Variant report

Variant	esv3392871
Chromosome Location	chr11:64013201-64015749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:837)
CpG islands
(count:610)
Chromatin interactive
region (count:31)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:837 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:64013328-64013472	K562	blood:	n/a	n/a
2	ARID3A	chr11:64015633-64015635	K562	blood:	n/a	n/a
3	ATF2	chr11:64013121-64013695	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr11:64014366-64014903	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr11:64013123-64013563	K562	blood:	n/a	n/a
6	ATF3	chr11:64013134-64013699	A549	lung:	n/a	n/a
7	ATF3	chr11:64013274-64013500	K562	blood:	n/a	n/a
8	ATF3	chr11:64013093-64013611	A549	lung:	n/a	n/a
9	BACH1	chr11:64013411-64013540	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr11:64013267-64013506	GM12878	blood:	n/a	n/a
11	BCL3	chr11:64012312-64013922	A549	lung:	n/a	chr11:64013569-64013582 chr11:64013147-64013155 chr11:64013495-64013508
12	BCL3	chr11:64014369-64015117	A549	lung:	n/a	chr11:64015040-64015049 chr11:64015031-64015044 chr11:64014422-64014431 chr11:64014369-64014382 chr11:64014861-64014869
13	BCL3	chr11:64012561-64013718	A549	lung:	n/a	chr11:64013569-64013582 chr11:64013147-64013155 chr11:64013495-64013508
14	BCLAF1	chr11:64014504-64015253	K562	blood:	n/a	chr11:64015040-64015049 chr11:64015031-64015044 chr11:64014861-64014869
15	BCLAF1	chr11:64014766-64015155	GM12878	blood:	n/a	chr11:64015040-64015049 chr11:64015031-64015044 chr11:64014861-64014869
16	BCLAF1	chr11:64012878-64013417	GM12878	blood:	n/a	chr11:64013147-64013155
17	BHLHE40	chr11:64014633-64015198	K562	blood:	n/a	chr11:64015031-64015047
18	BHLHE40	chr11:64014012-64014186	GM12878	blood:	n/a	n/a
19	BHLHE40	chr11:64013245-64013632	K562	blood:	n/a	n/a
20	BHLHE40	chr11:64014541-64015188	GM12878	blood:	n/a	chr11:64015031-64015047
21	BRCA1	chr11:64015162-64015189	HepG2	liver:	n/a	n/a
22	BRCA1	chr11:64014556-64015063	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr11:64013148-64013556	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr11:64014502-64014731	H1-hESC	embryonic stem cell:	n/a	n/a
25	CBX3	chr11:64014291-64015234	K562	blood:	n/a	n/a
26	CBX3	chr11:64013220-64013638	K562	blood:	n/a	n/a
27	CBX3	chr11:64014560-64014997	K562	blood:	n/a	n/a
28	CCNT2	chr11:64013221-64013636	K562	blood:	n/a	n/a
29	CCNT2	chr11:64014736-64015350	K562	blood:	n/a	chr11:64014924-64014933 chr11:64015046-64015055
30	CCNT2	chr11:64014168-64014175	K562	blood:	n/a	n/a
31	CEBPB	chr11:64015558-64015559	K562	blood:	n/a	n/a
32	CEBPB	chr11:64013267-64013640	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr11:64014892-64015092	Hela-S3	cervix:	n/a	n/a
34	CEBPD	chr11:64013528-64013835	HepG2	liver:	n/a	n/a
35	CHD1	chr11:64013490-64013688	GM12878	blood:	n/a	n/a
36	CHD1	chr11:64012569-64014208	IMR90	lung:	n/a	chr11:64012950-64012960
37	CHD2	chr11:64014707-64015232	GM12878	blood:	n/a	n/a
38	CHD2	chr11:64013388-64013700	K562	blood:	n/a	n/a
39	CHD2	chr11:64014517-64015154	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr11:64012918-64013870	Hela-S3	cervix:	n/a	chr11:64012950-64012960
41	CHD2	chr11:64014532-64015247	K562	blood:	n/a	n/a
42	CHD2	chr11:64014652-64015202	HepG2	liver:	n/a	n/a
43	CHD2	chr11:64013286-64013614	HepG2	liver:	n/a	n/a
44	CHD2	chr11:64012980-64013838	GM12878	blood:	n/a	n/a
45	CHD2	chr11:64014305-64015231	Hela-S3	cervix:	n/a	chr11:64014327-64014337
46	CREB1	chr11:64013921-64014597	A549	lung:	n/a	n/a
47	CREB1	chr11:64013228-64013740	A549	lung:	n/a	n/a
48	CREB1	chr11:64014676-64015212	A549	lung:	n/a	n/a
49	CTCF	chr11:64014260-64014410	GM12875	blood:	n/a	chr11:64014331-64014344
50	CTCF	chr11:64014880-64015030	HepG2	liver:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64013837-64013887	HCPEpiC	choroid plexus:	n/a
2	chr11:64015574-64015624	Hepatocyte	liver:	n/a
3	chr11:64013991-64014041	NT2-D1	testis:	n/a
4	chr11:64014598-64014648	SK-N-SH_RA	brain:	n/a
5	chr11:64014871-64014921	SAEC	small airway:	n/a
6	chr11:64014598-64014648	HIPEpiC	eye:	n/a
7	chr11:64014518-64014568	HRPEpiC	eye:	n/a
8	chr11:64015289-64015339	NHBE	bronchial:	n/a
9	chr11:64014598-64014648	HL-60	blood:	n/a
10	chr11:64015574-64015624	HCM	heart:	n/a
11	chr11:64014518-64014568	LNCaP	prostate:	n/a
12	chr11:64015289-64015339	HRPEpiC	eye:	n/a
13	chr11:64015574-64015624	PANC-1	pancreas:	n/a
14	chr11:64014589-64014639	AG09309	skin:	n/a
15	chr11:64014554-64014604	HRCEpiC	kidney:	n/a
16	chr11:64014541-64014591	NT2-D1	testis:	n/a
17	chr11:64014589-64014639	HRCEpiC	kidney:	n/a
18	chr11:64013991-64014041	Jurkat	blood:	n/a
19	chr11:64014518-64014568	IMR90	lung:	fetal
20	chr11:64014518-64014568	HRE	kidney:	n/a
21	chr11:64015289-64015339	ECC-1	luminal epithelium:	n/a
22	chr11:64014598-64014648	MCF10A-Er-Src	breast:	n/a
23	chr11:64014518-64014568	HCM	heart:	n/a
24	chr11:64014871-64014921	BE2_C	brain:	n/a
25	chr11:64013991-64014041	NHDF-neo	bronchial:	n/a
26	chr11:64015574-64015624	H1-hESC	embryonic stem cell:	embryo
27	chr11:64014518-64014568	HAEpiC	amniotic membrane:	n/a
28	chr11:64013991-64014041	GM12891	blood:	n/a
29	chr11:64014598-64014648	AG04449	skin:	fetal
30	chr11:64015574-64015624	HCPEpiC	choroid plexus:	n/a
31	chr11:64015574-64015624	Hela-S3	cervix:	n/a
32	chr11:64015289-64015339	U87	brain:	n/a
33	chr11:64014554-64014604	RPTEC	kidney:	n/a
34	chr11:64014871-64014921	AG10803	skin:	n/a
35	chr11:64014518-64014568	Hela-S3	cervix:	n/a
36	chr11:64014598-64014648	BJ	skin:	n/a
37	chr11:64015289-64015339	HUVEC	blood vessel:	n/a
38	chr11:64014518-64014568	HEK293	kidney:	embryo
39	chr11:64015289-64015339	AG04450	lung:	fetal
40	chr11:64013837-64013887	NB4	blood:	n/a
41	chr11:64015574-64015624	PrEC	prostate:	n/a
42	chr11:64014871-64014921	GM12891	blood:	n/a
43	chr11:64014554-64014604	LNCaP	prostate:	n/a
44	chr11:64014541-64014591	U87	brain:	n/a
45	chr11:64014541-64014591	RPTEC	kidney:	n/a
46	chr11:64014589-64014639	HCPEpiC	choroid plexus:	n/a
47	chr11:64014518-64014568	T-47D	breast:	n/a
48	chr11:64014589-64014639	ECC-1	luminal epithelium:	n/a
49	chr11:64015289-64015339	PFSK-1	brain:	n/a
50	chr11:64015289-64015339	HIPEpiC	eye:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64013671..64014437-chrX:47092332..47093146,2	Hela-S3	cervix:
2	chr11:64012920..64014834-chr17:54968329..54970844,2	MCF-7	breast:
3	chr11:64012378..64014719-chr11:64084381..64087113,3	K562	blood:
4	chr11:64013219..64015249-chr11:64126039..64128658,2	K562	blood:
5	chr11:64012924..64015359-chr11:64050536..64054535,6	MCF-7	breast:
6	chr11:64014642..64016649-chr11:64400949..64403131,2	MCF-7	breast:
7	chr11:64014325..64014848-chr19:59070528..59071297,2	NB4	blood:
8	chr11:64013049..64014994-chr11:64052537..64054255,3	MCF-7	breast:
9	chr11:64011010..64014787-chr11:64081606..64086263,4	MCF-7	breast:
10	chr11:63951371..63956321-chr11:64011600..64016157,10	MCF-7	breast:
11	chr11:64013817..64015911-chr11:64878839..64880760,2	MCF-7	breast:
12	chr11:63962304..63965510-chr11:64012798..64015195,3	MCF-7	breast:
13	chr11:64011811..64014800-chr11:64054845..64057591,2	MCF-7	breast:
14	chr11:62554646..62556730-chr11:64013046..64014548,2	MCF-7	breast:
15	chr11:64013373..64015770-chr11:64059905..64062431,2	MCF-7	breast:
16	chr11:64012590..64014829-chr11:64057902..64059525,2	MCF-7	breast:
17	chr11:64013360..64015283-chr11:64125680..64128243,2	MCF-7	breast:
18	chr11:62607062..62609117-chr11:64013119..64014953,2	MCF-7	breast:
19	chr11:64012978..64013548-chr19:39926002..39926585,2	Hela-S3	cervix:
20	chr11:64012363..64015118-chr11:64095317..64097895,3	MCF-7	breast:
21	chr11:64013225..64015116-chr11:64056938..64059333,2	MCF-7	breast:
22	chr11:64003628..64022712-chr11:64064086..64078429,56	MCF-7	breast:
23	chr11:63930168..63934783-chr11:64013330..64015860,5	MCF-7	breast:
24	chr11:64013318..64016582-chr11:64121712..64124866,3	MCF-7	breast:
25	chr11:64014885..64017161-chr11:64083467..64086762,3	K562	blood:
26	chr11:64014386..64015077-chr16:31191101..31191993,2	Hela-S3	cervix:
27	chr11:64014835..64015447-chr17:79268805..79269365,2	HCT-116	colon:
28	chr11:64012813..64019826-chr11:64070484..64074683,9	MCF-7	breast:
29	chr11:64012324..64016807-chr11:64110478..64112580,4	MCF-7	breast:
30	chr11:64013621..64014200-chr16:3018902..3019600,2	Hela-S3	cervix:
31	chr11:64013769..64016116-chr11:64064254..64066876,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R14B-1	chr11:64015522-64015644	ENSG00000257086.1
2	lnc-FKBP2-1	chr11:64015425-64015689	ENSG00000256940.1
3	lnc-PPP1R14B-1	chr11:64014411-64014831	ENSG00000257086.1
4	lnc-FKBP2-1	chr11:64013436-64013561	ENSG00000256940.1
5	lnc-FKBP2-1	chr11:64015425-64015649	ENSG00000256940.1
6	lnc-FKBP2-1	chr11:64014526-64014731	ENSG00000256940.1

No data

Variant related genes	Relation type
PPP1R14B	TF binding region
PLCB3	TF binding region
ENSG00000256940	TF binding region
PPP1R14B	CpG island
PLCB3	CpG island
ENSG00000256940	CpG island
ENSG00000162073	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000219435	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000236935	chromatin interactions
ENSG00000265238	chromatin interactions
ENSG00000157637	chromatin interactions
ENSG00000173113	chromatin interactions
ENSG00000162302	chromatin interactions
ENSG00000126432	chromatin interactions
ENSG00000182450	chromatin interactions
ENSG00000173264	chromatin interactions
ENSG00000254501	chromatin interactions
ENSG00000127564	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000133315	chromatin interactions
ENSG00000102226	chromatin interactions
ENSG00000002330	chromatin interactions
ENSG00000168071	chromatin interactions
ENSG00000185475	chromatin interactions
ENSG00000257069	chromatin interactions
ENSG00000267858	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000121060	chromatin interactions
ENSG00000149809	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573012698	chr11:64013240-64013241	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
2	rs541940058	chr11:64013286-64013287	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
3	rs555573154	chr11:64013333-64013334	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
4	rs575368333	chr11:64013403-64013404	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
5	rs11605738	chr11:64013406-64013407	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs190410177	chr11:64013409-64013410	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
7	rs533214223	chr11:64013413-64013414	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
8	rs545834506	chr11:64013431-64013432	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
9	rs566541367	chr11:64013461-64013462	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
10	rs559319863	chr11:64013549-64013550	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
11	rs199514276	chr11:64013570-64013571	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
12	rs528592556	chr11:64013615-64013616	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
13	rs568646861	chr11:64013626-64013627	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
14	rs548261428	chr11:64013629-64013630	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
15	rs568506949	chr11:64013639-64013640	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
16	rs111755709	chr11:64013663-64013664	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
17	rs531032667	chr11:64013734-64013735	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
18	rs551105927	chr11:64013794-64013795	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
19	rs571064093	chr11:64013813-64013814	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
20	rs374348645	chr11:64013837-64013838	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
21	rs377746122	chr11:64013853-64013854	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
22	rs554589476	chr11:64013858-64013859	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
23	rs370834648	chr11:64013863-64013864	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
24	rs375211150	chr11:64013877-64013878	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
25	rs368488305	chr11:64013881-64013882	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
26	rs544229737	chr11:64013883-64013884	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
27	rs140868541	chr11:64013921-64013922	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
28	rs145808325	chr11:64013930-64013931	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
29	rs566450771	chr11:64013984-64013985	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
30	rs12787613	chr11:64013996-64013997	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
31	rs199783916	chr11:64013999-64014000	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
32	rs1052602	chr11:64014011-64014012	Active TSS Enhancers Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
33	rs370735641	chr11:64014015-64014016	Active TSS Enhancers Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
34	rs1063811	chr11:64014017-64014018	Active TSS Enhancers Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
35	rs3209605	chr11:64014043-64014044	Active TSS Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
36	rs555194677	chr11:64014051-64014052	Active TSS Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
37	rs575254819	chr11:64014059-64014060	Active TSS Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
38	rs1052481	chr11:64014089-64014090	Active TSS Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
39	rs34381143	chr11:64014200-64014201	Active TSS Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
40	rs34306162	chr11:64014237-64014238	Active TSS Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
41	rs12788439	chr11:64014386-64014387	Active TSS Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
42	rs375482425	chr11:64014429-64014430	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
43	rs12788479	chr11:64014445-64014446	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
44	rs544087836	chr11:64014488-64014489	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
45	rs557924903	chr11:64014493-64014494	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
46	rs577562802	chr11:64014498-64014499	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
47	rs540115799	chr11:64014513-64014514	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
48	rs559356034	chr11:64014519-64014520	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
49	rs373815598	chr11:64014525-64014526	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
50	rs12284186	chr11:64014707-64014708	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Pituitary adenoma	18645599	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	21785460	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
Prostate cancer	18779856	CNVD
Cancer	17160897	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

Chromatin state (count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64010000-64013600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:64010600-64013800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:64011800-64015800	Active TSS	HSMMtube	muscle
4	chr11:64012000-64015600	Active TSS	HSMM	muscle
5	chr11:64012200-64013400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:64012200-64013800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr11:64012400-64013400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:64012400-64013400	Flanking Active TSS	Fetal Intestine Large	intestine
9	chr11:64012400-64013400	Transcr. at gene 5' and 3'	K562	blood
10	chr11:64012400-64013600	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr11:64012400-64013600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr11:64012400-64013600	Flanking Active TSS	Thymus	Thymus
13	chr11:64012400-64013600	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr11:64012400-64013800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:64012400-64013800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:64012400-64013800	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr11:64012400-64013800	Transcr. at gene 5' and 3'	A549	lung
18	chr11:64012400-64014000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:64012600-64013400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:64012600-64013400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr11:64012600-64013400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:64012600-64013400	Enhancers	Fetal Heart	heart
23	chr11:64012600-64013400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr11:64012600-64013400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr11:64012600-64013600	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:64012600-64013600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:64012600-64013600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr11:64012600-64013600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:64012600-64013600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:64012600-64013600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
31	chr11:64012600-64013800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr11:64012600-64013800	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr11:64012600-64013800	Flanking Active TSS	Colonic Mucosa	Colon
34	chr11:64012600-64013800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr11:64012600-64013800	Flanking Active TSS	Placenta	Placenta
36	chr11:64012600-64014000	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr11:64012600-64014000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr11:64012600-64014400	Active TSS	GM12878-XiMat	blood
39	chr11:64012600-64015200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:64012600-64015200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:64012600-64015400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr11:64012600-64015400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr11:64012600-64015600	Active TSS	H9 Cell Line	embryonic stem cell
44	chr11:64012800-64013400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr11:64012800-64013400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:64012800-64013400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:64012800-64013400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr11:64012800-64013400	Transcr. at gene 5' and 3'	Right Atrium	heart
49	chr11:64012800-64013400	Active TSS	HepG2	liver
50	chr11:64012800-64013600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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