Variant report

Variant	esv21011
Chromosome Location	chr13:95363104-95365838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:253)
CpG islands
(count:1099)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr13:95364963-95365163	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr13:95365386-95365631	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr13:95363239-95363779	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr13:95363443-95364180	K562	blood:	n/a	n/a
5	BRCA1	chr13:95363287-95363527	H1-hESC	embryonic stem cell:	n/a	n/a
6	CCNT2	chr13:95363432-95363803	K562	blood:	n/a	n/a
7	CHD1	chr13:95364035-95364316	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr13:95363253-95363620	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr13:95364549-95365677	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr13:95365216-95365218	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr13:95363234-95363250	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr13:95363413-95363668	A549	lung:	n/a	n/a
13	CTBP2	chr13:95363183-95366208	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr13:95363120-95363270	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr13:95363500-95363650	GM12865	blood:	n/a	n/a
16	CTCF	chr13:95363500-95363650	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr13:95363500-95363650	GM12864	blood:	n/a	n/a
18	CTCF	chr13:95363520-95363670	HL-60	blood:	n/a	n/a
19	CTCF	chr13:95363505-95363773	GM19238	blood:	n/a	n/a
20	CTCF	chr13:95363500-95363650	K562	blood:	n/a	n/a
21	CTCF	chr13:95363545-95363764	GM12891	blood:	n/a	n/a
22	CTCF	chr13:95363540-95363690	GM12867	blood:	n/a	n/a
23	CTCF	chr13:95363480-95363630	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr13:95363303-95363306	GM12892	blood:	n/a	n/a
25	CTCF	chr13:95363554-95363648	GM19239	blood:	n/a	n/a
26	CTCF	chr13:95363240-95363390	GM12871	blood:	n/a	n/a
27	CTCF	chr13:95363500-95363650	BE2_C	brain:	n/a	n/a
28	CTCF	chr13:95365300-95365450	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr13:95363363-95363407	GM13977	blood:	n/a	n/a
30	CTCF	chr13:95363500-95363650	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr13:95365269-95365314	Gliobla	brain:	n/a	n/a
32	CTCF	chr13:95365260-95365410	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr13:95363571-95363753	ProgFib	skin:	n/a	n/a
34	CTCF	chr13:95365120-95365270	AG04449	skin:	n/a	n/a
35	CTCF	chr13:95363540-95363690	HepG2	liver:	n/a	n/a
36	CTCF	chr13:95363599-95363730	LNCaP	prostate:	n/a	n/a
37	CTCF	chr13:95363360-95363650	GM12866	blood:	n/a	n/a
38	CTCF	chr13:95363554-95363740	LNCaP	prostate:	n/a	n/a
39	CTCF	chr13:95363380-95363530	HRE	kidney:	n/a	n/a
40	CTCF	chr13:95363460-95363610	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr13:95365292-95365300	Fibrobl	skin:	n/a	n/a
42	CTCF	chr13:95363308-95363426	GM12892	blood:	n/a	n/a
43	CTCF	chr13:95363496-95363794	K562	blood:	n/a	n/a
44	CTCF	chr13:95363520-95363670	AG09309	skin:	n/a	n/a
45	CTCF	chr13:95363480-95363630	HEK293	kidney:	n/a	n/a
46	CTCF	chr13:95363460-95363610	GM12864	blood:	n/a	n/a
47	CTCF	chr13:95363520-95363670	GM12869	blood:	n/a	n/a
48	CTCF	chr13:95363293-95363757	NHEK	skin:	n/a	n/a
49	CTCF	chr13:95363480-95363630	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr13:95363332-95363774	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:95364586-95364636	SKMC	muscle:	n/a
2	chr13:95364586-95364636	SKMC	muscle:	n/a
3	chr13:95364569-95364619	HIPEpiC	eye:	n/a
4	chr13:95364510-95364560	PrEC	prostate:	n/a
5	chr13:95363811-95363861	HCPEpiC	choroid plexus:	n/a
6	chr13:95365509-95365559	NH-A	brain:	n/a
7	chr13:95363811-95363861	HMEC	breast:	n/a
8	chr13:95363811-95363861	GM12892	blood:	n/a
9	chr13:95364510-95364560	Hepatocyte	liver:	n/a
10	chr13:95364928-95364978	NH-A	brain:	n/a
11	chr13:95364510-95364560	CMK	blood:	n/a
12	chr13:95364569-95364619	IMR90	lung:	fetal
13	chr13:95364908-95364958	AG04449	skin:	fetal
14	chr13:95364928-95364978	U87	brain:	n/a
15	chr13:95364633-95364683	PrEC	prostate:	n/a
16	chr13:95364993-95365043	ProgFib	skin:	n/a
17	chr13:95365673-95365723	LNCaP	prostate:	n/a
18	chr13:95364586-95364636	HRPEpiC	eye:	n/a
19	chr13:95364675-95364725	HCT-116	colon:	n/a
20	chr13:95364915-95364965	SK-N-SH	brain:	n/a
21	chr13:95365673-95365723	SK-N-SH_RA	brain:	n/a
22	chr13:95364928-95364978	A549	lung:	n/a
23	chr13:95364514-95364564	HMEC	breast:	n/a
24	chr13:95364062-95364112	PFSK-1	brain:	n/a
25	chr13:95364921-95364971	HNPCEpiC	eye:	n/a
26	chr13:95364908-95364958	GM06990	blood:	n/a
27	chr13:95364915-95364965	H1-hESC	embryonic stem cell:	embryo
28	chr13:95363371-95363421	AG09319	gingival:	n/a
29	chr13:95365673-95365723	NH-A	brain:	n/a
30	chr13:95364569-95364619	HCF	heart:	n/a
31	chr13:95364062-95364112	HCF	heart:	n/a
32	chr13:95364062-95364112	SKMC	muscle:	n/a
33	chr13:95364586-95364636	GM06990	blood:	n/a
34	chr13:95364915-95364965	K562	blood:	n/a
35	chr13:95364586-95364636	ProgFib	skin:	n/a
36	chr13:95364921-95364971	H1-hESC	embryonic stem cell:	embryo
37	chr13:95364675-95364725	AG04449	skin:	fetal
38	chr13:95363371-95363421	HL-60	blood:	n/a
39	chr13:95364569-95364619	RPTEC	kidney:	n/a
40	chr13:95364569-95364619	HNPCEpiC	eye:	n/a
41	chr13:95363755-95363805	NB4	blood:	n/a
42	chr13:95364514-95364564	HL-60	blood:	n/a
43	chr13:95363755-95363805	HIPEpiC	eye:	n/a
44	chr13:95364993-95365043	PrEC	prostate:	n/a
45	chr13:95364675-95364725	CMK	blood:	n/a
46	chr13:95364586-95364636	NHDF-neo	bronchial:	n/a
47	chr13:95363371-95363421	ovcar-3	ovarian:	n/a
48	chr13:95364915-95364965	Hepatocyte	liver:	n/a
49	chr13:95365509-95365559	BJ	skin:	n/a
50	chr13:95364928-95364978	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr13:95359884..95364398-chr13:95364758..95367708,4	MCF-7	breast:
2	chr13:95363939..95364459-chr9:139760451..139760979,2	MCF-7	breast:
3	chr13:95357906..95359959-chr13:95361552..95364059,2	MCF-7	breast:
4	chr13:95355528..95357274-chr13:95361498..95363560,2	K562	blood:
5	chr13:95359884..95364398-chr13:95364758..95367708,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR180-1	chr13:95364970-95365647	NR_046514
2	lnc-GPR180-1	chr13:95364970-95365647	XLOC_010472
3	lnc-GPR180-1	chr13:95364970-95365647	ENSG00000227640.2

No data

Variant related genes	Relation type
SOX21-AS1	TF binding region
SOX21	TF binding region
SOX21-AS1	CpG island
SOX21	CpG island
ENSG00000107223	chromatin interactions
ENSG00000227640	chromatin interactions
ENSG00000125285	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184622368	chr13:95363144-95363145	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs558173233	chr13:95363166-95363167	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552748335	chr13:95363200-95363201	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs565064177	chr13:95363216-95363217	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs577565671	chr13:95363248-95363249	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536680654	chr13:95363304-95363305	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs374600006	chr13:95363320-95363321	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549320862	chr13:95363335-95363336	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573370729	chr13:95363352-95363353	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs542330190	chr13:95363472-95363473	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs559080603	chr13:95363524-95363525	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs572954698	chr13:95363555-95363556	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs545283160	chr13:95363581-95363582	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs6492735	chr13:95363617-95363618	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187532628	chr13:95363659-95363660	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533347331	chr13:95363743-95363744	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs550228217	chr13:95363813-95363814	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs9556411	chr13:95363884-95363885	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs529375034	chr13:95363891-95363892	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs151073656	chr13:95363993-95363994	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs140988549	chr13:95364031-95364032	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs1060474	chr13:95364046-95364047	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376668908	chr13:95364132-95364133	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs201165035	chr13:95364139-95364140	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs112443365	chr13:95364172-95364173	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs369089208	chr13:95364271-95364272	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs371201022	chr13:95364295-95364296	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs565901071	chr13:95364307-95364308	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs372694947	chr13:95364309-95364310	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs376963859	chr13:95364312-95364313	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs2253604	chr13:95364337-95364338	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs374564780	chr13:95364348-95364349	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs368374709	chr13:95364350-95364351	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs370653019	chr13:95364352-95364353	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs537368323	chr13:95364356-95364357	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs556501481	chr13:95364360-95364361	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs566933282	chr13:95364386-95364387	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs535897216	chr13:95364422-95364423	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs552696035	chr13:95364479-95364480	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs34473201	chr13:95364532-95364533	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
41	rs572982778	chr13:95364537-95364538	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
42	rs544911228	chr13:95364647-95364648	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
43	rs558793967	chr13:95364650-95364651	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
44	rs575421624	chr13:95364678-95364679	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
45	rs113884382	chr13:95364752-95364753	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs546258366	chr13:95364776-95364777	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs118036266	chr13:95364805-95364806	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs563636104	chr13:95364817-95364818	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs370452541	chr13:95364898-95364899	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs371301783	chr13:95364917-95364918	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 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:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95358800-95366200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr13:95359000-95368000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:95359200-95366600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:95359600-95366000	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr13:95359600-95366400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:95360000-95364000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:95360400-95363200	Active TSS	Brain Germinal Matrix	brain
8	chr13:95360800-95363600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:95361000-95363600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:95361400-95363200	Active TSS	Fetal Brain Female	brain
11	chr13:95361800-95363600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
12	chr13:95361800-95366000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr13:95362200-95366000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr13:95362400-95363200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr13:95362400-95363200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:95362400-95366200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr13:95362400-95366200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr13:95362400-95366600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
19	chr13:95362400-95366800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
20	chr13:95362600-95363200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
21	chr13:95362600-95363200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
22	chr13:95362600-95363200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr13:95362600-95363200	Bivalent/Poised TSS	Fetal Stomach	stomach
24	chr13:95362600-95363400	Bivalent Enhancer	Fetal Heart	heart
25	chr13:95362600-95364000	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr13:95362600-95364000	Bivalent/Poised TSS	NH-A	brain
27	chr13:95362600-95364800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr13:95362600-95365200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr13:95362600-95366200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr13:95362600-95366200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
31	chr13:95362600-95366400	Active TSS	Brain Substantia Nigra	brain
32	chr13:95362800-95363200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr13:95362800-95363200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr13:95362800-95363200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
35	chr13:95362800-95363200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr13:95362800-95363200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:95362800-95363200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
38	chr13:95362800-95363200	Bivalent/Poised TSS	Esophagus	oesophagus
39	chr13:95362800-95363200	Bivalent Enhancer	Fetal Kidney	kidney
40	chr13:95362800-95363200	Bivalent Enhancer	Fetal Thymus	thymus
41	chr13:95362800-95363200	Bivalent Enhancer	Ovary	ovary
42	chr13:95362800-95363200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
43	chr13:95362800-95363200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
44	chr13:95362800-95363200	Bivalent/Poised TSS	Right Ventricle	heart
45	chr13:95362800-95363200	Bivalent/Poised TSS	Thymus	Thymus
46	chr13:95362800-95363400	Bivalent Enhancer	Adipose Nuclei	Adipose
47	chr13:95362800-95363400	Bivalent Enhancer	Liver	Liver
48	chr13:95362800-95363400	Bivalent Enhancer	Fetal Intestine Large	intestine
49	chr13:95362800-95363400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
50	chr13:95362800-95363600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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