Variant report

Variant	nsv516767
Chromosome Location	chr11:17758587-17809724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1025)
CpG islands
(count:1466)
Chromatin interactive
region (count:64)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1025 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:17791527-17791963	HepG2	liver:	n/a	n/a
2	ATF1	chr11:17783928-17784200	K562	blood:	n/a	n/a
3	BACH1	chr11:17808619-17808727	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:17781712-17781838	K562	blood:	n/a	n/a
5	BACH1	chr11:17781684-17782192	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr11:17781973-17782310	K562	blood:	n/a	n/a
7	BHLHE40	chr11:17799360-17799604	K562	blood:	n/a	n/a
8	BHLHE40	chr11:17791514-17791889	K562	blood:	n/a	n/a
9	BHLHE40	chr11:17782021-17782165	GM12878	blood:	n/a	n/a
10	BHLHE40	chr11:17791512-17792072	HepG2	liver:	n/a	n/a
11	BHLHE40	chr11:17784019-17784137	K562	blood:	n/a	n/a
12	BRCA1	chr11:17781963-17782291	HepG2	liver:	n/a	n/a
13	CBX3	chr11:17791632-17791866	K562	blood:	n/a	n/a
14	CBX3	chr11:17781908-17782256	K562	blood:	n/a	n/a
15	CEBPB	chr11:17779188-17779456	IMR90	lung:	n/a	chr11:17779294-17779305
16	CEBPB	chr11:17772343-17772697	HepG2	liver:	n/a	chr11:17772511-17772522
17	CEBPB	chr11:17791598-17791899	HepG2	liver:	n/a	n/a
18	CEBPB	chr11:17772512-17772518	K562	blood:	n/a	n/a
19	CEBPB	chr11:17772409-17772648	HepG2	liver:	n/a	chr11:17772511-17772522
20	CEBPB	chr11:17772452-17772532	H1-hESC	embryonic stem cell:	n/a	chr11:17772511-17772522
21	CEBPB	chr11:17779238-17779303	HepG2	liver:	n/a	n/a
22	CEBPB	chr11:17776105-17776129	HepG2	liver:	n/a	n/a
23	CEBPB	chr11:17772354-17772618	HepG2	liver:	n/a	chr11:17772511-17772522
24	CEBPB	chr11:17782011-17782346	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr11:17772414-17772625	Hela-S3	cervix:	n/a	chr11:17772511-17772522
26	CEBPB	chr11:17772348-17772662	HepG2	liver:	n/a	chr11:17772511-17772522
27	CEBPD	chr11:17791540-17791900	HepG2	liver:	n/a	n/a
28	CHD2	chr11:17781920-17782286	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr11:17791517-17791901	HepG2	liver:	n/a	n/a
30	CHD2	chr11:17791554-17791821	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr11:17791574-17791809	K562	blood:	n/a	n/a
32	CHD2	chr11:17782199-17782328	K562	blood:	n/a	n/a
33	CHD2	chr11:17782114-17782122	GM12878	blood:	n/a	n/a
34	CHD2	chr11:17791537-17791869	Hela-S3	cervix:	n/a	n/a
35	CREB1	chr11:17783938-17784298	K562	blood:	n/a	n/a
36	CTCF	chr11:17791620-17791770	HCFaa	heart:	n/a	chr11:17791735-17791748 chr11:17791733-17791751
37	CTCF	chr11:17792560-17792710	AG04449	skin:	n/a	chr11:17792652-17792673
38	CTCF	chr11:17791618-17791836	GM12878	blood:	n/a	chr11:17791735-17791748 chr11:17791733-17791751
39	CTCF	chr11:17788281-17788335	Gliobla	brain:	n/a	n/a
40	CTCF	chr11:17782020-17782170	AoAF	blood vessel:	n/a	chr11:17782162-17782170 chr11:17782099-17782112 chr11:17782096-17782114 chr11:17782098-17782119
41	CTCF	chr11:17783960-17784110	GM12869	blood:	n/a	n/a
42	CTCF	chr11:17792580-17792730	NHDF-neo	bronchial:	n/a	chr11:17792652-17792673
43	CTCF	chr11:17788180-17788330	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr11:17791600-17791750	GM12878	blood:	n/a	chr11:17791735-17791748
45	CTCF	chr11:17788230-17788415	K562	blood:	n/a	chr11:17788326-17788336
46	CTCF	chr11:17788260-17788410	Caco-2	colon:	n/a	chr11:17788326-17788336
47	CTCF	chr11:17792520-17792670	BJ	skin:	n/a	n/a
48	CTCF	chr11:17801848-17801903	LNCaP	prostate:	n/a	chr11:17801851-17801872 chr11:17801858-17801871 chr11:17801856-17801874 chr11:17801857-17801873
49	CTCF	chr11:17781975-17782246	H1-hESC	embryonic stem cell:	n/a	chr11:17782162-17782170 chr11:17782099-17782112 chr11:17782096-17782114 chr11:17782098-17782119
50	CTCF	chr11:17781952-17782228	LNCaP	prostate:	n/a	chr11:17782162-17782170 chr11:17782099-17782112 chr11:17782096-17782114 chr11:17782098-17782119

(count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17793350-17793400	MCF10A-Er-Src	breast:	n/a
2	chr11:17760602-17760652	NB4	blood:	n/a
3	chr11:17793350-17793400	MCF10A-Er-Src	breast:	n/a
4	chr11:17760602-17760652	NB4	blood:	n/a
5	chr11:17794478-17794528	AG04449	skin:	fetal
6	chr11:17794478-17794528	U87	brain:	n/a
7	chr11:17808724-17808774	HRCEpiC	kidney:	n/a
8	chr11:17803160-17803210	HL-60	blood:	n/a
9	chr11:17803160-17803210	SKMC	muscle:	n/a
10	chr11:17808724-17808774	AG04450	lung:	fetal
11	chr11:17794478-17794528	HAEpiC	amniotic membrane:	n/a
12	chr11:17765568-17765618	Hela-S3	cervix:	n/a
13	chr11:17808724-17808774	ECC-1	luminal epithelium:	n/a
14	chr11:17760956-17761006	MCF10A-Er-Src	breast:	n/a
15	chr11:17758537-17758587	PANC-1	pancreas:	n/a
16	chr11:17760602-17760652	HAEpiC	amniotic membrane:	n/a
17	chr11:17765568-17765618	AG04450	lung:	fetal
18	chr11:17793350-17793400	GM12878	blood:	n/a
19	chr11:17803962-17804012	HCT-116	colon:	n/a
20	chr11:17798912-17798962	RPTEC	kidney:	n/a
21	chr11:17793529-17793579	LNCaP	prostate:	n/a
22	chr11:17803421-17803471	ProgFib	skin:	n/a
23	chr11:17801046-17801096	H1-hESC	embryonic stem cell:	embryo
24	chr11:17794478-17794528	Hepatocyte	liver:	n/a
25	chr11:17798912-17798962	Hepatocyte	liver:	n/a
26	chr11:17796490-17796540	HNPCEpiC	eye:	n/a
27	chr11:17801046-17801096	HL-60	blood:	n/a
28	chr11:17803962-17804012	NHDF-neo	bronchial:	n/a
29	chr11:17798912-17798962	PrEC	prostate:	n/a
30	chr11:17760602-17760652	A549	lung:	n/a
31	chr11:17801046-17801096	PFSK-1	brain:	n/a
32	chr11:17799117-17799167	U87	brain:	n/a
33	chr11:17793529-17793579	PrEC	prostate:	n/a
34	chr11:17803369-17803419	AG04450	lung:	fetal
35	chr11:17760956-17761006	NB4	blood:	n/a
36	chr11:17793350-17793400	GM12891	blood:	n/a
37	chr11:17761718-17761768	PANC-1	pancreas:	n/a
38	chr11:17765568-17765618	AG09319	gingival:	n/a
39	chr11:17803160-17803210	U87	brain:	n/a
40	chr11:17760956-17761006	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:17799117-17799167	GM06990	blood:	n/a
42	chr11:17793350-17793400	BJ	skin:	n/a
43	chr11:17758537-17758587	HCM	heart:	n/a
44	chr11:17793350-17793400	ovcar-3	ovarian:	n/a
45	chr11:17793529-17793579	SK-N-MC	brain:	n/a
46	chr11:17790285-17790335	GM06990	blood:	n/a
47	chr11:17758537-17758587	GM12892	blood:	n/a
48	chr11:17760956-17761006	IMR90	lung:	fetal
49	chr11:17760602-17760652	GM06990	blood:	n/a
50	chr11:17799117-17799167	GM12892	blood:	n/a

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:17757319..17757897-chr11:17781730..17782258,2	K562	blood:
2	chr11:17588922..17590478-chr11:17766034..17768818,2	K562	blood:
3	chr11:17802523..17804116-chr11:17831830..17833743,2	MCF-7	breast:
4	chr11:17426978..17427915-chr11:17791365..17792221,7	MCF-7	breast:
5	chr11:17762630..17764298-chr11:17768234..17770289,2	MCF-7	breast:
6	chr11:17783850..17786298-chr11:17789626..17792965,4	K562	blood:
7	chr11:17791157..17792211-chr11:17946174..17946920,6	MCF-7	breast:
8	chr11:17755705..17757483-chr11:17762543..17764877,2	K562	blood:
9	chr11:17791261..17792211-chr11:17946174..17946920,4	MCF-7	breast:
10	chr11:17781047..17783603-chr11:17891179..17893367,2	K562	blood:
11	chr11:17783615..17784490-chr11:17868027..17868802,2	MCF-7	breast:
12	chr11:17789104..17793559-chr11:17796092..17800270,5	MCF-7	breast:
13	chr11:17768773..17771131-chr11:17771902..17774873,3	K562	blood:
14	chr11:17794271..17797051-chr11:17798441..17802132,3	K562	blood:
15	chr11:17426978..17427915-chr11:17791365..17792205,5	MCF-7	breast:
16	chr11:17788184..17788771-chr11:17801223..17802052,2	MCF-7	breast:
17	chr11:17791247..17794224-chr11:17800123..17802336,2	MCF-7	breast:
18	chr11:17783547..17784473-chr11:18000133..18001470,5	MCF-7	breast:
19	chr11:17762630..17764298-chr11:17768234..17770289,2	MCF-7	breast:
20	chr11:17781862..17782597-chr11:17994721..17995346,2	K562	blood:
21	chr11:17782032..17782544-chr11:17801368..17801871,2	MCF-7	breast:
22	chr11:17768263..17770539-chr11:17771638..17773890,2	MCF-7	breast:
23	chr11:17781589..17782577-chr11:17885405..17886255,2	K562	blood:
24	chr11:17781608..17782534-chr11:17926929..17928261,6	MCF-7	breast:
25	chr11:17764908..17766462-chr11:17767114..17769351,2	K562	blood:
26	chr11:17802032..17804366-chr11:17833882..17835723,2	MCF-7	breast:
27	chr11:17783850..17786298-chr11:17789626..17792965,4	K562	blood:
28	chr11:17781544..17782571-chr11:17999973..18000867,4	K562	blood:
29	chr11:17783974..17784521-chr11:17848366..17848887,2	MCF-7	breast:
30	chr11:17757117..17759964-chr11:17765393..17768099,2	MCF-7	breast:
31	chr11:17802511..17804986-chr11:17809141..17810811,2	K562	blood:
32	chr11:17788319..17789007-chr11:17994351..17995171,2	MCF-7	breast:
33	chr11:17752210..17753037-chr11:17762564..17763159,2	K562	blood:
34	chr11:17781854..17784746-chr11:17785272..17786871,2	MCF-7	breast:
35	chr11:17778611..17780573-chr11:17781418..17783922,2	K562	blood:
36	chr11:17788184..17788771-chr11:17801223..17802052,2	MCF-7	breast:
37	chr11:17802511..17804986-chr11:17809141..17810811,2	K562	blood:
38	chr11:17778611..17780573-chr11:17781418..17783922,2	K562	blood:
39	chr11:17782032..17782544-chr11:17801368..17801871,2	MCF-7	breast:
40	chr11:17790395..17791963-chr11:17795616..17797848,2	K562	blood:
41	chr11:17781675..17782374-chr11:17994338..17995285,3	MCF-7	breast:
42	chr11:17790395..17791963-chr11:17795616..17797848,2	K562	blood:
43	chr11:17792903..17795891-chr11:17796035..17799923,4	K562	blood:
44	chr11:17768773..17771131-chr11:17771902..17774873,3	K562	blood:
45	chr11:17781698..17782597-chr11:18001016..18002078,5	K562	blood:
46	chr11:17794271..17797051-chr11:17798441..17802132,3	K562	blood:
47	chr11:17781854..17784746-chr11:17785272..17786871,2	MCF-7	breast:
48	chr11:17783515..17784102-chr11:17848668..17849177,2	MCF-7	breast:
49	chr11:17804443..17806483-chr11:17873609..17875464,2	K562	blood:
50	chr11:17769238..17771607-chr11:17779598..17782123,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOD1-2	chr11:17795943-17799369	NONHSAT018246
2	lnc-SERGEF-1	chr11:17809595-17809960	NONHSAT018248
3	lnc-SERGEF-1	chr11:17809599-17809960	NONHSAT018251
4	lnc-SERGEF-1	chr11:17809595-17809960	NONHSAT018250
5	lnc-SERGEF-1	chr11:17809595-17809960	NONHSAT018249

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KCNC1	hsa-miR-335-5p	chr11:17803647-17803670

Variant related genes	Relation type
KCNC1	TF binding region
KCNC1	CpG island
ENSG00000129159	chromatin interactions

Extended variants
information (count: 2003 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2003 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7926805	chr11:17758587-17758588	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113065565	chr11:17758592-17758593	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527588961	chr11:17758593-17758594	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552161191	chr11:17758594-17758595	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570642786	chr11:17758605-17758606	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537630143	chr11:17758633-17758634	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141263706	chr11:17758790-17758791	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569008437	chr11:17758791-17758792	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536287164	chr11:17758820-17758821	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554552215	chr11:17758839-17758840	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373327460	chr11:17758879-17758880	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577924563	chr11:17758881-17758882	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186313038	chr11:17758901-17758902	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190808441	chr11:17758911-17758912	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11605225	chr11:17758926-17758927	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577399750	chr11:17758935-17758936	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183036191	chr11:17758940-17758941	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556338740	chr11:17758952-17758953	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574597811	chr11:17758972-17758973	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11605245	chr11:17759010-17759011	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs150848861	chr11:17759033-17759034	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs557352667	chr11:17759089-17759090	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs560213939	chr11:17759136-17759137	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs527259520	chr11:17759167-17759168	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs575913188	chr11:17759168-17759169	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs60835408	chr11:17759196-17759197	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10832854	chr11:17759205-17759206	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139332495	chr11:17759219-17759220	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs149978563	chr11:17759299-17759300	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs374715685	chr11:17759353-17759354	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs530135502	chr11:17759354-17759355	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs145214424	chr11:17759430-17759431	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs115256492	chr11:17759453-17759454	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs77937368	chr11:17759476-17759477	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs398075750	chr11:17759477-17759478	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs553480937	chr11:17759554-17759555	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs376519009	chr11:17759573-17759574	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs571051581	chr11:17759584-17759585	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs143851478	chr11:17759618-17759619	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556801856	chr11:17759730-17759731	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573515208	chr11:17759789-17759790	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146880867	chr11:17759804-17759805	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370546777	chr11:17759815-17759816	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541964481	chr11:17759896-17759897	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530042983	chr11:17759932-17759933	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140657935	chr11:17760038-17760039	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs143788414	chr11:17760050-17760051	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs367882419	chr11:17760089-17760090	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs368192818	chr11:17760107-17760108	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs560209059	chr11:17760158-17760159	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17755800-17761200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
2	chr11:17756000-17758800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:17757000-17759800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
4	chr11:17757000-17771800	Weak transcription	Right Atrium	heart
5	chr11:17757200-17759000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:17757200-17760800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr11:17757400-17759000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
8	chr11:17757600-17759600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
9	chr11:17757600-17760400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
10	chr11:17757600-17761200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:17757600-17761400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:17757600-17761600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:17757800-17760800	Flanking Active TSS	Fetal Brain Female	brain
14	chr11:17757800-17762000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr11:17758000-17758600	Bivalent Enhancer	Right Ventricle	heart
16	chr11:17758000-17759600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:17758000-17760200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:17758000-17761000	Weak transcription	Pancreas	Pancrea
19	chr11:17758200-17758600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:17758200-17758600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
21	chr11:17758200-17759600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
22	chr11:17758400-17759000	Active TSS	Gastric	stomach
23	chr11:17758400-17760000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
24	chr11:17758400-17760600	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr11:17758600-17758800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:17758600-17759000	Flanking Active TSS	Fetal Brain Male	brain
27	chr11:17758600-17759000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
28	chr11:17758800-17759200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr11:17758800-17759600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr11:17758800-17760400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:17758800-17761200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:17759000-17759200	Weak transcription	Gastric	stomach
33	chr11:17759000-17759400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:17759000-17759800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr11:17759000-17760200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr11:17759000-17760200	Enhancers	Fetal Brain Male	brain
37	chr11:17759000-17761000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
38	chr11:17759000-17761000	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr11:17759200-17759400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
40	chr11:17759200-17759400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
41	chr11:17759200-17760600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:17759200-17760800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr11:17759200-17761200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:17759400-17759800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
45	chr11:17759400-17760600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:17759600-17759800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:17759600-17760200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
48	chr11:17759600-17761400	Active TSS	Brain Anterior Caudate	brain
49	chr11:17759600-17761600	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr11:17759800-17760000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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