Variant report

Variant	esv1824604
Chromosome Location	chr13:95357807-95365771
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:330)
CpG islands
(count:2260)
Chromatin interactive
region (count:8)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr13:95363239-95363779	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr13:95359027-95360743	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr13:95365386-95365631	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr13:95357752-95358407	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr13:95358881-95359055	K562	blood:	n/a	n/a
6	BACH1	chr13:95364963-95365163	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr13:95363443-95364180	K562	blood:	n/a	n/a
8	BRCA1	chr13:95363287-95363527	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr13:95360542-95361015	H1-hESC	embryonic stem cell:	n/a	n/a
10	CCNT2	chr13:95363432-95363803	K562	blood:	n/a	n/a
11	CEBPB	chr13:95362265-95362572	IMR90	lung:	n/a	n/a
12	CEBPB	chr13:95359916-95360279	H1-hESC	embryonic stem cell:	n/a	chr13:95360112-95360123
13	CEBPB	chr13:95362284-95362574	HepG2	liver:	n/a	n/a
14	CEBPB	chr13:95359962-95360129	HepG2	liver:	n/a	chr13:95360112-95360123
15	CEBPB	chr13:95362298-95362584	A549	lung:	n/a	n/a
16	CEBPB	chr13:95362281-95362539	K562	blood:	n/a	n/a
17	CEBPB	chr13:95359982-95360283	K562	blood:	n/a	chr13:95360112-95360123
18	CHD1	chr13:95359104-95359590	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr13:95364549-95365677	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr13:95362173-95363002	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr13:95360550-95360979	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr13:95361345-95361755	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr13:95364035-95364316	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr13:95360092-95360266	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr13:95363253-95363620	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr13:95360056-95360058	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr13:95363234-95363250	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr13:95365216-95365218	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr13:95363413-95363668	A549	lung:	n/a	n/a
30	CTBP2	chr13:95359526-95360034	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTBP2	chr13:95360393-95360838	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTBP2	chr13:95363183-95366208	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr13:95365277-95365430	MCF-7	breast:	n/a	n/a
34	CTCF	chr13:95363460-95363610	GM12864	blood:	n/a	n/a
35	CTCF	chr13:95365259-95365361	MCF-7	breast:	n/a	n/a
36	CTCF	chr13:95363520-95363670	AG09309	skin:	n/a	n/a
37	CTCF	chr13:95363525-95363761	GM13977	blood:	n/a	n/a
38	CTCF	chr13:95363591-95363651	Gliobla	brain:	n/a	n/a
39	CTCF	chr13:95363540-95363690	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr13:95363600-95363750	GM12875	blood:	n/a	n/a
41	CTCF	chr13:95363500-95363650	HCM	heart:	n/a	n/a
42	CTCF	chr13:95363580-95363730	AG04449	skin:	n/a	n/a
43	CTCF	chr13:95363306-95363454	GM12891	blood:	n/a	n/a
44	CTCF	chr13:95363480-95363630	AG10803	skin:	n/a	n/a
45	CTCF	chr13:95363540-95363690	GM12867	blood:	n/a	n/a
46	CTCF	chr13:95363083-95364212	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr13:95363500-95363650	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr13:95363520-95363670	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chr13:95363505-95363773	GM19238	blood:	n/a	n/a
50	CTCF	chr13:95363571-95363753	ProgFib	skin:	n/a	n/a

(count:2260 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:95364062-95364112	HRE	kidney:	n/a
2	chr13:95365673-95365723	AG09319	gingival:	n/a
3	chr13:95364921-95364971	ProgFib	skin:	n/a
4	chr13:95364062-95364112	HRE	kidney:	n/a
5	chr13:95365673-95365723	AG09319	gingival:	n/a
6	chr13:95364921-95364971	ProgFib	skin:	n/a
7	chr13:95357818-95357868	U87	brain:	n/a
8	chr13:95364928-95364978	RPTEC	kidney:	n/a
9	chr13:95359162-95359212	Caco-2	colon:	n/a
10	chr13:95364510-95364560	A549	lung:	n/a
11	chr13:95364928-95364978	HMEC	breast:	n/a
12	chr13:95364993-95365043	GM06990	blood:	n/a
13	chr13:95365673-95365723	NB4	blood:	n/a
14	chr13:95363755-95363805	BJ	skin:	n/a
15	chr13:95364062-95364112	U87	brain:	n/a
16	chr13:95358476-95358526	HL-60	blood:	n/a
17	chr13:95358924-95358974	GM06990	blood:	n/a
18	chr13:95362829-95362879	HepG2	liver:	n/a
19	chr13:95363811-95363861	SKMC	muscle:	n/a
20	chr13:95363007-95363057	AG04449	skin:	fetal
21	chr13:95358924-95358974	NB4	blood:	n/a
22	chr13:95358205-95358255	NHDF-neo	bronchial:	n/a
23	chr13:95360542-95360592	NT2-D1	testis:	n/a
24	chr13:95364062-95364112	CMK	blood:	n/a
25	chr13:95364586-95364636	A549	lung:	n/a
26	chr13:95360542-95360592	AG09309	skin:	n/a
27	chr13:95359162-95359212	HPAEpiC	pulmonary alveolar:	n/a
28	chr13:95358151-95358201	Caco-2	colon:	n/a
29	chr13:95365673-95365723	HL-60	blood:	n/a
30	chr13:95363755-95363805	PFSK-1	brain:	n/a
31	chr13:95364510-95364560	SK-N-SH_RA	brain:	n/a
32	chr13:95358498-95358548	NHDF-neo	bronchial:	n/a
33	chr13:95364921-95364971	NT2-D1	testis:	n/a
34	chr13:95363007-95363057	GM12892	blood:	n/a
35	chr13:95365673-95365723	HEK293	kidney:	embryo
36	chr13:95359666-95359716	ProgFib	skin:	n/a
37	chr13:95358151-95358201	PANC-1	pancreas:	n/a
38	chr13:95363755-95363805	T-47D	breast:	n/a
39	chr13:95359974-95360024	NHBE	bronchial:	n/a
40	chr13:95362829-95362879	BE2_C	brain:	n/a
41	chr13:95359974-95360024	AG04449	skin:	fetal
42	chr13:95358151-95358201	GM12878	blood:	n/a
43	chr13:95358924-95358974	T-47D	breast:	n/a
44	chr13:95365509-95365559	SKMC	muscle:	n/a
45	chr13:95364569-95364619	ECC-1	luminal epithelium:	n/a
46	chr13:95360278-95360328	HepG2	liver:	n/a
47	chr13:95364915-95364965	PrEC	prostate:	n/a
48	chr13:95364062-95364112	ovcar-3	ovarian:	n/a
49	chr13:95363755-95363805	NB4	blood:	n/a
50	chr13:95364993-95365043	HRCEpiC	kidney:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:95325863..95327596-chr13:95357586..95359779,2	MCF-7	breast:
2	chr13:95359884..95364398-chr13:95364758..95367708,4	MCF-7	breast:
3	chr13:95354749..95357417-chr13:95358781..95361227,3	MCF-7	breast:
4	chr13:95357906..95359959-chr13:95361552..95364059,2	MCF-7	breast:
5	chr13:95357906..95359959-chr13:95361552..95364059,2	MCF-7	breast:
6	chr13:95359884..95364398-chr13:95364758..95367708,4	MCF-7	breast:
7	chr13:95363939..95364459-chr9:139760451..139760979,2	MCF-7	breast:
8	chr13:95355528..95357274-chr13:95361498..95363560,2	K562	blood:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR180-1	chr13:95364970-95365647	NR_046514
2	lnc-SOX21-1	chr13:95358391-95358684	NONHSAT034737
3	lnc-SOX21-1	chr13:95358391-95358541	ENSG00000248922
4	lnc-GPR180-1	chr13:95364970-95365647	XLOC_010472
5	lnc-SOX21-1	chr13:95358391-95358541	NONHSAT034735
6	lnc-SOX21-1	chr13:95359725-95360750	ENSG00000248922
7	lnc-GPR180-1	chr13:95364970-95365647	ENSG00000227640.2
8	lnc-SOX21-1	chr13:95357743-95358211	NONHSAT034737
9	lnc-SOX21-1	chr13:95358391-95359564	XLOC_010695
10	lnc-SOX21-1	chr13:95358051-95358187	NONHSAT034736
11	lnc-SOX21-1	chr13:95357000-95358211	ENSG00000248922
12	lnc-SOX21-1	chr13:95357954-95358215	XLOC_010695
13	lnc-SOX21-1	chr13:95357013-95357970	NONHSAT034736
14	lnc-SOX21-1	chr13:95356998-95358211	NONHSAT034735
15	lnc-SOX21-1	chr13:95359725-95360733	NONHSAT034735

No data

Variant related genes	Relation type
LINC00391	TF binding region
SOX21-AS1	TF binding region
SOX21	TF binding region
LINC00391	CpG island
SOX21-AS1	CpG island
SOX21	CpG island
ENSG00000125285	chromatin interactions
ENSG00000227640	chromatin interactions
ENSG00000107223	chromatin interactions
ENSG00000238230	chromatin interactions
GPR137C	miRNA target sites

Extended variants
information (count: 237 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7332548	chr13:95357807-95357808	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78668597	chr13:95357845-95357846	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs530237605	chr13:95357863-95357864	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs546888554	chr13:95357867-95357868	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs148360667	chr13:95357889-95357890	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs143204456	chr13:95357898-95357899	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs551915739	chr13:95357915-95357916	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs147176216	chr13:95357961-95357962	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs79824317	chr13:95358020-95358021	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs115848681	chr13:95358073-95358074	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs568257744	chr13:95358078-95358079	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs10574322	chr13:95358132-95358133	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs564343982	chr13:95358136-95358137	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs184201056	chr13:95358254-95358255	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs554090876	chr13:95358278-95358279	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs189907341	chr13:95358302-95358303	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs556733970	chr13:95358322-95358323	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs3831033	chr13:95358323-95358324	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs200938230	chr13:95358325-95358326	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs398117762	chr13:95358326-95358327	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs56664185	chr13:95358331-95358332	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs397774743	chr13:95358347-95358348	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs541436874	chr13:95358348-95358349	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs369322277	chr13:95358351-95358352	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs535872325	chr13:95358366-95358367	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs58391484	chr13:95358418-95358419	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs112448391	chr13:95358448-95358449	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs561096276	chr13:95358470-95358471	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs569812652	chr13:95358474-95358475	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs574685097	chr13:95358476-95358477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs540460618	chr13:95358525-95358526	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs181146028	chr13:95358537-95358538	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs142711496	chr13:95358572-95358573	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs184439166	chr13:95358597-95358598	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs562298515	chr13:95358642-95358643	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs113473738	chr13:95358758-95358759	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs3831034	chr13:95358759-95358760	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs556628907	chr13:95358760-95358761	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs398037778	chr13:95358772-95358773	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs397795056	chr13:95358773-95358774	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs10692927	chr13:95358774-95358775	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs531382882	chr13:95358939-95358940	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs548297631	chr13:95358952-95358953	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs529339979	chr13:95358962-95358963	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs568192702	chr13:95358990-95358991	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs533950881	chr13:95358998-95358999	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs117055410	chr13:95359027-95359028	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs188922263	chr13:95359040-95359041	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs539315905	chr13:95359067-95359068	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs556428145	chr13:95359174-95359175	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:654 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95353800-95358000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr13:95354600-95358600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr13:95355800-95359600	Weak transcription	Pancreas	Pancrea
4	chr13:95356400-95358600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:95356800-95358000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr13:95357200-95358000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:95357200-95358000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:95357200-95358000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:95357200-95358400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:95357200-95359600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr13:95357400-95358000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr13:95357400-95358000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr13:95357400-95358200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:95357400-95358400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr13:95357600-95358000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:95357600-95358000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:95357600-95358000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:95357600-95358000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
19	chr13:95357600-95358000	Bivalent Enhancer	Spleen	Spleen
20	chr13:95357600-95358200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
21	chr13:95357600-95358200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:95357600-95360800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:95357800-95358000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr13:95357800-95358000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
25	chr13:95357800-95358000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr13:95357800-95358000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:95357800-95358200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
28	chr13:95357800-95359600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr13:95358000-95358200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
30	chr13:95358000-95358200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
31	chr13:95358000-95358400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
32	chr13:95358000-95358400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:95358000-95358600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr13:95358000-95358600	Bivalent Enhancer	Brain Anterior Caudate	brain
35	chr13:95358200-95358400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr13:95358200-95358400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:95358200-95358400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr13:95358200-95358400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr13:95358200-95358400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:95358200-95358400	Bivalent Enhancer	Brain Hippocampus Middle	brain
41	chr13:95358200-95358600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr13:95358200-95358600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr13:95358400-95358600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr13:95358400-95358600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
45	chr13:95358400-95358600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
46	chr13:95358400-95358600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
47	chr13:95358400-95358600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr13:95358400-95358800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:95358400-95358800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:95358400-95358800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

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