Variant report

Variant	esv3331243
Chromosome Location	chr11:86665354-86668252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:754)
CpG islands
(count:732)
Chromatin interactive
region (count:5)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:754 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:86667658-86667844	K562	blood:	n/a	n/a
2	ARID3A	chr11:86666766-86667767	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:86666336-86666452	HepG2	liver:	n/a	n/a
4	BACH1	chr11:86666668-86667369	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr11:86666755-86667180	K562	blood:	n/a	n/a
6	BHLHE40	chr11:86667445-86667718	K562	blood:	n/a	n/a
7	BHLHE40	chr11:86665888-86666005	K562	blood:	n/a	n/a
8	BHLHE40	chr11:86665203-86665644	K562	blood:	n/a	n/a
9	BHLHE40	chr11:86666208-86666504	K562	blood:	n/a	chr11:86666274-86666290
10	BRCA1	chr11:86666690-86667421	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr11:86666606-86667686	K562	blood:	n/a	n/a
12	CBX3	chr11:86666204-86666558	K562	blood:	n/a	n/a
13	CCNT2	chr11:86665709-86667655	K562	blood:	n/a	chr11:86667072-86667081 chr11:86665819-86665828 chr11:86665825-86665834
14	CEBPB	chr11:86666698-86667150	MCF-7	breast:	n/a	chr11:86666922-86666933
15	CEBPB	chr11:86666264-86667312	HepG2	liver:	n/a	chr11:86666922-86666933
16	CEBPB	chr11:86666725-86667326	HepG2	liver:	n/a	chr11:86666922-86666933
17	CEBPB	chr11:86666706-86667162	A549	lung:	n/a	chr11:86666922-86666933
18	CEBPB	chr11:86666725-86667358	K562	blood:	n/a	chr11:86666922-86666933
19	CEBPB	chr11:86665525-86665804	HepG2	liver:	n/a	n/a
20	CEBPB	chr11:86665510-86665811	IMR90	lung:	n/a	n/a
21	CEBPB	chr11:86666357-86666535	HepG2	liver:	n/a	n/a
22	CEBPB	chr11:86666382-86666391	HepG2	liver:	n/a	n/a
23	CEBPB	chr11:86665495-86665836	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr11:86665632-86665832	K562	blood:	n/a	n/a
25	CEBPB	chr11:86666619-86667309	K562	blood:	n/a	chr11:86666922-86666933
26	CEBPB	chr11:86666735-86667350	IMR90	lung:	n/a	chr11:86666922-86666933
27	CEBPB	chr11:86666846-86667181	HepG2	liver:	n/a	chr11:86666922-86666933
28	CEBPB	chr11:86666734-86667626	H1-hESC	embryonic stem cell:	n/a	chr11:86666922-86666933
29	CEBPB	chr11:86666688-86667415	Hela-S3	cervix:	n/a	chr11:86666922-86666933
30	CEBPB	chr11:86666759-86667280	A549	lung:	n/a	chr11:86666922-86666933
31	CEBPB	chr11:86666653-86667207	A549	lung:	n/a	chr11:86666922-86666933
32	CEBPB	chr11:86666642-86667388	ECC-1	luminal epithelium:	n/a	chr11:86666922-86666933
33	CEBPD	chr11:86666848-86667078	HepG2	liver:	n/a	n/a
34	CEBPD	chr11:86666268-86666538	HepG2	liver:	n/a	n/a
35	CEBPD	chr11:86666219-86667405	HepG2	liver:	n/a	n/a
36	CHD1	chr11:86667840-86667927	GM12878	blood:	n/a	n/a
37	CHD1	chr11:86666289-86666303	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr11:86665459-86665639	K562	blood:	n/a	n/a
39	CHD2	chr11:86667479-86667481	K562	blood:	n/a	n/a
40	CHD2	chr11:86666332-86666564	GM12878	blood:	n/a	chr11:86666535-86666545
41	CHD2	chr11:86666928-86667219	GM12878	blood:	n/a	chr11:86667070-86667080
42	CHD2	chr11:86666158-86667182	K562	blood:	n/a	chr11:86667070-86667080 chr11:86666535-86666545
43	CHD2	chr11:86665530-86667684	Hela-S3	cervix:	n/a	chr11:86667070-86667080 chr11:86666535-86666545
44	CHD2	chr11:86666254-86667301	HepG2	liver:	n/a	chr11:86667070-86667080 chr11:86666535-86666545
45	CHD2	chr11:86665624-86665778	HepG2	liver:	n/a	n/a
46	CHD2	chr11:86667632-86667701	GM12878	blood:	n/a	n/a
47	CHD2	chr11:86666316-86667577	H1-hESC	embryonic stem cell:	n/a	chr11:86667070-86667080 chr11:86666535-86666545
48	CHD2	chr11:86667508-86667702	HepG2	liver:	n/a	n/a
49	CHD2	chr11:86665785-86666109	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr11:86666199-86666641	H1-hESC	embryonic stem cell:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:86666372-86666422	GM12892	blood:	n/a
2	chr11:86665815-86665865	HAEpiC	amniotic membrane:	n/a
3	chr11:86666558-86666608	H1-hESC	embryonic stem cell:	embryo
4	chr11:86666851-86666901	SK-N-MC	brain:	n/a
5	chr11:86667258-86667308	GM12878	blood:	n/a
6	chr11:86666552-86666602	K562	blood:	n/a
7	chr11:86667258-86667308	A549	lung:	n/a
8	chr11:86667042-86667092	HL-60	blood:	n/a
9	chr11:86666558-86666608	BE2_C	brain:	n/a
10	chr11:86667375-86667425	SK-N-MC	brain:	n/a
11	chr11:86666558-86666608	HRCEpiC	kidney:	n/a
12	chr11:86666552-86666602	ProgFib	skin:	n/a
13	chr11:86667175-86667225	HUVEC	blood vessel:	n/a
14	chr11:86667258-86667308	CMK	blood:	n/a
15	chr11:86666307-86666357	MCF-7	breast:	n/a
16	chr11:86666552-86666602	HUVEC	blood vessel:	n/a
17	chr11:86666372-86666422	H1-hESC	embryonic stem cell:	embryo
18	chr11:86666307-86666357	NHBE	bronchial:	n/a
19	chr11:86667375-86667425	HRE	kidney:	n/a
20	chr11:86666558-86666608	HEK293	kidney:	embryo
21	chr11:86666558-86666608	A549	lung:	n/a
22	chr11:86666552-86666602	HCT-116	colon:	n/a
23	chr11:86666851-86666901	SAEC	small airway:	n/a
24	chr11:86667175-86667225	GM19239	blood:	n/a
25	chr11:86667149-86667199	MCF-7	breast:	n/a
26	chr11:86667375-86667425	RPTEC	kidney:	n/a
27	chr11:86667258-86667308	SK-N-SH	brain:	n/a
28	chr11:86667042-86667092	GM12891	blood:	n/a
29	chr11:86666000-86666050	AG09309	skin:	n/a
30	chr11:86667258-86667308	AG09319	gingival:	n/a
31	chr11:86666552-86666602	NT2-D1	testis:	n/a
32	chr11:86666307-86666357	ovcar-3	ovarian:	n/a
33	chr11:86667149-86667199	Hepatocyte	liver:	n/a
34	chr11:86667042-86667092	T-47D	breast:	n/a
35	chr11:86666000-86666050	HCF	heart:	n/a
36	chr11:86666558-86666608	GM12891	blood:	n/a
37	chr11:86667375-86667425	HRPEpiC	eye:	n/a
38	chr11:86666558-86666608	Hela-S3	cervix:	n/a
39	chr11:86667042-86667092	BE2_C	brain:	n/a
40	chr11:86667042-86667092	GM12892	blood:	n/a
41	chr11:86667042-86667092	Hepatocyte	liver:	n/a
42	chr11:86666307-86666357	CMK	blood:	n/a
43	chr11:86665815-86665865	SK-N-SH	brain:	n/a
44	chr11:86666558-86666608	IMR90	lung:	fetal
45	chr11:86666372-86666422	HCPEpiC	choroid plexus:	n/a
46	chr11:86666307-86666357	HEK293	kidney:	embryo
47	chr11:86667149-86667199	PFSK-1	brain:	n/a
48	chr11:86667375-86667425	GM12892	blood:	n/a
49	chr11:86667375-86667425	SK-N-SH_RA	brain:	n/a
50	chr11:86667042-86667092	AG09319	gingival:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86648192..86652740-chr11:86665562..86667953,4	K562	blood:
2	chr11:86649897..86655027-chr11:86664913..86668349,5	MCF-7	breast:
3	chr11:86664827..86670422-chr11:86747541..86750601,9	MCF-7	breast:
4	chr11:86651265..86655109-chr11:86664872..86666696,3	MCF-7	breast:
5	chr11:86666227..86667215-chr15:65588303..65589193,2	Hela-S3	cervix:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRSS23-1	chr11:86667133-86667302	ENSG00000246523
2	lnc-PRSS23-1	chr11:86666663-86666754	NR_038905
3	lnc-PRSS23-1	chr11:86667161-86667302	XLOC_009241
4	lnc-PRSS23-1	chr11:86667442-86667484	NONHSAT023509
5	lnc-PRSS23-1	chr11:86666754-86666754	ENSG00000246523
6	lnc-PRSS23-1	chr11:86666663-86666754	XLOC_009241
7	lnc-PRSS23-1	chr11:86666661-86666754	ENSG00000246523.3

No data

Variant related genes	Relation type
FZD4	TF binding region
ENSG00000246523	TF binding region
FZD4	CpG island
ENSG00000246523	CpG island
ENSG00000199568	chromatin interactions
ENSG00000166575	chromatin interactions
ENSG00000150687	chromatin interactions
PELI1	miRNA target sites
HARS	miRNA target sites

Extended variants
information (count: 114 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545446073	chr11:86665416-86665417	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs565560646	chr11:86665425-86665426	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs528005719	chr11:86665467-86665468	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs578240872	chr11:86665537-86665538	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs547979627	chr11:86665556-86665557	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs375174756	chr11:86665559-86665560	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs567848877	chr11:86665587-86665588	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs117822848	chr11:86665664-86665665	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs560240402	chr11:86665665-86665666	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs12806032	chr11:86665676-86665677	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs527794521	chr11:86665699-86665700	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs72963450	chr11:86665709-86665710	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs80174943	chr11:86665760-86665761	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs367580040	chr11:86665786-86665787	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs186342366	chr11:86665811-86665812	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs557348728	chr11:86665830-86665831	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs369356024	chr11:86665832-86665833	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs375124646	chr11:86665871-86665872	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs144293521	chr11:86665876-86665877	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs80358283	chr11:86665877-86665878	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs377527854	chr11:86665903-86665904	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs113577011	chr11:86665917-86665918	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs80358282	chr11:86665923-86665924	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs533839311	chr11:86665960-86665961	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs553511620	chr11:86665966-86665967	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs573770292	chr11:86665992-86665993	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs139401671	chr11:86666010-86666011	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs375213001	chr11:86666011-86666012	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs80358281	chr11:86666021-86666022	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs61735304	chr11:86666031-86666032	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150941414	chr11:86666035-86666036	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs140601725	chr11:86666052-86666053	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs369596520	chr11:86666078-86666079	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs373565387	chr11:86666080-86666081	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs113917021	chr11:86666081-86666082	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs532417375	chr11:86666139-86666140	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs372346926	chr11:86666193-86666194	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs527939713	chr11:86666212-86666213	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs541754009	chr11:86666251-86666252	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs544568108	chr11:86666257-86666258	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs530309354	chr11:86666285-86666286	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs550144999	chr11:86666326-86666327	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs568903306	chr11:86666389-86666390	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs531328250	chr11:86666429-86666430	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs550918541	chr11:86666432-86666433	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs570920994	chr11:86666436-86666437	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs533584251	chr11:86666442-86666443	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs547668271	chr11:86666453-86666454	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs567477010	chr11:86666460-86666461	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs536429568	chr11:86666461-86666462	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD

Chromatin state (count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86653200-86665800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:86657600-86665400	Weak transcription	Small Intestine	intestine
3	chr11:86661600-86665400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:86662600-86665400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:86663200-86665400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:86663200-86667800	Active TSS	Right Ventricle	heart
7	chr11:86663400-86667400	Active TSS	Fetal Brain Female	brain
8	chr11:86663400-86667400	Active TSS	Left Ventricle	heart
9	chr11:86663400-86667600	Active TSS	Right Atrium	heart
10	chr11:86663400-86668000	Active TSS	Fetal Kidney	kidney
11	chr11:86663600-86665400	Active TSS	Fetal Muscle Trunk	muscle
12	chr11:86663600-86665400	Active TSS	Lung	lung
13	chr11:86663600-86665400	Weak transcription	Spleen	Spleen
14	chr11:86663600-86666000	Active TSS	Stomach Smooth Muscle	stomach
15	chr11:86663600-86667400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:86663600-86667400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:86663600-86667600	Active TSS	Psoas Muscle	Psoas
18	chr11:86663600-86667600	Active TSS	Rectal Smooth Muscle	rectum
19	chr11:86663600-86667800	Active TSS	Colon Smooth Muscle	Colon
20	chr11:86663600-86667800	Active TSS	Ovary	ovary
21	chr11:86663600-86668000	Active TSS	Aorta	Aorta
22	chr11:86663800-86665600	Active TSS	Adipose Nuclei	Adipose
23	chr11:86663800-86667400	Active TSS	Fetal Stomach	stomach
24	chr11:86664000-86665400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:86664000-86665800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:86664000-86665800	Active TSS	Colonic Mucosa	Colon
27	chr11:86664000-86666200	Flanking Active TSS	Liver	Liver
28	chr11:86664000-86667800	Active TSS	Brain Anterior Caudate	brain
29	chr11:86664000-86667800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:86664200-86665400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:86664200-86666800	Active TSS	HUVEC	blood vessel
32	chr11:86664200-86667600	Active TSS	Brain Substantia Nigra	brain
33	chr11:86664200-86667600	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr11:86664200-86667800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr11:86664200-86667800	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr11:86664400-86667400	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr11:86664400-86667800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:86664600-86665400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr11:86664800-86665400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:86664800-86665400	Active TSS	Pancreas	Pancrea
41	chr11:86664800-86666000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr11:86664800-86666200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr11:86664800-86667400	Active TSS	Esophagus	oesophagus
44	chr11:86665000-86666200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr11:86665200-86665400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:86665200-86665400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:86665200-86665400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:86665200-86665400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:86665200-86665400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:86665200-86665400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

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