Variant report

Variant	esv3330993
Chromosome Location	chr11:77183854-77186152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:77185329-77185566	HepG2	liver:	n/a	n/a
2	ATF1	chr11:77184998-77186000	K562	blood:	n/a	chr11:77185391-77185405 chr11:77185443-77185457
3	ATF2	chr11:77185134-77185828	H1-hESC	embryonic stem cell:	n/a	chr11:77185391-77185405 chr11:77185443-77185457
4	ATF2	chr11:77185213-77185769	GM12878	blood:	n/a	chr11:77185391-77185405 chr11:77185443-77185457
5	ATF2	chr11:77185230-77185826	H1-hESC	embryonic stem cell:	n/a	chr11:77185391-77185405 chr11:77185443-77185457
6	ATF2	chr11:77184874-77185768	GM12878	blood:	n/a	chr11:77185391-77185405 chr11:77185443-77185457
7	ATF3	chr11:77185290-77185620	H1-hESC	embryonic stem cell:	n/a	chr11:77185321-77185330 chr11:77185443-77185458 chr11:77185445-77185456 chr11:77185447-77185457 chr11:77185446-77185466 chr11:77185394-77185414 chr11:77185445-77185456 chr11:77185392-77185405 chr11:77185447-77185457 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185446-77185454 chr11:77185447-77185455 chr11:77185295-77185304 chr11:77185444-77185457 chr11:77185392-77185405 chr11:77185391-77185406 chr11:77185444-77185457 chr11:77185447-77185458 chr11:77185446-77185457 chr11:77185395-77185405 chr11:77185447-77185454 chr11:77185395-77185403
8	ATF3	chr11:77185237-77185581	K562	blood:	n/a	chr11:77185321-77185330 chr11:77185443-77185458 chr11:77185445-77185456 chr11:77185447-77185457 chr11:77185446-77185466 chr11:77185394-77185414 chr11:77185445-77185456 chr11:77185392-77185405 chr11:77185447-77185457 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185446-77185454 chr11:77185447-77185455 chr11:77185295-77185304 chr11:77185444-77185457 chr11:77185392-77185405 chr11:77185391-77185406 chr11:77185444-77185457 chr11:77185447-77185458 chr11:77185446-77185457 chr11:77185395-77185405 chr11:77185447-77185454 chr11:77185395-77185403
9	ATF3	chr11:77185172-77185591	A549	lung:	n/a	chr11:77185321-77185330 chr11:77185443-77185458 chr11:77185445-77185456 chr11:77185447-77185457 chr11:77185446-77185466 chr11:77185394-77185414 chr11:77185445-77185456 chr11:77185392-77185405 chr11:77185447-77185457 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185446-77185454 chr11:77185447-77185455 chr11:77185295-77185304 chr11:77185444-77185457 chr11:77185392-77185405 chr11:77185391-77185406 chr11:77185444-77185457 chr11:77185447-77185458 chr11:77185446-77185457 chr11:77185395-77185405 chr11:77185447-77185454 chr11:77185395-77185403
10	ATF3	chr11:77185231-77185664	K562	blood:	n/a	chr11:77185321-77185330 chr11:77185443-77185458 chr11:77185445-77185456 chr11:77185447-77185457 chr11:77185446-77185466 chr11:77185394-77185414 chr11:77185445-77185456 chr11:77185392-77185405 chr11:77185447-77185457 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185446-77185454 chr11:77185447-77185455 chr11:77185295-77185304 chr11:77185444-77185457 chr11:77185392-77185405 chr11:77185391-77185406 chr11:77185444-77185457 chr11:77185447-77185458 chr11:77185446-77185457 chr11:77185395-77185405 chr11:77185447-77185454 chr11:77185395-77185403
11	ATF3	chr11:77185259-77185667	H1-hESC	embryonic stem cell:	n/a	chr11:77185321-77185330 chr11:77185443-77185458 chr11:77185445-77185456 chr11:77185447-77185457 chr11:77185446-77185466 chr11:77185394-77185414 chr11:77185445-77185456 chr11:77185392-77185405 chr11:77185447-77185457 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185446-77185454 chr11:77185447-77185455 chr11:77185295-77185304 chr11:77185444-77185457 chr11:77185392-77185405 chr11:77185391-77185406 chr11:77185444-77185457 chr11:77185447-77185458 chr11:77185446-77185457 chr11:77185395-77185405 chr11:77185447-77185454 chr11:77185395-77185403
12	BACH1	chr11:77184533-77185487	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr11:77185278-77185553	GM12878	blood:	n/a	chr11:77185392-77185405 chr11:77185444-77185457
14	BATF	chr11:77185269-77185599	GM12878	blood:	n/a	chr11:77185392-77185405 chr11:77185444-77185457
15	BCL11A	chr11:77185234-77185605	GM12878	blood:	n/a	chr11:77185263-77185276 chr11:77185265-77185278 chr11:77185272-77185285 chr11:77185582-77185591 chr11:77185260-77185273 chr11:77185261-77185270 chr11:77185266-77185279 chr11:77185264-77185273 chr11:77185259-77185272 chr11:77185258-77185267
16	BCL3	chr11:77185168-77185728	A549	lung:	n/a	chr11:77185263-77185276 chr11:77185265-77185278 chr11:77185272-77185285 chr11:77185582-77185591 chr11:77185260-77185273 chr11:77185261-77185270 chr11:77185266-77185279 chr11:77185264-77185273 chr11:77185259-77185272 chr11:77185258-77185267
17	BCLAF1	chr11:77185280-77185690	GM12878	blood:	n/a	chr11:77185582-77185591
18	BCLAF1	chr11:77185225-77185712	GM12878	blood:	n/a	chr11:77185263-77185276 chr11:77185265-77185278 chr11:77185272-77185285 chr11:77185582-77185591 chr11:77185260-77185273 chr11:77185261-77185270 chr11:77185266-77185279 chr11:77185264-77185273 chr11:77185259-77185272 chr11:77185258-77185267
19	BHLHE40	chr11:77185249-77185900	HepG2	liver:	n/a	chr11:77185260-77185276 chr11:77185263-77185279 chr11:77185262-77185278
20	BHLHE40	chr11:77184499-77185801	GM12878	blood:	n/a	chr11:77185260-77185276 chr11:77185263-77185279 chr11:77185262-77185278 chr11:77185082-77185098 chr11:77185090-77185106 chr11:77184711-77184727 chr11:77184708-77184724
21	BHLHE40	chr11:77184936-77185693	K562	blood:	n/a	chr11:77185260-77185276 chr11:77185263-77185279 chr11:77185262-77185278 chr11:77185082-77185098 chr11:77185090-77185106
22	BRCA1	chr11:77185248-77185637	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr11:77184997-77185045	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr11:77185278-77185586	HepG2	liver:	n/a	n/a
25	BRCA1	chr11:77185296-77185590	GM12878	blood:	n/a	n/a
26	BRCA1	chr11:77185213-77185597	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr11:77183844-77184124	H1-hESC	embryonic stem cell:	n/a	n/a
28	CBX3	chr11:77185243-77185604	K562	blood:	n/a	n/a
29	CBX3	chr11:77184808-77185836	K562	blood:	n/a	n/a
30	CCNT2	chr11:77184956-77185596	K562	blood:	n/a	chr11:77185321-77185330
31	CEBPB	chr11:77185039-77186061	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr11:77185226-77185974	K562	blood:	n/a	n/a
33	CEBPB	chr11:77185225-77186103	A549	lung:	n/a	n/a
34	CEBPB	chr11:77185292-77185537	K562	blood:	n/a	n/a
35	CEBPB	chr11:77185213-77186028	IMR90	lung:	n/a	n/a
36	CEBPB	chr11:77185298-77185660	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr11:77185240-77185661	MCF-7	breast:	n/a	n/a
38	CEBPB	chr11:77185247-77185712	A549	lung:	n/a	n/a
39	CEBPB	chr11:77185201-77185935	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr11:77185790-77185947	HepG2	liver:	n/a	n/a
41	CEBPB	chr11:77185224-77186054	HepG2	liver:	n/a	n/a
42	CEBPB	chr11:77185184-77185598	K562	blood:	n/a	n/a
43	CEBPB	chr11:77184943-77185588	HepG2	liver:	n/a	n/a
44	CEBPD	chr11:77185217-77185550	HepG2	liver:	n/a	n/a
45	CHD1	chr11:77183764-77184330	H1-hESC	embryonic stem cell:	n/a	chr11:77184317-77184327
46	CHD1	chr11:77185378-77185870	GM12878	blood:	n/a	n/a
47	CHD1	chr11:77184844-77185116	GM12878	blood:	n/a	n/a
48	CHD2	chr11:77184862-77185657	H1-hESC	embryonic stem cell:	n/a	chr11:77185322-77185332
49	CHD2	chr11:77184530-77185815	GM12878	blood:	n/a	chr11:77185322-77185332
50	CHD2	chr11:77184945-77185690	Hela-S3	cervix:	n/a	chr11:77185322-77185332

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:77185127-77185177	NH-A	brain:	n/a
2	chr11:77185492-77185542	IMR90	lung:	fetal
3	chr11:77185354-77185404	GM12892	blood:	n/a
4	chr11:77185398-77185448	HIPEpiC	eye:	n/a
5	chr11:77185492-77185542	HMEC	breast:	n/a
6	chr11:77185492-77185542	GM12878	blood:	n/a
7	chr11:77185398-77185448	HCM	heart:	n/a
8	chr11:77183807-77183857	GM06990	blood:	n/a
9	chr11:77185492-77185542	MCF-7	breast:	n/a
10	chr11:77185129-77185179	NHBE	bronchial:	n/a
11	chr11:77185129-77185179	A549	lung:	n/a
12	chr11:77185492-77185542	H1-hESC	embryonic stem cell:	embryo
13	chr11:77183807-77183857	NT2-D1	testis:	n/a
14	chr11:77185670-77185720	HL-60	blood:	n/a
15	chr11:77185492-77185542	AG09309	skin:	n/a
16	chr11:77185670-77185720	ProgFib	skin:	n/a
17	chr11:77184925-77184975	SK-N-SH	brain:	n/a
18	chr11:77185492-77185542	HNPCEpiC	eye:	n/a
19	chr11:77185127-77185177	HCM	heart:	n/a
20	chr11:77184925-77184975	HAEpiC	amniotic membrane:	n/a
21	chr11:77185129-77185179	BJ	skin:	n/a
22	chr11:77184194-77184244	AoSMC	blood vessel:	n/a
23	chr11:77185127-77185177	GM12891	blood:	n/a
24	chr11:77183807-77183857	AG10803	skin:	n/a
25	chr11:77184194-77184244	PFSK-1	brain:	n/a
26	chr11:77183807-77183857	NHDF-neo	bronchial:	n/a
27	chr11:77185129-77185179	U87	brain:	n/a
28	chr11:77185129-77185179	NH-A	brain:	n/a
29	chr11:77185670-77185720	Hepatocyte	liver:	n/a
30	chr11:77185670-77185720	MCF10A-Er-Src	breast:	n/a
31	chr11:77184925-77184975	NT2-D1	testis:	n/a
32	chr11:77184925-77184975	GM12878	blood:	n/a
33	chr11:77184194-77184244	GM06990	blood:	n/a
34	chr11:77184194-77184244	HL-60	blood:	n/a
35	chr11:77185492-77185542	Hela-S3	cervix:	n/a
36	chr11:77185129-77185179	HRPEpiC	eye:	n/a
37	chr11:77185670-77185720	NHDF-neo	bronchial:	n/a
38	chr11:77184925-77184975	NHDF-neo	bronchial:	n/a
39	chr11:77185129-77185179	HepG2	liver:	n/a
40	chr11:77185670-77185720	NT2-D1	testis:	n/a
41	chr11:77185129-77185179	AoSMC	blood vessel:	n/a
42	chr11:77185670-77185720	Caco-2	colon:	n/a
43	chr11:77185670-77185720	HNPCEpiC	eye:	n/a
44	chr11:77183807-77183857	HMEC	breast:	n/a
45	chr11:77184194-77184244	ovcar-3	ovarian:	n/a
46	chr11:77185354-77185404	NT2-D1	testis:	n/a
47	chr11:77185129-77185179	LNCaP	prostate:	n/a
48	chr11:77185129-77185179	MCF10A-Er-Src	breast:	n/a
49	chr11:77185129-77185179	AG04449	skin:	fetal
50	chr11:77184194-77184244	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:77182864..77185465-chr2:149892800..149895583,2	MCF-7	breast:
2	chr11:77172481..77174902-chr11:77181213..77184183,2	MCF-7	breast:
3	chr11:77120907..77124363-chr11:77182142..77186268,4	MCF-7	breast:
4	chr11:77184637..77185143-chr11:77330427..77330941,2	MCF-7	breast:
5	chr11:77184882..77185407-chr2:10587988..10588765,2	HCT-116	colon:
6	chr11:77161236..77163004-chr11:77181635..77184038,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAK1-1	chr11:77185455-77185714	XLOC_009510
2	lnc-AQP11-4	chr11:77184416-77188075	NONHSAT023216
3	lnc-PAK1-1	chr11:77186081-77186106	XLOC_009510

Variant related genes	Relation type
PAK1	TF binding region
ENSG00000268635	TF binding region
PAK1	CpG island
ENSG00000268635	CpG island
ENSG00000115758	chromatin interactions
ENSG00000149269	chromatin interactions
ENSG00000150556	chromatin interactions
ENSG00000074201	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557446496	chr11:77183878-77183879	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs11412566	chr11:77183898-77183899	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs112921442	chr11:77183900-77183901	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs397793464	chr11:77183901-77183902	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs200222577	chr11:77183902-77183903	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs35375993	chr11:77183929-77183930	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs567515428	chr11:77184094-77184095	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs183936229	chr11:77184101-77184102	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs547976932	chr11:77184105-77184106	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs188125315	chr11:77184115-77184116	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs139892613	chr11:77184151-77184152	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs143385504	chr11:77184255-77184256	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs73496888	chr11:77184259-77184260	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs575816862	chr11:77184271-77184272	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs543925256	chr11:77184296-77184297	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs561047731	chr11:77184358-77184359	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs529791341	chr11:77184359-77184360	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs146745630	chr11:77184402-77184403	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs560217761	chr11:77184419-77184420	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs532430309	chr11:77184502-77184503	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs552512708	chr11:77184568-77184569	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs115790932	chr11:77184658-77184659	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs531546166	chr11:77184701-77184702	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs548128499	chr11:77184760-77184761	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs567748037	chr11:77184784-77184785	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs536377553	chr11:77184814-77184815	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
27	rs376549709	chr11:77184816-77184817	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs552935083	chr11:77184908-77184909	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
29	rs181932001	chr11:77184992-77184993	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
30	rs538918868	chr11:77185012-77185013	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
31	rs558827184	chr11:77185048-77185049	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
32	rs575708835	chr11:77185059-77185060	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
33	rs201320574	chr11:77185088-77185089	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
34	rs544781814	chr11:77185102-77185103	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
35	rs554910700	chr11:77185117-77185118	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
36	rs574450550	chr11:77185133-77185134	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
37	rs374279196	chr11:77185209-77185210	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs540363330	chr11:77185232-77185233	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs560153642	chr11:77185235-77185236	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs200545041	chr11:77185247-77185248	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs547403363	chr11:77185260-77185261	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs532163774	chr11:77185283-77185284	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs546070382	chr11:77185338-77185339	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs570692150	chr11:77185368-77185369	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs562795348	chr11:77185377-77185378	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs531557284	chr11:77185378-77185379	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs116524464	chr11:77185383-77185384	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs368713851	chr11:77185409-77185410	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs372935292	chr11:77185426-77185427	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs568199508	chr11:77185443-77185444	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77181000-77184200	Enhancers	Dnd41	blood
2	chr11:77181200-77184000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:77181400-77184000	Enhancers	Brain Substantia Nigra	brain
4	chr11:77182000-77184000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:77182200-77184000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:77182400-77184000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:77182400-77184000	Weak transcription	Small Intestine	intestine
8	chr11:77182600-77184000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr11:77182800-77184000	Weak transcription	Esophagus	oesophagus
10	chr11:77182800-77184000	Weak transcription	Psoas Muscle	Psoas
11	chr11:77182800-77185400	Active TSS	Colonic Mucosa	Colon
12	chr11:77183200-77184600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:77183200-77185600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:77183200-77186000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr11:77183400-77184000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:77183400-77184000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:77183400-77184000	Flanking Active TSS	NHEK	skin
18	chr11:77183400-77184200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr11:77183400-77184200	Flanking Active TSS	Fetal Brain Female	brain
20	chr11:77183400-77185400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:77183400-77185400	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr11:77183400-77185400	Active TSS	Rectal Smooth Muscle	rectum
23	chr11:77183400-77185600	Active TSS	Fetal Stomach	stomach
24	chr11:77183400-77185800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:77183400-77185800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:77183400-77185800	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr11:77183400-77186000	Active TSS	Brain Hippocampus Middle	brain
28	chr11:77183400-77186000	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr11:77183400-77186200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:77183600-77184000	Enhancers	Colon Smooth Muscle	Colon
31	chr11:77183600-77184200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:77183600-77184200	Active TSS	Placenta	Placenta
33	chr11:77183600-77184200	Flanking Active TSS	HMEC	breast
34	chr11:77183600-77185400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:77183600-77185400	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr11:77183600-77185800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr11:77183600-77185800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:77183600-77185800	Active TSS	Ovary	ovary
39	chr11:77183600-77186000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:77183600-77186000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:77183600-77186000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:77183600-77186000	Active TSS	Brain Germinal Matrix	brain
43	chr11:77183600-77186000	Active TSS	Fetal Brain Male	brain
44	chr11:77183600-77186000	Active TSS	Pancreas	Pancrea
45	chr11:77183600-77186200	Active TSS	Duodenum Mucosa	Duodenum
46	chr11:77183600-77186400	Active TSS	Fetal Kidney	kidney
47	chr11:77183800-77184000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:77183800-77184000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:77183800-77184000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:77183800-77184000	Active TSS	Primary B cells from cord blood	blood

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