Variant report

Variant	nsv471671
Chromosome Location	chr11:58730786-58887639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2204)
CpG islands
(count:2690)
Chromatin interactive
region (count:26)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2204 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:58792609-58792905	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:58874268-58874746	HepG2	liver:	n/a	n/a
3	ATF1	chr11:58779639-58779652	K562	blood:	n/a	n/a
4	ATF1	chr11:58864804-58864948	K562	blood:	n/a	n/a
5	ATF2	chr11:58874344-58874770	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:58869726-58870352	GM12878	blood:	n/a	n/a
7	ATF2	chr11:58874015-58875031	GM12878	blood:	n/a	n/a
8	ATF2	chr11:58869606-58870352	GM12878	blood:	n/a	n/a
9	ATF2	chr11:58831402-58832419	GM12878	blood:	n/a	n/a
10	ATF2	chr11:58864502-58864964	GM12878	blood:	n/a	n/a
11	ATF2	chr11:58874367-58874899	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr11:58825833-58826405	GM12878	blood:	n/a	n/a
13	ATF2	chr11:58874286-58874870	GM12878	blood:	n/a	n/a
14	ATF2	chr11:58831671-58832143	GM12878	blood:	n/a	n/a
15	ATF3	chr11:58869743-58869963	K562	blood:	n/a	n/a
16	BACH1	chr11:58873974-58874757	H1-hESC	embryonic stem cell:	n/a	chr11:58874543-58874557
17	BACH1	chr11:58869800-58870060	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr11:58825972-58826213	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr11:58869559-58870293	GM12878	blood:	n/a	n/a
20	BATF	chr11:58831416-58832275	GM12878	blood:	n/a	chr11:58831926-58831934
21	BATF	chr11:58831786-58832150	GM12878	blood:	n/a	chr11:58831926-58831934
22	BATF	chr11:58875555-58875818	GM12878	blood:	n/a	chr11:58875662-58875670
23	BATF	chr11:58826199-58826498	GM12878	blood:	n/a	n/a
24	BATF	chr11:58818940-58819193	GM12878	blood:	n/a	n/a
25	BATF	chr11:58760001-58760259	GM12878	blood:	n/a	chr11:58760105-58760116
26	BATF	chr11:58875256-58875548	GM12878	blood:	n/a	n/a
27	BATF	chr11:58874419-58874727	GM12878	blood:	n/a	chr11:58874543-58874553 chr11:58874547-58874557 chr11:58874542-58874553
28	BATF	chr11:58862752-58863071	GM12878	blood:	n/a	n/a
29	BATF	chr11:58831471-58831776	GM12878	blood:	n/a	n/a
30	BCL11A	chr11:58869844-58870260	GM12878	blood:	n/a	n/a
31	BCL11A	chr11:58818878-58819275	GM12878	blood:	n/a	chr11:58819091-58819100
32	BCL11A	chr11:58862690-58863069	GM12878	blood:	n/a	chr11:58862903-58862912
33	BCL11A	chr11:58818899-58819262	GM12878	blood:	n/a	chr11:58819091-58819100
34	BCL11A	chr11:58831483-58831904	GM12878	blood:	n/a	n/a
35	BCL11A	chr11:58862711-58863079	GM12878	blood:	n/a	chr11:58862903-58862912
36	BCL11A	chr11:58869760-58870216	GM12878	blood:	n/a	n/a
37	BCL11A	chr11:58831528-58832157	GM12878	blood:	n/a	n/a
38	BCL11A	chr11:58875271-58875606	GM12878	blood:	n/a	n/a
39	BCL3	chr11:58831794-58832281	GM12878	blood:	n/a	n/a
40	BCL3	chr11:58869751-58870129	GM12878	blood:	n/a	n/a
41	BCLAF1	chr11:58873883-58874436	GM12878	blood:	n/a	chr11:58874084-58874097
42	BCLAF1	chr11:58869623-58870275	GM12878	blood:	n/a	n/a
43	BCLAF1	chr11:58869650-58870315	GM12878	blood:	n/a	n/a
44	BHLHE40	chr11:58874616-58874646	K562	blood:	n/a	n/a
45	BHLHE40	chr11:58873768-58874942	GM12878	blood:	n/a	chr11:58874078-58874094 chr11:58874166-58874182 chr11:58873986-58874002 chr11:58874149-58874165 chr11:58873949-58873965
46	BHLHE40	chr11:58874184-58874825	HepG2	liver:	n/a	n/a
47	BHLHE40	chr11:58862780-58863126	GM12878	blood:	n/a	n/a
48	BHLHE40	chr11:58874518-58874815	A549	lung:	n/a	n/a
49	BHLHE40	chr11:58820953-58821000	K562	blood:	n/a	n/a
50	BHLHE40	chr11:58865311-58865484	GM12878	blood:	n/a	n/a

(count:2690 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:58810187-58810237	Caco-2	colon:	n/a
2	chr11:58736104-58736154	A549	lung:	n/a
3	chr11:58870075-58870125	GM12891	blood:	n/a
4	chr11:58830355-58830405	PrEC	prostate:	n/a
5	chr11:58870075-58870125	SK-N-MC	brain:	n/a
6	chr11:58874635-58874685	Jurkat	blood:	n/a
7	chr11:58810187-58810237	Caco-2	colon:	n/a
8	chr11:58736104-58736154	A549	lung:	n/a
9	chr11:58870075-58870125	GM12891	blood:	n/a
10	chr11:58830355-58830405	PrEC	prostate:	n/a
11	chr11:58870075-58870125	SK-N-MC	brain:	n/a
12	chr11:58874635-58874685	Jurkat	blood:	n/a
13	chr11:58731357-58731407	Hepatocyte	liver:	n/a
14	chr11:58869823-58869873	PANC-1	pancreas:	n/a
15	chr11:58810187-58810237	HRCEpiC	kidney:	n/a
16	chr11:58830424-58830474	HMEC	breast:	n/a
17	chr11:58731505-58731555	SK-N-SH	brain:	n/a
18	chr11:58869663-58869713	A549	lung:	n/a
19	chr11:58869979-58870029	HMEC	breast:	n/a
20	chr11:58869979-58870029	NHDF-neo	bronchial:	n/a
21	chr11:58870075-58870125	NB4	blood:	n/a
22	chr11:58874635-58874685	NT2-D1	testis:	n/a
23	chr11:58874637-58874687	PANC-1	pancreas:	n/a
24	chr11:58833356-58833406	NHDF-neo	bronchial:	n/a
25	chr11:58826414-58826464	NT2-D1	testis:	n/a
26	chr11:58731433-58731483	HepG2	liver:	n/a
27	chr11:58830424-58830474	ECC-1	luminal epithelium:	n/a
28	chr11:58736000-58736050	MCF-7	breast:	n/a
29	chr11:58874641-58874691	NHBE	bronchial:	n/a
30	chr11:58731357-58731407	HIPEpiC	eye:	n/a
31	chr11:58873823-58873873	HEK293	kidney:	embryo
32	chr11:58874207-58874257	ECC-1	luminal epithelium:	n/a
33	chr11:58735304-58735354	HRPEpiC	eye:	n/a
34	chr11:58736104-58736154	RPTEC	kidney:	n/a
35	chr11:58866721-58866771	SKMC	muscle:	n/a
36	chr11:58735304-58735354	BE2_C	brain:	n/a
37	chr11:58736081-58736131	T-47D	breast:	n/a
38	chr11:58830191-58830241	AG09309	skin:	n/a
39	chr11:58830424-58830474	GM12878	blood:	n/a
40	chr11:58736104-58736154	HIPEpiC	eye:	n/a
41	chr11:58731433-58731483	GM12892	blood:	n/a
42	chr11:58731357-58731407	NH-A	brain:	n/a
43	chr11:58874637-58874687	SKMC	muscle:	n/a
44	chr11:58874207-58874257	AG04449	skin:	fetal
45	chr11:58730897-58730947	HL-60	blood:	n/a
46	chr11:58874645-58874695	AoSMC	blood vessel:	n/a
47	chr11:58826073-58826123	K562	blood:	n/a
48	chr11:58874641-58874691	PFSK-1	brain:	n/a
49	chr11:58873823-58873873	T-47D	breast:	n/a
50	chr11:58866721-58866771	HCT-116	colon:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:58884380..58886693-chr11:58887312..58889287,2	K562	blood:
2	chr11:58869192..58871421-chr11:58911598..58913836,2	MCF-7	breast:
3	chr11:58864668..58865554-chr11:58903471..58904061,2	MCF-7	breast:
4	chr11:58884380..58886693-chr11:58887312..58889287,2	K562	blood:
5	chr11:58873861..58874546-chr5:111496427..111496981,2	Hela-S3	cervix:
6	chr11:58869975..58872858-chr11:58877240..58880132,2	MCF-7	breast:
7	chr11:58863409..58866220-chr11:58910202..58912249,2	K562	blood:
8	chr11:58873805..58875305-chr17:41466179..41467880,2	MCF-7	breast:
9	chr11:58869769..58871706-chr11:58872515..58874019,2	MCF-7	breast:
10	chr11:58872425..58874544-chr11:58888169..58890358,2	MCF-7	breast:
11	chr11:58729566..58731391-chr11:58732930..58735906,2	K562	blood:
12	chr11:58873708..58874686-chr11:63448916..63449711,2	Hela-S3	cervix:
13	chr11:58869989..58871867-chr11:58872289..58874332,2	MCF-7	breast:
14	chr11:58874735..58876453-chr11:58878007..58880480,2	MCF-7	breast:
15	chr11:58873805..58876804-chr17:41466274..41467888,2	K562	blood:
16	chr11:58762969..58764487-chr11:58768997..58771127,2	K562	blood:
17	chr11:58875510..58878300-chr11:58880309..58883300,3	MCF-7	breast:
18	chr11:58869769..58871706-chr11:58872515..58874019,2	MCF-7	breast:
19	chr11:58399679..58402149-chr11:58838160..58840024,2	K562	blood:
20	chr11:58874735..58876453-chr11:58878007..58880480,2	MCF-7	breast:
21	chr11:58869975..58872858-chr11:58877240..58880132,2	MCF-7	breast:
22	chr11:58875510..58878300-chr11:58880309..58883300,3	MCF-7	breast:
23	chr11:58830364..58831268-chr11:58873992..58874927,2	HCT-116	colon:
24	chr11:58875233..58875940-chr12:49657802..49658323,2	Hela-S3	cervix:
25	chr11:58869989..58871867-chr11:58872289..58874332,2	MCF-7	breast:
26	chr11:58762969..58764487-chr11:58768997..58771127,2	K562	blood:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM111A-1	chr11:58876141-58876185	NONHSAT021500
2	lnc-GLYATL2-2	chr11:58820930-58821099	ENSG00000255240.1
3	lnc-GLYATL2-4	chr11:58735069-58735764	NONHSAT021495
4	lnc-GLYATL2-2	chr11:58761476-58761524	NR_033853
5	lnc-GLYATL2-2	chr11:58818733-58818781	ENSG00000255240.1
6	lnc-GLYATL2-2	chr11:58746601-58746798	ENSG00000255240.1
7	lnc-GLYATL2-2	chr11:58820930-58821099	ENSG00000255240.1
8	lnc-GLYATL2-2	chr11:58820930-58821099	NR_033853
9	lnc-GLYATL2-2	chr11:58818733-58818781	NR_033853
10	lnc-GLYATL2-2	chr11:58822768-58822919	ENSG00000255240.1
11	lnc-GLYATL2-2	chr11:58825845-58825923	ENSG00000255240.1
12	lnc-FAM111A-1	chr11:58877013-58877480	NONHSAT021500
13	lnc-GLYATL2-2	chr11:58736415-58736546	ENSG00000255240.1
14	lnc-GLYATL2-2	chr11:58818733-58818781	ENSG00000255240.1
15	lnc-GLYATL2-2	chr11:58825845-58825925	NR_033853
16	lnc-GLYATL2-2	chr11:58761476-58761524	ENSG00000255240.1
17	lnc-GLYATL2-2	chr11:58746601-58746798	NR_033853
18	lnc-GLYATL2-2	chr11:58736426-58736546	ENSG00000255240.1
19	lnc-FAM111A-1	chr11:58874709-58874769	NONHSAT021500
20	lnc-GLYATL2-2	chr11:58746601-58746758	ENSG00000255240.1
21	lnc-GLYATL2-2	chr11:58825845-58826132	ENSG00000255240.1

No data

Variant related genes	Relation type
GLYATL1P1	TF binding region
ENSG00000255240	TF binding region
GLYATL1P3	TF binding region
GLYATL1P4	TF binding region
ENSG00000254877	TF binding region
ENSG00000254786	TF binding region
FAM111B	TF binding region
GLYATL1P1	CpG island
ENSG00000255240	CpG island
GLYATL1P3	CpG island
GLYATL1P4	CpG island
ENSG00000254877	CpG island
ENSG00000254786	CpG island
FAM111B	CpG island
ENSG00000254877	chromatin interactions
ENSG00000133318	chromatin interactions
ENSG00000224032	chromatin interactions
ENSG00000189057	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000166801	chromatin interactions
ENSG00000245571	chromatin interactions
KIF2A	miRNA target sites
CNOT6	miRNA target sites
GSPT1	miRNA target sites

Extended variants
information (count: 6275 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:6275 , 50 per page) page: 1 2 3 4 5 6 7 ... 126

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540951243	chr11:58730850-58730851	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186255519	chr11:58730855-58730856	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189971379	chr11:58730878-58730879	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528785634	chr11:58730900-58730901	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs199881795	chr11:58730934-58730935	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551032277	chr11:58730938-58730939	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569299897	chr11:58730957-58730958	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75194838	chr11:58730962-58730963	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551240991	chr11:58730979-58730980	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148022802	chr11:58730992-58730993	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533801231	chr11:58731056-58731057	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555274233	chr11:58731101-58731102	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs77223851	chr11:58731111-58731112	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537487785	chr11:58731113-58731114	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs552050209	chr11:58731114-58731115	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368520402	chr11:58731116-58731117	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556212115	chr11:58731126-58731127	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577628087	chr11:58731142-58731143	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538732934	chr11:58731143-58731144	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558357802	chr11:58731151-58731152	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573494665	chr11:58731152-58731153	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs114831946	chr11:58731155-58731156	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181622940	chr11:58731200-58731201	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201157451	chr11:58731215-58731216	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573975919	chr11:58731248-58731249	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200006919	chr11:58731250-58731251	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531183902	chr11:58731299-58731300	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374186368	chr11:58731358-58731359	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186991005	chr11:58731388-58731389	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562903699	chr11:58731391-58731392	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533240003	chr11:58731456-58731457	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs551867202	chr11:58731458-58731459	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs559898460	chr11:58731484-58731485	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs79458167	chr11:58731495-58731496	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs548859932	chr11:58731497-58731498	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs567260950	chr11:58731529-58731530	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs191830999	chr11:58731569-58731570	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs549467429	chr11:58731579-58731580	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs571246129	chr11:58731618-58731619	Active TSS Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538323066	chr11:58731675-58731676	Active TSS Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112642820	chr11:58731725-58731726	Active TSS Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367697955	chr11:58731743-58731744	Active TSS Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143630247	chr11:58731762-58731763	Active TSS Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527548725	chr11:58731774-58731775	Active TSS Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547580566	chr11:58731836-58731837	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs147204145	chr11:58731839-58731840	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs183341640	chr11:58731862-58731863	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs532916843	chr11:58731900-58731901	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs140809704	chr11:58731925-58731926	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs113373055	chr11:58732025-58732026	Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	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
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1906 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58723400-58731000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:58723400-58731000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:58726200-58730800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:58726600-58740000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:58730200-58739400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:58730400-58730800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr11:58730600-58730800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:58730600-58730800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:58730600-58730800	Enhancers	Liver	Liver
10	chr11:58730600-58730800	Enhancers	NHEK	skin
11	chr11:58730600-58730800	Enhancers	Osteobl	bone
12	chr11:58730600-58731000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr11:58730600-58731000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:58730600-58731000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr11:58730600-58731000	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr11:58730600-58731200	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr11:58730600-58731800	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr11:58730800-58731000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:58730800-58731000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:58730800-58731000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:58730800-58731000	Enhancers	Fetal Muscle Trunk	muscle
22	chr11:58730800-58731000	Enhancers	Pancreas	Pancrea
23	chr11:58730800-58731000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr11:58730800-58731000	Active TSS	Stomach Mucosa	stomach
25	chr11:58730800-58731000	Flanking Active TSS	HSMMtube	muscle
26	chr11:58730800-58731200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:58730800-58731200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:58730800-58731200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:58730800-58731200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:58730800-58731200	Flanking Active TSS	Liver	Liver
31	chr11:58730800-58731200	Enhancers	Esophagus	oesophagus
32	chr11:58730800-58731200	Active TSS	K562	blood
33	chr11:58730800-58731200	Bivalent/Poised TSS	NHLF	lung
34	chr11:58730800-58731200	Flanking Active TSS	Osteobl	bone
35	chr11:58730800-58731400	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr11:58730800-58731400	Active TSS	Fetal Intestine Large	intestine
37	chr11:58730800-58731600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr11:58730800-58731600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:58730800-58731600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:58730800-58731600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:58730800-58731600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:58730800-58731600	Active TSS	Fetal Brain Female	brain
43	chr11:58730800-58731600	Bivalent/Poised TSS	Fetal Stomach	stomach
44	chr11:58730800-58731600	Flanking Active TSS	NHEK	skin
45	chr11:58730800-58731800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr11:58730800-58731800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr11:58730800-58731800	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:58730800-58731800	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr11:58730800-58732000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr11:58731000-58731200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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