Variant report

Variant	nsv983032
Chromosome Location	chr11:64011401-64015138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:952)
CpG islands
(count:551)
Chromatin interactive
region (count:40)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:952 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

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	ATF2	chr11:64013121-64013695	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr11:64014366-64014903	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr11:64011277-64011612	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr11:64013274-64013500	K562	blood:	n/a	n/a
6	ATF3	chr11:64013134-64013699	A549	lung:	n/a	n/a
7	ATF3	chr11:64013093-64013611	A549	lung:	n/a	n/a
8	ATF3	chr11:64013123-64013563	K562	blood:	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	chr11:64014369-64015117	A549	lung:	n/a	chr11:64015040-64015049 chr11:64015031-64015044 chr11:64014422-64014431 chr11:64014369-64014382 chr11:64014861-64014869
12	BCL3	chr11:64010566-64011505	A549	lung:	n/a	n/a
13	BCL3	chr11:64011504-64011786	K562	blood:	n/a	n/a
14	BCL3	chr11:64012312-64013922	A549	lung:	n/a	chr11:64013569-64013582 chr11:64013147-64013155 chr11:64013495-64013508
15	BCL3	chr11:64011507-64011991	A549	lung:	n/a	chr11:64011791-64011799
16	BCL3	chr11:64012561-64013718	A549	lung:	n/a	chr11:64013569-64013582 chr11:64013147-64013155 chr11:64013495-64013508
17	BCL3	chr11:64007865-64012097	A549	lung:	n/a	chr11:64008413-64008422 chr11:64008867-64008880 chr11:64009302-64009311 chr11:64008425-64008438 chr11:64008875-64008884 chr11:64009641-64009654 chr11:64011791-64011799 chr11:64008863-64008876 chr11:64008351-64008360 chr11:64008974-64008983 chr11:64008868-64008877 chr11:64009165-64009174 chr11:64009330-64009343
18	BCLAF1	chr11:64012878-64013417	GM12878	blood:	n/a	chr11:64013147-64013155
19	BCLAF1	chr11:64014766-64015155	GM12878	blood:	n/a	chr11:64015040-64015049 chr11:64015031-64015044 chr11:64014861-64014869
20	BCLAF1	chr11:64014504-64015253	K562	blood:	n/a	chr11:64015040-64015049 chr11:64015031-64015044 chr11:64014861-64014869
21	BHLHE40	chr11:64014012-64014186	GM12878	blood:	n/a	n/a
22	BHLHE40	chr11:64013245-64013632	K562	blood:	n/a	n/a
23	BHLHE40	chr11:64014541-64015188	GM12878	blood:	n/a	chr11:64015031-64015047
24	BHLHE40	chr11:64014633-64015198	K562	blood:	n/a	chr11:64015031-64015047
25	BRCA1	chr11:64013148-64013556	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr11:64014556-64015063	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr11:64014502-64014731	H1-hESC	embryonic stem cell:	n/a	n/a
28	CBX3	chr11:64013220-64013638	K562	blood:	n/a	n/a
29	CBX3	chr11:64014291-64015234	K562	blood:	n/a	n/a
30	CBX3	chr11:64014560-64014997	K562	blood:	n/a	n/a
31	CCNT2	chr11:64014168-64014175	K562	blood:	n/a	n/a
32	CCNT2	chr11:64014736-64015350	K562	blood:	n/a	chr11:64014924-64014933 chr11:64015046-64015055
33	CCNT2	chr11:64013221-64013636	K562	blood:	n/a	n/a
34	CEBPB	chr11:64013267-64013640	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr11:64014892-64015092	Hela-S3	cervix:	n/a	n/a
36	CEBPD	chr11:64013528-64013835	HepG2	liver:	n/a	n/a
37	CHD1	chr11:64013490-64013688	GM12878	blood:	n/a	n/a
38	CHD1	chr11:64012569-64014208	IMR90	lung:	n/a	chr11:64012950-64012960
39	CHD2	chr11:64013388-64013700	K562	blood:	n/a	n/a
40	CHD2	chr11:64014652-64015202	HepG2	liver:	n/a	n/a
41	CHD2	chr11:64014707-64015232	GM12878	blood:	n/a	n/a
42	CHD2	chr11:64014517-64015154	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr11:64012918-64013870	Hela-S3	cervix:	n/a	chr11:64012950-64012960
44	CHD2	chr11:64014305-64015231	Hela-S3	cervix:	n/a	chr11:64014327-64014337
45	CHD2	chr11:64012980-64013838	GM12878	blood:	n/a	n/a
46	CHD2	chr11:64014532-64015247	K562	blood:	n/a	n/a
47	CHD2	chr11:64013286-64013614	HepG2	liver:	n/a	n/a
48	CREB1	chr11:64014676-64015212	A549	lung:	n/a	n/a
49	CREB1	chr11:64013228-64013740	A549	lung:	n/a	n/a
50	CREB1	chr11:64013921-64014597	A549	lung:	n/a	n/a

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64014589-64014639	HL-60	blood:	n/a
2	chr11:64014554-64014604	MCF-7	breast:	n/a
3	chr11:64014589-64014639	HL-60	blood:	n/a
4	chr11:64014554-64014604	MCF-7	breast:	n/a
5	chr11:64014541-64014591	PANC-1	pancreas:	n/a
6	chr11:64014554-64014604	Hepatocyte	liver:	n/a
7	chr11:64014871-64014921	AoSMC	blood vessel:	n/a
8	chr11:64011997-64012047	U87	brain:	n/a
9	chr11:64014589-64014639	ovcar-3	ovarian:	n/a
10	chr11:64013837-64013887	NH-A	brain:	n/a
11	chr11:64013991-64014041	Jurkat	blood:	n/a
12	chr11:64014541-64014591	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:64014541-64014591	SK-N-MC	brain:	n/a
14	chr11:64014518-64014568	LNCaP	prostate:	n/a
15	chr11:64014554-64014604	ProgFib	skin:	n/a
16	chr11:64013837-64013887	T-47D	breast:	n/a
17	chr11:64013991-64014041	GM12878	blood:	n/a
18	chr11:64014589-64014639	T-47D	breast:	n/a
19	chr11:64014598-64014648	SK-N-SH_RA	brain:	n/a
20	chr11:64011997-64012047	NHDF-neo	bronchial:	n/a
21	chr11:64014554-64014604	Jurkat	blood:	n/a
22	chr11:64014518-64014568	GM12891	blood:	n/a
23	chr11:64013991-64014041	AG04449	skin:	fetal
24	chr11:64014589-64014639	NHBE	bronchial:	n/a
25	chr11:64013837-64013887	GM19239	blood:	n/a
26	chr11:64014541-64014591	RPTEC	kidney:	n/a
27	chr11:64014589-64014639	GM12892	blood:	n/a
28	chr11:64013991-64014041	HUVEC	blood vessel:	n/a
29	chr11:64011997-64012047	H1-hESC	embryonic stem cell:	embryo
30	chr11:64014541-64014591	SAEC	small airway:	n/a
31	chr11:64014541-64014591	GM12892	blood:	n/a
32	chr11:64014554-64014604	MCF10A-Er-Src	breast:	n/a
33	chr11:64014541-64014591	A549	lung:	n/a
34	chr11:64014589-64014639	H1-hESC	embryonic stem cell:	embryo
35	chr11:64014871-64014921	ovcar-3	ovarian:	n/a
36	chr11:64013837-64013887	HCPEpiC	choroid plexus:	n/a
37	chr11:64014598-64014648	HUVEC	blood vessel:	n/a
38	chr11:64011997-64012047	AG04449	skin:	fetal
39	chr11:64014554-64014604	IMR90	lung:	fetal
40	chr11:64014598-64014648	Hela-S3	cervix:	n/a
41	chr11:64014541-64014591	ProgFib	skin:	n/a
42	chr11:64013991-64014041	HCT-116	colon:	n/a
43	chr11:64014541-64014591	HIPEpiC	eye:	n/a
44	chr11:64011997-64012047	HRPEpiC	eye:	n/a
45	chr11:64014518-64014568	HCT-116	colon:	n/a
46	chr11:64014541-64014591	NB4	blood:	n/a
47	chr11:64013837-64013887	HIPEpiC	eye:	n/a
48	chr11:64014871-64014921	NB4	blood:	n/a
49	chr11:64014554-64014604	HNPCEpiC	eye:	n/a
50	chr11:64013991-64014041	PANC-1	pancreas:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63933599..63935402-chr11:64009536..64011698,2	K562	blood:
2	chr11:64011433..64012934-chr9:86594383..86596466,2	MCF-7	breast:
3	chr11:64013769..64016116-chr11:64064254..64066876,2	MCF-7	breast:
4	chr11:64013360..64015283-chr11:64125680..64128243,2	MCF-7	breast:
5	chr11:64012378..64014719-chr11:64084381..64087113,3	K562	blood:
6	chr11:64011811..64014800-chr11:64054845..64057591,2	MCF-7	breast:
7	chr11:64008607..64011562-chr11:64108610..64113296,4	MCF-7	breast:
8	chr11:64012363..64015118-chr11:64095317..64097895,3	MCF-7	breast:
9	chr11:64014325..64014848-chr19:59070528..59071297,2	NB4	blood:
10	chr11:64014642..64016649-chr11:64400949..64403131,2	MCF-7	breast:
11	chr11:64013671..64014437-chrX:47092332..47093146,2	Hela-S3	cervix:
12	chr11:63951371..63956321-chr11:64011600..64016157,10	MCF-7	breast:
13	chr11:64013817..64015911-chr11:64878839..64880760,2	MCF-7	breast:
14	chr11:64012920..64014834-chr17:54968329..54970844,2	MCF-7	breast:
15	chr11:63930142..63931799-chr11:64009649..64012037,2	K562	blood:
16	chr11:64005251..64012775-chr11:64065543..64076594,19	MCF-7	breast:
17	chr11:64013318..64016582-chr11:64121712..64124866,3	MCF-7	breast:
18	chr11:64012978..64013548-chr19:39926002..39926585,2	Hela-S3	cervix:
19	chr11:64009563..64011727-chr3:73159090..73161572,2	K562	blood:
20	chr11:64014386..64015077-chr16:31191101..31191993,2	Hela-S3	cervix:
21	chr11:64012590..64014829-chr11:64057902..64059525,2	MCF-7	breast:
22	chr11:64013049..64014994-chr11:64052537..64054255,3	MCF-7	breast:
23	chr11:64007008..64012234-chr11:64122125..64125548,6	K562	blood:
24	chr11:64012324..64016807-chr11:64110478..64112580,4	MCF-7	breast:
25	chr11:63930168..63934783-chr11:64013330..64015860,5	MCF-7	breast:
26	chr11:64014835..64015447-chr17:79268805..79269365,2	HCT-116	colon:
27	chr11:64003628..64022712-chr11:64064086..64078429,56	MCF-7	breast:
28	chr11:63962304..63965510-chr11:64012798..64015195,3	MCF-7	breast:
29	chr11:64013219..64015249-chr11:64126039..64128658,2	K562	blood:
30	chr11:64013621..64014200-chr16:3018902..3019600,2	Hela-S3	cervix:
31	chr11:64013373..64015770-chr11:64059905..64062431,2	MCF-7	breast:
32	chr11:62607062..62609117-chr11:64013119..64014953,2	MCF-7	breast:
33	chr11:64013225..64015116-chr11:64056938..64059333,2	MCF-7	breast:
34	chr11:64010042..64012790-chr17:62777056..62779192,2	MCF-7	breast:
35	chr11:62554646..62556730-chr11:64013046..64014548,2	MCF-7	breast:
36	chr11:64010701..64012407-chr11:64113744..64115719,2	K562	blood:
37	chr11:64012813..64019826-chr11:64070484..64074683,9	MCF-7	breast:
38	chr11:64012924..64015359-chr11:64050536..64054535,6	MCF-7	breast:
39	chr11:64014885..64017161-chr11:64083467..64086762,3	K562	blood:
40	chr11:64011010..64014787-chr11:64081606..64086263,4	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R14B-1	chr11:64014411-64014831	ENSG00000257086.1
2	lnc-FKBP2-1	chr11:64014526-64014731	ENSG00000256940.1
3	lnc-FKBP2-1	chr11:64013436-64013561	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
ENSG00000133316	chromatin interactions
ENSG00000185475	chromatin interactions
ENSG00000178966	chromatin interactions
ENSG00000002330	chromatin interactions
ENSG00000254501	chromatin interactions
ENSG00000168071	chromatin interactions
ENSG00000219435	chromatin interactions
ENSG00000182450	chromatin interactions
ENSG00000133315	chromatin interactions
ENSG00000102226	chromatin interactions
ENSG00000257069	chromatin interactions
ENSG00000165119	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000149809	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000121060	chromatin interactions
ENSG00000236935	chromatin interactions
ENSG00000127564	chromatin interactions
ENSG00000267858	chromatin interactions
ENSG00000265238	chromatin interactions
ENSG00000162302	chromatin interactions
ENSG00000162073	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000215769	chromatin interactions
ENSG00000157637	chromatin interactions
ENSG00000126432	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000173264	chromatin interactions
ENSG00000173113	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181364026	chr11:64011434-64011435	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs17849753	chr11:64011441-64011442	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs138590813	chr11:64011442-64011443	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs552389491	chr11:64011459-64011460	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs376378612	chr11:64011487-64011488	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs201615451	chr11:64011521-64011522	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs559583407	chr11:64011534-64011535	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs185914660	chr11:64011539-64011540	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs368428015	chr11:64011554-64011555	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs2298631	chr11:64011556-64011557	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs568326806	chr11:64011564-64011565	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs3177399	chr11:64011602-64011603	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs35989122	chr11:64011615-64011616	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs201962119	chr11:64011622-64011623	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs201304525	chr11:64011623-64011624	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs577453814	chr11:64011656-64011657	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs549858423	chr11:64011685-64011686	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs570140207	chr11:64011691-64011692	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs655896	chr11:64011742-64011743	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs558756623	chr11:64011762-64011763	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs369839073	chr11:64011773-64011774	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs534856586	chr11:64011777-64011778	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs11231727	chr11:64011854-64011855	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs574745637	chr11:64011855-64011856	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs369487647	chr11:64011897-64011898	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs543416778	chr11:64011944-64011945	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs200977075	chr11:64011946-64011947	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs563129045	chr11:64011972-64011973	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs3193834	chr11:64011994-64011995	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs3193820	chr11:64012053-64012054	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs576917090	chr11:64012057-64012058	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs545559153	chr11:64012058-64012059	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs545486986	chr11:64012069-64012070	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs559620134	chr11:64012135-64012136	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs528309267	chr11:64012138-64012139	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs544545433	chr11:64012139-64012140	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs561964164	chr11:64012150-64012151	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs562864459	chr11:64012151-64012152	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs550186993	chr11:64012152-64012153	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs569931165	chr11:64012168-64012169	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs539159838	chr11:64012172-64012173	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs371023573	chr11:64012184-64012185	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs373899207	chr11:64012192-64012193	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs552270070	chr11:64012193-64012194	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs200099242	chr11:64012197-64012198	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs371592017	chr11:64012204-64012205	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs605187	chr11:64012225-64012226	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534892368	chr11:64012254-64012255	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs375040898	chr11:64012292-64012293	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs368869601	chr11:64012304-64012305	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
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:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64009400-64013200	Enhancers	Fetal Brain Male	brain
2	chr11:64009800-64011800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr11:64010000-64012400	Weak transcription	Small Intestine	intestine
4	chr11:64010000-64012600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:64010000-64012600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
6	chr11:64010000-64013000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:64010000-64013000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:64010000-64013200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:64010000-64013600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:64010200-64012200	Genic enhancers	Thymus	Thymus
11	chr11:64010200-64012400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:64010200-64012400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:64010200-64012400	Genic enhancers	Fetal Muscle Leg	muscle
14	chr11:64010200-64012400	Genic enhancers	Fetal Thymus	thymus
15	chr11:64010200-64012400	Weak transcription	Right Atrium	heart
16	chr11:64010200-64012600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:64010200-64012600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:64010200-64012800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:64010200-64013200	Weak transcription	Fetal Kidney	kidney
20	chr11:64010400-64011600	Genic enhancers	Placenta Amnion	Placenta Amnion
21	chr11:64010400-64012000	Genic enhancers	Fetal Intestine Large	intestine
22	chr11:64010400-64012000	Genic enhancers	Osteobl	bone
23	chr11:64010400-64012200	Genic enhancers	Adipose Nuclei	Adipose
24	chr11:64010400-64012200	Genic enhancers	Pancreas	Pancrea
25	chr11:64010400-64012200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:64010400-64012400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:64010400-64012400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:64010400-64012400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:64010400-64012400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:64010400-64012400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:64010400-64012400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:64010400-64012400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:64010400-64012400	Genic enhancers	Esophagus	oesophagus
34	chr11:64010400-64012400	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr11:64010400-64012400	Genic enhancers	Placenta	Placenta
36	chr11:64010400-64012400	Genic enhancers	A549	lung
37	chr11:64010400-64012400	Genic enhancers	HMEC	breast
38	chr11:64010400-64012400	Enhancers	NHDF-Ad	bronchial
39	chr11:64010400-64012400	Genic enhancers	NHLF	lung
40	chr11:64010400-64012600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:64010400-64012600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:64010400-64012600	Genic enhancers	Fetal Intestine Small	intestine
43	chr11:64010400-64012800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:64010400-64012800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:64010400-64012800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:64010400-64012800	Genic enhancers	Fetal Stomach	stomach
47	chr11:64010600-64011800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:64010600-64011800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
49	chr11:64010600-64012000	Genic enhancers	Duodenum Mucosa	Duodenum
50	chr11:64010600-64012200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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