCM	heart:	n/a
32	chr11:86519158-86519208	BJ	skin:	n/a
33	chr11:86519158-86519208	H1-hESC	embryonic stem cell:	embryo
34	chr11:86522462-86522512	HAEpiC	amniotic membrane:	n/a
35	chr11:86521516-86521566	HRE	kidney:	n/a
36	chr11:86522462-86522512	GM06990	blood:	n/a
37	chr11:86519158-86519208	AG09319	gingival:	n/a
38	chr11:86521516-86521566	ovcar-3	ovarian:	n/a
39	chr11:86521516-86521566	AG04450	lung:	fetal
40	chr11:86521516-86521566	ECC-1	luminal epithelium:	n/a
41	chr11:86514631-86514681	A549	lung:	n/a
42	chr11:86526022-86526072	HEEpiC	esophagus:	n/a
43	chr11:86529655-86529705	T-47D	breast:	n/a
44	chr11:86519158-86519208	MCF-7	breast:	n/a
45	chr11:86514631-86514681	NHBE	bronchial:	n/a
46	chr11:86526022-86526072	LNCaP	prostate:	n/a
47	chr11:86526022-86526072	GM06990	blood:	n/a
48	chr11:86522462-86522512	RPTEC	kidney:	n/a
49	chr11:86514631-86514681	PFSK-1	brain:	n/a
50	chr11:86514631-86514681	BE2_C	brain:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:86510061..86515412-chr11:86524967..86529841,8	MCF-7	breast:
2	chr11:86516893..86519182-chr11:86522443..86524775,2	K562	blood:
3	chr11:86168596..86172615-chr11:86512849..86516301,3	MCF-7	breast:
4	chr11:86012430..86015246-chr11:86529732..86532220,2	K562	blood:
5	chr11:86419479..86421518-chr11:86511993..86513622,2	MCF-7	breast:
6	chr11:85338593..85340102-chr11:86521457..86524280,2	MCF-7	breast:
7	chr11:86440758..86442314-chr11:86511622..86514014,2	MCF-7	breast:
8	chr11:86381955..86384212-chr11:86522586..86525573,2	MCF-7	breast:
9	chr11:86519601..86524011-chr11:86524298..86526997,5	MCF-7	breast:
10	chr11:86387500..86388166-chr11:86513307..86514298,2	MCF-7	breast:
11	chr11:86525218..86527255-chr11:86527296..86529166,3	MCF-7	breast:
12	chr11:86339668..86341867-chr11:86523137..86524970,2	MCF-7	breast:
13	chr11:86313579..86315805-chr11:86518203..86520987,2	MCF-7	breast:
14	chr11:86525218..86527255-chr11:86527296..86529166,3	MCF-7	breast:
15	chr11:86406157..86407720-chr11:86518083..86520022,2	MCF-7	breast:
16	chr11:86317084..86318773-chr11:86517876..86519532,2	MCF-7	breast:
17	chr11:86527774..86530543-chr11:86627685..86629323,2	MCF-7	breast:
18	chr11:86352364..86354456-chr11:86522479..86524729,2	MCF-7	breast:
19	chr11:86519601..86524011-chr11:86524298..86526997,5	MCF-7	breast:
20	chr11:86208558..86211731-chr11:86511256..86513544,4	MCF-7	breast:
21	chr11:86071532..86072478-chr11:86529286..86529817,2	MCF-7	breast:
22	chr11:86319134..86320072-chr11:86529181..86530084,3	MCF-7	breast:
23	chr11:86512936..86514521-chr17:56707897..56710223,2	MCF-7	breast:
24	chr11:86521236..86523996-chr17:56707243..56709705,2	MCF-7	breast:
25	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
26	chr11:86432743..86434805-chr11:86511813..86513360,2	MCF-7	breast:
27	chr11:86381425..86386014-chr11:86508895..86515059,6	MCF-7	breast:
28	chr11:86487507..86489179-chr11:86528205..86530836,2	MCF-7	breast:
29	chr11:45823710..45826999-chr11:86510358..86513611,4	MCF-7	breast:
30	chr11:86525515..86527184-chr11:86529410..86531727,2	K562	blood:
31	chr11:86379738..86380661-chr11:86512962..86514131,4	MCF-7	breast:
32	chr11:86510417..86513146-chr20:45982984..45985420,2	MCF-7	breast:
33	chr11:86281178..86281704-chr11:86529595..86530161,2	MCF-7	breast:
34	chr11:86316921..86319182-chr11:86528850..86531026,2	MCF-7	breast:
35	chr11:86166230..86170690-chr11:86512399..86515625,4	MCF-7	breast:
36	chr11:86509457..86512204-chr11:86513556..86515682,3	K562	blood:
37	chr11:86343672..86346376-chr11:86522786..86524329,2	MCF-7	breast:
38	chr11:45823561..45828126-chr11:86528256..86531993,4	MCF-7	breast:
39	chr11:86318927..86319769-chr11:86513386..86514103,3	MCF-7	breast:
40	chr11:86318542..86319850-chr11:86528941..86530646,11	MCF-7	breast:
41	chr11:86516893..86519182-chr11:86522443..86524775,2	K562	blood:
42	chr11:86194046..86196274-chr11:86514380..86517149,2	MCF-7	breast:
43	chr11:86166964..86167689-chr11:86529220..86530159,2	MCF-7	breast:
44	chr11:86192819..86194557-chr11:86511589..86513342,2	MCF-7	breast:
45	chr11:86333716..86335655-chr11:86521325..86523278,2	MCF-7	breast:
46	chr11:86345451..86347957-chr11:86512981..86515684,2	MCF-7	breast:
47	chr11:86166854..86168088-chr11:86529201..86530237,9	K562	blood:
48	chr11:45906833..45909532-chr11:86518433..86520063,2	MCF-7	breast:
49	chr11:86411235..86420303-chr11:86507153..86518645,29	MCF-7	breast:
50	chr11:86525515..86527184-chr11:86529410..86531727,2	K562	blood:

No data

Variant related genes	Relation type
PRSS23	TF binding region
PRSS23	CpG island
ENSG00000254731	chromatin interactions
ENSG00000150687	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000151376	chromatin interactions
ENSG00000149196	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000171204	chromatin interactions
ENSG00000150672	chromatin interactions
ENSG00000121653	chromatin interactions
ENSG00000181830	chromatin interactions

Extended variants
information (count: 737 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:737 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146813089	chr11:86512329-86512330	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs566920275	chr11:86512345-86512346	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs76649955	chr11:86512373-86512374	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs78191585	chr11:86512374-86512375	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs184883253	chr11:86512379-86512380	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs189813828	chr11:86512448-86512449	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs181072011	chr11:86512451-86512452	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs576512654	chr11:86512470-86512471	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs34368656	chr11:86512496-86512497	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs545458499	chr11:86512570-86512571	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs371485536	chr11:86512587-86512588	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs572903228	chr11:86512590-86512591	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs542115386	chr11:86512594-86512595	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs184265779	chr11:86512613-86512614	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs568562877	chr11:86512659-86512660	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs575642502	chr11:86512661-86512662	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs189361379	chr11:86512749-86512750	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs547035393	chr11:86512752-86512753	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs533483101	chr11:86512803-86512804	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs543164185	chr11:86512938-86512939	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs374129943	chr11:86512940-86512941	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs552575953	chr11:86512946-86512947	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs368313280	chr11:86512949-86512950	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs549695452	chr11:86512955-86512956	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs140524337	chr11:86512973-86512974	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs150345008	chr11:86512982-86512983	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs537773718	chr11:86512991-86512992	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs372096730	chr11:86512996-86512997	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs576652508	chr11:86513003-86513004	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs570085924	chr11:86513013-86513014	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs543919973	chr11:86513037-86513038	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs36010287	chr11:86513058-86513059	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs138053642	chr11:86513094-86513095	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs573034451	chr11:86513147-86513148	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs115774339	chr11:86513172-86513173	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs559551278	chr11:86513178-86513179	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs79905235	chr11:86513258-86513259	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs185960832	chr11:86513273-86513274	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs559305396	chr11:86513277-86513278	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs149514850	chr11:86513325-86513326	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs190618018	chr11:86513326-86513327	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs560377043	chr11:86513357-86513358	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs529515181	chr11:86513359-86513360	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs549294188	chr11:86513367-86513368	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs181777881	chr11:86513371-86513372	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs531903122	chr11:86513398-86513399	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs35141014	chr11:86513403-86513404	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs551611067	chr11:86513463-86513464	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs570121848	chr11:86513495-86513496	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs143169217	chr11:86513520-86513521	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:937 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86510800-86512400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:86510800-86512400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr11:86510800-86512600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:86510800-86512600	Active TSS	NHLF	lung
5	chr11:86510800-86513600	Active TSS	Fetal Brain Female	brain
6	chr11:86511000-86512400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:86511000-86512400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:86511000-86512600	Bivalent/Poised TSS	Thymus	Thymus
9	chr11:86511000-86512800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:86511000-86513200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:86511000-86513400	Active TSS	Aorta	Aorta
12	chr11:86511000-86513400	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr11:86511000-86513800	Active TSS	Ovary	ovary
14	chr11:86511000-86514000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:86511000-86514000	Active TSS	Fetal Kidney	kidney
16	chr11:86511000-86514800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:86511200-86512400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:86511200-86512400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:86511200-86512400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:86511200-86512600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:86511200-86512600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:86511200-86512600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:86511200-86512600	Flanking Active TSS	Liver	Liver
24	chr11:86511200-86512600	Active TSS	Pancreas	Pancrea
25	chr11:86511200-86512600	Active TSS	Psoas Muscle	Psoas
26	chr11:86511200-86512800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:86511200-86512800	Active TSS	Left Ventricle	heart
28	chr11:86511200-86512800	Active TSS	NHDF-Ad	bronchial
29	chr11:86511200-86512800	Active TSS	NHEK	skin
30	chr11:86511200-86513000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:86511200-86513200	Active TSS	HSMM	muscle
32	chr11:86511200-86513400	Active TSS	A549	lung
33	chr11:86511200-86513600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:86511200-86513800	Active TSS	Colon Smooth Muscle	Colon
35	chr11:86511200-86513800	Active TSS	Rectal Smooth Muscle	rectum
36	chr11:86511200-86513800	Active TSS	HSMMtube	muscle
37	chr11:86511200-86514000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:86511200-86514000	Active TSS	Fetal Stomach	stomach
39	chr11:86511200-86514000	Active TSS	Right Atrium	heart
40	chr11:86511200-86514000	Active TSS	Hela-S3	cervix
41	chr11:86511200-86514400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:86511400-86512400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:86511400-86512600	Active TSS	Small Intestine	intestine
44	chr11:86511400-86512600	Active TSS	HMEC	breast
45	chr11:86511400-86512600	Active TSS	HUVEC	blood vessel
46	chr11:86511400-86512600	Active TSS	NH-A	brain
47	chr11:86511400-86513000	Active TSS	Placenta Amnion	Placenta Amnion
48	chr11:86511400-86513000	Active TSS	Right Ventricle	heart
49	chr11:86511400-86513200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:86511400-86513600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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