Variant report

Variant	nsv1029757
Chromosome Location	chr7:70061656-70190100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1693)
CpG islands
(count:1832)
Chromatin interactive
region (count:20)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1693 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:70163321-70163538	K562	blood:	n/a	n/a
2	ARID3A	chr7:70102162-70102182	K562	blood:	n/a	n/a
3	ATF1	chr7:70091841-70091986	K562	blood:	n/a	n/a
4	ATF2	chr7:70113044-70113441	GM12878	blood:	n/a	n/a
5	ATF2	chr7:70182931-70183279	GM12878	blood:	n/a	n/a
6	ATF2	chr7:70163149-70163641	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr7:70161308-70161791	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr7:70164867-70165954	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr7:70164947-70166179	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr7:70133624-70133911	GM12878	blood:	n/a	n/a
11	ATF2	chr7:70158188-70158571	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr7:70159737-70160179	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr7:70181519-70181861	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr7:70064701-70064711	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr7:70145962-70146088	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr7:70061335-70061723	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr7:70171826-70171998	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr7:70084144-70084459	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr7:70113183-70113442	GM12878	blood:	n/a	n/a
20	BATF	chr7:70128646-70129082	GM12878	blood:	n/a	n/a
21	BATF	chr7:70175177-70175456	GM12878	blood:	n/a	chr7:70175301-70175311 chr7:70175300-70175311
22	BATF	chr7:70146926-70147314	GM12878	blood:	n/a	n/a
23	BATF	chr7:70144546-70144968	GM12878	blood:	n/a	n/a
24	BATF	chr7:70144538-70144907	GM12878	blood:	n/a	n/a
25	BATF	chr7:70128632-70129069	GM12878	blood:	n/a	n/a
26	BATF	chr7:70175130-70175457	GM12878	blood:	n/a	chr7:70175301-70175311 chr7:70175300-70175311 chr7:70175171-70175180
27	BCL11A	chr7:70128594-70129058	GM12878	blood:	n/a	n/a
28	BCL11A	chr7:70113093-70113397	GM12878	blood:	n/a	n/a
29	BCL11A	chr7:70128600-70129082	GM12878	blood:	n/a	n/a
30	BCL11A	chr7:70110801-70111113	GM12878	blood:	n/a	n/a
31	BCL11A	chr7:70165146-70165623	H1-hESC	embryonic stem cell:	n/a	n/a
32	BCL11A	chr7:70165263-70165600	H1-hESC	embryonic stem cell:	n/a	n/a
33	BHLHE40	chr7:70128509-70129192	GM12878	blood:	n/a	chr7:70128654-70128675
34	BHLHE40	chr7:70175191-70175547	GM12878	blood:	n/a	n/a
35	BHLHE40	chr7:70146929-70147278	GM12878	blood:	n/a	n/a
36	BHLHE40	chr7:70158734-70159179	GM12878	blood:	n/a	chr7:70159147-70159163
37	BHLHE40	chr7:70113074-70113557	GM12878	blood:	n/a	n/a
38	BHLHE40	chr7:70163292-70163553	K562	blood:	n/a	n/a
39	BHLHE40	chr7:70079192-70079569	GM12878	blood:	n/a	n/a
40	BHLHE40	chr7:70160128-70160685	GM12878	blood:	n/a	chr7:70160375-70160391
41	BHLHE40	chr7:70110741-70111166	GM12878	blood:	n/a	n/a
42	BHLHE40	chr7:70163235-70163633	GM12878	blood:	n/a	n/a
43	BHLHE40	chr7:70133463-70133982	GM12878	blood:	n/a	n/a
44	BRCA1	chr7:70165059-70165724	H1-hESC	embryonic stem cell:	n/a	n/a
45	BRCA1	chr7:70162537-70162717	H1-hESC	embryonic stem cell:	n/a	n/a
46	BRCA1	chr7:70160153-70160203	GM12878	blood:	n/a	n/a
47	CBX3	chr7:70100680-70100894	K562	blood:	n/a	n/a
48	CEBPB	chr7:70157364-70157603	HepG2	liver:	n/a	n/a
49	CEBPB	chr7:70164574-70164834	HepG2	liver:	n/a	chr7:70164703-70164714 chr7:70164675-70164688 chr7:70164703-70164716 chr7:70164675-70164686
50	CEBPB	chr7:70063841-70064393	MCF-7	breast:	n/a	chr7:70063896-70063909 chr7:70064112-70064123 chr7:70064112-70064125 chr7:70064114-70064123

(count:1832 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:70096791-70096841	HRE	kidney:	n/a
2	chr7:70096791-70096841	HPAEpiC	pulmonary alveolar:	n/a
3	chr7:70096791-70096841	HRE	kidney:	n/a
4	chr7:70096791-70096841	HPAEpiC	pulmonary alveolar:	n/a
5	chr7:70170620-70170670	AG04449	skin:	fetal
6	chr7:70061616-70061666	T-47D	breast:	n/a
7	chr7:70163455-70163505	H1-hESC	embryonic stem cell:	embryo
8	chr7:70160734-70160784	MCF-7	breast:	n/a
9	chr7:70157145-70157195	HNPCEpiC	eye:	n/a
10	chr7:70158761-70158811	NB4	blood:	n/a
11	chr7:70159330-70159380	Caco-2	colon:	n/a
12	chr7:70111180-70111230	GM12892	blood:	n/a
13	chr7:70159215-70159265	MCF-7	breast:	n/a
14	chr7:70159330-70159380	HEK293	kidney:	embryo
15	chr7:70160006-70160056	BE2_C	brain:	n/a
16	chr7:70172515-70172565	SK-N-SH_RA	brain:	n/a
17	chr7:70165515-70165565	Caco-2	colon:	n/a
18	chr7:70061616-70061666	LNCaP	prostate:	n/a
19	chr7:70160006-70160056	HEK293	kidney:	embryo
20	chr7:70163455-70163505	PANC-1	pancreas:	n/a
21	chr7:70160734-70160784	LNCaP	prostate:	n/a
22	chr7:70061616-70061666	Caco-2	colon:	n/a
23	chr7:70146354-70146404	SK-N-SH	brain:	n/a
24	chr7:70157145-70157195	NT2-D1	testis:	n/a
25	chr7:70111180-70111230	PANC-1	pancreas:	n/a
26	chr7:70139561-70139611	PFSK-1	brain:	n/a
27	chr7:70160734-70160784	HEK293	kidney:	embryo
28	chr7:70158761-70158811	H1-hESC	embryonic stem cell:	embryo
29	chr7:70159215-70159265	SK-N-SH_RA	brain:	n/a
30	chr7:70061616-70061666	NHDF-neo	bronchial:	n/a
31	chr7:70157145-70157195	HAEpiC	amniotic membrane:	n/a
32	chr7:70065373-70065423	AG09319	gingival:	n/a
33	chr7:70165515-70165565	HepG2	liver:	n/a
34	chr7:70159340-70159390	AG10803	skin:	n/a
35	chr7:70160498-70160548	AG04449	skin:	fetal
36	chr7:70096029-70096079	MCF-7	breast:	n/a
37	chr7:70102632-70102682	PrEC	prostate:	n/a
38	chr7:70175567-70175617	HL-60	blood:	n/a
39	chr7:70102632-70102682	Jurkat	blood:	n/a
40	chr7:70156755-70156805	HEK293	kidney:	embryo
41	chr7:70159330-70159380	AG09309	skin:	n/a
42	chr7:70078742-70078792	PrEC	prostate:	n/a
43	chr7:70139561-70139611	HepG2	liver:	n/a
44	chr7:70159340-70159390	AG04449	skin:	fetal
45	chr7:70160006-70160056	GM12892	blood:	n/a
46	chr7:70175567-70175617	HMEC	breast:	n/a
47	chr7:70065373-70065423	HRCEpiC	kidney:	n/a
48	chr7:70096791-70096841	LNCaP	prostate:	n/a
49	chr7:70096029-70096079	NH-A	brain:	n/a
50	chr7:70159215-70159265	NHBE	bronchial:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:70069205..70071813-chr7:70077445..70079383,2	K562	blood:
2	chr7:70175580..70177405-chr7:70179545..70181681,2	MCF-7	breast:
3	chr7:70069205..70071813-chr7:70077445..70079383,2	K562	blood:
4	chr7:70174321..70176691-chr7:70186792..70188789,2	MCF-7	breast:
5	chr7:70084622..70086291-chr7:70088234..70089854,2	K562	blood:
6	chr7:70133847..70137058-chr7:70140413..70143195,3	K562	blood:
7	chr7:70157686..70159380-chr7:70159994..70162274,2	MCF-7	breast:
8	chr7:70084622..70086291-chr7:70088234..70089854,2	K562	blood:
9	chr7:70175580..70177405-chr7:70179545..70181681,2	MCF-7	breast:
10	chr7:70184183..70185798-chr7:70197589..70200298,2	MCF-7	breast:
11	chr7:70157686..70159380-chr7:70159994..70162274,2	MCF-7	breast:
12	chr7:70049785..70050737-chr7:70162923..70163511,2	MCF-7	breast:
13	chr7:70116058..70119019-chr7:70120958..70123553,2	K562	blood:
14	chr7:70092147..70095006-chr7:70098737..70101187,2	K562	blood:
15	chr7:70133847..70137058-chr7:70140413..70143195,3	K562	blood:
16	chr7:70182197..70184832-chr7:70191535..70193515,2	MCF-7	breast:
17	chr7:70174321..70176691-chr7:70186792..70188789,2	MCF-7	breast:
18	chr7:70116058..70119019-chr7:70120958..70123553,2	K562	blood:
19	chr7:70092147..70095006-chr7:70098737..70101187,2	K562	blood:
20	chr7:69507259..69508393-chr7:70162935..70163782,5	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WBSCR17-3	chr7:70159859-70160031	NONHSAT121336
2	lnc-CALN1-4	chr7:70083180-70083205	NONHSAT121334
3	lnc-CALN1-4	chr7:70085301-70085806	NONHSAT121334
4	lnc-WBSCR17-3	chr7:70163555-70164476	NONHSAT121336

No data

Variant related genes	Relation type
AUTS2	TF binding region
AUTS2	CpG island

Extended variants
information (count: 5132 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:5132 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76773596	chr7:70061683-70061684	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369035115	chr7:70061686-70061687	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186073204	chr7:70061689-70061690	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575952067	chr7:70061703-70061704	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34399990	chr7:70061727-70061728	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75384559	chr7:70061767-70061768	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558421154	chr7:70061770-70061771	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576773662	chr7:70061810-70061811	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540805312	chr7:70061812-70061813	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146777738	chr7:70061845-70061846	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375066023	chr7:70061848-70061849	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552783330	chr7:70061855-70061856	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34986615	chr7:70061858-70061859	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188326195	chr7:70061878-70061879	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35713670	chr7:70061890-70061891	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563651177	chr7:70061926-70061927	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138864895	chr7:70061933-70061934	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546258016	chr7:70061975-70061976	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564750502	chr7:70061980-70061981	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180846252	chr7:70062007-70062008	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141959133	chr7:70062019-70062020	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146290386	chr7:70062057-70062058	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568585156	chr7:70062237-70062238	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529748529	chr7:70062243-70062244	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138654149	chr7:70062253-70062254	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569773782	chr7:70062256-70062257	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs20324	chr7:70062260-70062261	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540288376	chr7:70062294-70062295	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs20325	chr7:70062316-70062317	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570396092	chr7:70062328-70062329	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs20326	chr7:70062370-70062371	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552720755	chr7:70062394-70062395	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35786119	chr7:70062401-70062402	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs542185231	chr7:70062460-70062461	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs117192073	chr7:70062465-70062466	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs186490147	chr7:70062473-70062474	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73706116	chr7:70062479-70062480	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs79667256	chr7:70062512-70062513	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs148463844	chr7:70062522-70062523	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs564489094	chr7:70062582-70062583	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs73445467	chr7:70062605-70062606	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs540933057	chr7:70062639-70062640	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs376659959	chr7:70062664-70062665	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs575376951	chr7:70062672-70062673	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs562269140	chr7:70062689-70062690	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs35726103	chr7:70062700-70062701	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs191330197	chr7:70062705-70062706	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs77990380	chr7:70062718-70062719	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs1859530	chr7:70062735-70062736	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs578058902	chr7:70062749-70062750	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3199 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70060200-70062000	Bivalent Enhancer	Placenta	Placenta
2	chr7:70060200-70062600	Bivalent/Poised TSS	Fetal Brain Female	brain
3	chr7:70060400-70064600	Active TSS	Brain Anterior Caudate	brain
4	chr7:70060600-70061800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:70060600-70061800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:70060600-70061800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:70060600-70061800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:70060600-70061800	Bivalent Enhancer	Fetal Lung	lung
9	chr7:70060600-70061800	Bivalent/Poised TSS	NH-A	brain
10	chr7:70060600-70062000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr7:70060600-70062200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:70060600-70062400	Bivalent Enhancer	Fetal Brain Male	brain
13	chr7:70060600-70062400	Active TSS	Rectal Smooth Muscle	rectum
14	chr7:70060800-70061800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:70060800-70061800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr7:70060800-70061800	Active TSS	Aorta	Aorta
17	chr7:70060800-70061800	Active TSS	Brain Hippocampus Middle	brain
18	chr7:70060800-70061800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr7:70060800-70061800	Active TSS	Gastric	stomach
20	chr7:70060800-70061800	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr7:70060800-70062000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr7:70060800-70062200	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr7:70060800-70063200	Active TSS	Esophagus	oesophagus
24	chr7:70061000-70061800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
25	chr7:70061000-70061800	Active TSS	NHEK	skin
26	chr7:70061000-70062000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:70061000-70062200	Active TSS	Brain Substantia Nigra	brain
28	chr7:70061000-70063600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr7:70061400-70061800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:70061400-70061800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:70061400-70061800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
32	chr7:70061400-70061800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr7:70061400-70061800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:70061400-70061800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:70061400-70061800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
36	chr7:70061400-70061800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
37	chr7:70061400-70061800	Bivalent Enhancer	Fetal Heart	heart
38	chr7:70061400-70061800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
39	chr7:70061400-70061800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
40	chr7:70061400-70061800	Bivalent Enhancer	Small Intestine	intestine
41	chr7:70061400-70061800	Flanking Active TSS	GM12878-XiMat	blood
42	chr7:70061400-70062000	Flanking Active TSS	HMEC	breast
43	chr7:70061400-70062600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:70061600-70061800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:70061600-70061800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:70061600-70061800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:70061600-70061800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr7:70061600-70061800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr7:70061600-70061800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
50	chr7:70061600-70061800	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood

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