Variant report

Variant	nsv897856
Chromosome Location	chr11:67806703-67821036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:923)
CpG islands
(count:1648)
Chromatin interactive
region (count:23)
LncRNA
region (count:10)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:923 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:67811036-67811267	K562	blood:	n/a	n/a
2	ARID3A	chr11:67807813-67808001	K562	blood:	n/a	n/a
3	ATF1	chr11:67811006-67811295	K562	blood:	n/a	n/a
4	ATF2	chr11:67819296-67819764	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr11:67810864-67811282	K562	blood:	n/a	n/a
6	ATF3	chr11:67810920-67811356	K562	blood:	n/a	n/a
7	BCL11A	chr11:67808063-67808277	GM12878	blood:	n/a	chr11:67808201-67808214 chr11:67808188-67808201
8	BCL11A	chr11:67808100-67808349	GM12878	blood:	n/a	chr11:67808201-67808214 chr11:67808188-67808201
9	BCL3	chr11:67818956-67819512	A549	lung:	n/a	n/a
10	BCL3	chr11:67820397-67820599	K562	blood:	n/a	n/a
11	BCL3	chr11:67820594-67821083	A549	lung:	n/a	n/a
12	BCL3	chr11:67821030-67822597	A549	lung:	n/a	n/a
13	BCL3	chr11:67819240-67819982	GM12878	blood:	n/a	n/a
14	BCLAF1	chr11:67807922-67808429	GM12878	blood:	n/a	chr11:67808201-67808214 chr11:67808188-67808201
15	BCLAF1	chr11:67820601-67821804	GM12878	blood:	n/a	n/a
16	BHLHE40	chr11:67810793-67811293	K562	blood:	n/a	chr11:67810967-67810983
17	BHLHE40	chr11:67806324-67807679	GM12878	blood:	n/a	chr11:67806545-67806561 chr11:67806553-67806569
18	BHLHE40	chr11:67806763-67806838	HepG2	liver:	n/a	n/a
19	BHLHE40	chr11:67820713-67820826	K562	blood:	n/a	n/a
20	BHLHE40	chr11:67806262-67807447	K562	blood:	n/a	chr11:67806545-67806561 chr11:67806553-67806569
21	BHLHE40	chr11:67807887-67808420	GM12878	blood:	n/a	chr11:67808188-67808204 chr11:67808196-67808212 chr11:67808193-67808209
22	BRCA1	chr11:67807719-67807902	HepG2	liver:	n/a	n/a
23	CBX3	chr11:67806689-67807007	K562	blood:	n/a	n/a
24	CBX3	chr11:67810892-67811346	K562	blood:	n/a	n/a
25	CBX3	chr11:67806148-67807089	K562	blood:	n/a	n/a
26	CBX3	chr11:67807347-67807896	K562	blood:	n/a	n/a
27	CCNT2	chr11:67810155-67811308	K562	blood:	n/a	chr11:67810359-67810368
28	CCNT2	chr11:67816327-67816340	K562	blood:	n/a	n/a
29	CCNT2	chr11:67805793-67806848	K562	blood:	n/a	chr11:67806427-67806436
30	CCNT2	chr11:67807709-67808378	K562	blood:	n/a	chr11:67807975-67807984 chr11:67808102-67808111 chr11:67807880-67807889
31	CCNT2	chr11:67807372-67807458	K562	blood:	n/a	n/a
32	CEBPB	chr11:67808060-67808179	HepG2	liver:	n/a	n/a
33	CEBPD	chr11:67820466-67820741	HepG2	liver:	n/a	n/a
34	CEBPD	chr11:67807156-67807496	HepG2	liver:	n/a	n/a
35	CEBPD	chr11:67815993-67816248	HepG2	liver:	n/a	n/a
36	CHD1	chr11:67807295-67808366	GM12878	blood:	n/a	n/a
37	CHD2	chr11:67807849-67807924	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr11:67806252-67806715	Hela-S3	cervix:	n/a	chr11:67806428-67806438
39	CHD2	chr11:67810788-67810824	K562	blood:	n/a	n/a
40	CHD2	chr11:67808003-67808143	K562	blood:	n/a	n/a
41	CHD2	chr11:67807663-67807703	K562	blood:	n/a	n/a
42	CHD2	chr11:67806307-67806740	GM12878	blood:	n/a	chr11:67806428-67806438
43	CHD2	chr11:67807637-67808485	GM12878	blood:	n/a	n/a
44	CHD2	chr11:67806771-67806958	HepG2	liver:	n/a	n/a
45	CHD2	chr11:67811059-67811228	K562	blood:	n/a	n/a
46	CREB1	chr11:67817275-67817535	A549	lung:	n/a	n/a
47	CTCF	chr11:67807780-67807842	GM19239	blood:	n/a	n/a
48	CTCF	chr11:67812161-67812232	GM12891	blood:	n/a	n/a
49	CTCF	chr11:67812120-67812270	SK-N-SH_RA	brain:	n/a	chr11:67812150-67812158 chr11:67812120-67812133 chr11:67812260-67812269
50	CTCF	chr11:67817584-67817771	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1648 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67815010-67815060	HepG2	liver:	n/a
2	chr11:67815010-67815060	HepG2	liver:	n/a
3	chr11:67810742-67810792	A549	lung:	n/a
4	chr11:67820569-67820619	HRPEpiC	eye:	n/a
5	chr11:67820569-67820619	NB4	blood:	n/a
6	chr11:67810742-67810792	CMK	blood:	n/a
7	chr11:67815048-67815098	Caco-2	colon:	n/a
8	chr11:67810905-67810955	HEEpiC	esophagus:	n/a
9	chr11:67806668-67806718	MCF10A-Er-Src	breast:	n/a
10	chr11:67810300-67810350	SKMC	muscle:	n/a
11	chr11:67817309-67817359	HCM	heart:	n/a
12	chr11:67809271-67809321	GM12892	blood:	n/a
13	chr11:67820569-67820619	GM12892	blood:	n/a
14	chr11:67809980-67810030	HCM	heart:	n/a
15	chr11:67810742-67810792	GM12892	blood:	n/a
16	chr11:67816794-67816844	HCF	heart:	n/a
17	chr11:67810303-67810353	HRPEpiC	eye:	n/a
18	chr11:67811265-67811315	RPTEC	kidney:	n/a
19	chr11:67810303-67810353	NHDF-neo	bronchial:	n/a
20	chr11:67811194-67811244	HCT-116	colon:	n/a
21	chr11:67816794-67816844	SK-N-SH_RA	brain:	n/a
22	chr11:67815326-67815376	HCPEpiC	choroid plexus:	n/a
23	chr11:67809271-67809321	HRPEpiC	eye:	n/a
24	chr11:67817309-67817359	Hepatocyte	liver:	n/a
25	chr11:67817309-67817359	SAEC	small airway:	n/a
26	chr11:67810310-67810360	NH-A	brain:	n/a
27	chr11:67811114-67811164	ovcar-3	ovarian:	n/a
28	chr11:67815010-67815060	HRPEpiC	eye:	n/a
29	chr11:67809980-67810030	AG09319	gingival:	n/a
30	chr11:67817488-67817538	SK-N-SH	brain:	n/a
31	chr11:67811114-67811164	HCT-116	colon:	n/a
32	chr11:67811194-67811244	MCF-7	breast:	n/a
33	chr11:67809271-67809321	HL-60	blood:	n/a
34	chr11:67810027-67810077	GM06990	blood:	n/a
35	chr11:67817488-67817538	HCT-116	colon:	n/a
36	chr11:67810268-67810318	HRPEpiC	eye:	n/a
37	chr11:67811265-67811315	SK-N-SH_RA	brain:	n/a
38	chr11:67817606-67817656	HMEC	breast:	n/a
39	chr11:67817309-67817359	GM19239	blood:	n/a
40	chr11:67811641-67811691	MCF10A-Er-Src	breast:	n/a
41	chr11:67810300-67810350	GM12892	blood:	n/a
42	chr11:67810303-67810353	HNPCEpiC	eye:	n/a
43	chr11:67820569-67820619	AG09309	skin:	n/a
44	chr11:67810303-67810353	Caco-2	colon:	n/a
45	chr11:67815326-67815376	NHBE	bronchial:	n/a
46	chr11:67811641-67811691	AoSMC	blood vessel:	n/a
47	chr11:67820569-67820619	AG09319	gingival:	n/a
48	chr11:67809980-67810030	BE2_C	brain:	n/a
49	chr11:67817309-67817359	GM12878	blood:	n/a
50	chr11:67811265-67811315	AG04449	skin:	fetal

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67819215..67821345-chr11:67829037..67831541,2	MCF-7	breast:
2	chr11:67805532..67808187-chr11:67887312..67890096,4	MCF-7	breast:
3	chr11:67770794..67772778-chr11:67808133..67810042,2	K562	blood:
4	chr11:67815563..67818643-chr11:67818782..67821542,3	MCF-7	breast:
5	chr11:67811381..67813688-chr11:67817508..67819150,2	MCF-7	breast:
6	chr11:67775793..67778690-chr11:67807368..67809251,2	K562	blood:
7	chr11:67815563..67818643-chr11:67818782..67821542,3	MCF-7	breast:
8	chr11:67805173..67807792-chr11:67887405..67889765,3	K562	blood:
9	chr11:67803608..67807840-chr11:67979633..67982182,3	K562	blood:
10	chr11:67808301..67812245-chr11:67979811..67982318,4	K562	blood:
11	chr11:67809131..67812171-chr11:67888117..67890461,4	MCF-7	breast:
12	chr11:67803003..67807692-chr11:67979461..67982180,5	MCF-7	breast:
13	chr11:67807201..67809686-chr11:67857151..67859179,2	K562	blood:
14	chr11:67805173..67809189-chr11:67886289..67889765,4	K562	blood:
15	chr11:67809744..67812462-chr11:67979811..67982598,3	K562	blood:
16	chr11:67807994..67810183-chr11:67972884..67975191,2	K562	blood:
17	chr11:67820451..67823132-chr11:67825411..67828597,5	K562	blood:
18	chr11:67805993..67806840-chr3:73160072..73160591,2	Hela-S3	cervix:
19	chr11:67806702..67808543-chr11:67969108..67970985,2	MCF-7	breast:
20	chr11:67810552..67812245-chr11:67980611..67983549,2	MCF-7	breast:
21	chr11:67811381..67813688-chr11:67817508..67819150,2	MCF-7	breast:
22	chr11:67773590..67781005-chr11:67806590..67810441,8	K562	blood:
23	chr11:67770218..67773172-chr11:67805064..67808057,3	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCIRG1-1	chr11:67820290-67820552	ENSG00000255031.1
2	lnc-TCIRG1-1	chr11:67819100-67821228	NONHSAT022500
3	lnc-TCIRG1-1	chr11:67817751-67817891	NONHSAT022498
4	lnc-TCIRG1-1	chr11:67819560-67819908	ENSG00000255031.1
5	lnc-TCIRG1-1	chr11:67818209-67818288	NONHSAT022498
6	lnc-TCIRG1-1	chr11:67820447-67820552	ENSG00000255031.1
7	lnc-TCIRG1-1	chr11:67818208-67818288	NONHSAT022497
8	lnc-TCIRG1-1	chr11:67817750-67817891	NONHSAT022497
9	lnc-TCIRG1-1	chr11:67820826-67821161	ENSG00000255031.1
10	lnc-TCIRG1-1	chr11:67820829-67821229	ENSG00000255031.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6753-3p	chr11:67812399-67812420	MIMAT0027407
hsa-miR-6753-5p	chr11:67812261-67812282	MIMAT0027406

No data

Variant related genes	Relation type
ENSG00000255031	TF binding region
TCIRG1	TF binding region
ENSG00000255031	CpG island
TCIRG1	CpG island
ENSG00000110057	chromatin interactions
ENSG00000110719	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000255236	chromatin interactions
ENSG00000110066	chromatin interactions
ENSG00000110721	chromatin interactions
ENSG00000006534	chromatin interactions
ENSG00000255031	chromatin interactions

Extended variants
information (count: 773 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:773 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1076558	chr11:67806703-67806704	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs112409481	chr11:67806705-67806706	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs530316120	chr11:67806808-67806809	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs542146905	chr11:67806838-67806839	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs560736984	chr11:67806906-67806907	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs191241622	chr11:67806943-67806944	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs149135024	chr11:67807084-67807085	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs368611850	chr11:67807097-67807098	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs532268549	chr11:67807126-67807127	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs199595602	chr11:67807135-67807136	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs5792431	chr11:67807143-67807144	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs397741512	chr11:67807146-67807147	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs568904031	chr11:67807170-67807171	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs536527173	chr11:67807177-67807178	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs552106433	chr11:67807222-67807223	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs554614585	chr11:67807227-67807228	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs148324274	chr11:67807228-67807229	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs117155384	chr11:67807247-67807248	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs528544284	chr11:67807271-67807272	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs536699120	chr11:67807294-67807295	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs544336041	chr11:67807297-67807298	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs556119528	chr11:67807305-67807306	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs185819792	chr11:67807312-67807313	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs145627021	chr11:67807326-67807327	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs148222891	chr11:67807330-67807331	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs547094874	chr11:67807365-67807366	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs372626153	chr11:67807428-67807429	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs527992170	chr11:67807461-67807462	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs190293447	chr11:67807464-67807465	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs564720622	chr11:67807474-67807475	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs141756444	chr11:67807533-67807534	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs568538352	chr11:67807545-67807546	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs375522163	chr11:67807560-67807561	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs536090345	chr11:67807614-67807615	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs367863213	chr11:67807653-67807654	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs568866204	chr11:67807688-67807689	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs368391748	chr11:67807709-67807710	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs375946744	chr11:67807733-67807734	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs551285792	chr11:67807788-67807789	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs529756071	chr11:67807796-67807797	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs112560438	chr11:67807802-67807803	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs548175503	chr11:67807865-67807866	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs566600398	chr11:67807907-67807908	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs534114472	chr11:67807908-67807909	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs558432292	chr11:67807934-67807935	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs570342021	chr11:67807944-67807945	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs537948965	chr11:67807963-67807964	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs556283037	chr11:67807970-67807971	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs574605171	chr11:67807983-67807984	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs117597992	chr11:67807986-67807987	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	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
Myelofibrosis	22110671	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD

Chromatin state (count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67802000-67807400	Weak transcription	Dnd41	blood
2	chr11:67804000-67807400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:67805200-67808000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr11:67805200-67808800	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr11:67805400-67807800	Flanking Active TSS	Liver	Liver
6	chr11:67805400-67808200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:67805400-67808600	Enhancers	Fetal Heart	heart
8	chr11:67805600-67808800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr11:67805800-67806800	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr11:67805800-67807000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:67805800-67807200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:67805800-67807200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:67805800-67807200	Flanking Active TSS	Right Ventricle	heart
14	chr11:67805800-67807800	Flanking Active TSS	Fetal Intestine Small	intestine
15	chr11:67805800-67808200	Active TSS	HepG2	liver
16	chr11:67805800-67808400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:67805800-67808400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:67805800-67808400	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr11:67805800-67808600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:67805800-67808600	Flanking Active TSS	Colonic Mucosa	Colon
21	chr11:67805800-67808600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr11:67805800-67808600	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr11:67805800-67808800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:67806000-67806800	Bivalent Enhancer	Fetal Brain Male	brain
25	chr11:67806000-67807000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr11:67806000-67807000	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr11:67806000-67807000	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr11:67806000-67807000	Active TSS	Fetal Kidney	kidney
29	chr11:67806000-67807200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr11:67806000-67807200	Flanking Active TSS	HMEC	breast
31	chr11:67806000-67808400	Active TSS	Brain Angular Gyrus	brain
32	chr11:67806000-67808600	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr11:67806000-67808600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr11:67806000-67808600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr11:67806000-67808600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr11:67806000-67808600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:67806000-67808600	Flanking Active TSS	Fetal Stomach	stomach
38	chr11:67806000-67808600	Flanking Active TSS	Fetal Thymus	thymus
39	chr11:67806000-67808800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:67806000-67809000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr11:67806200-67806800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:67806200-67806800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:67806200-67806800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:67806200-67806800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr11:67806200-67806800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr11:67806200-67806800	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr11:67806200-67806800	Active TSS	Hela-S3	cervix
48	chr11:67806200-67807000	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr11:67806200-67807000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:67806200-67807000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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