Variant report

Variant	esv3377653
Chromosome Location	chr7:70596541-70599389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:671)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:70596126-70596870	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr7:70597821-70597985	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr7:70597911-70597916	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr7:70596637-70597085	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD1	chr7:70597727-70598099	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr7:70596719-70596950	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr7:70597431-70597433	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr7:70596159-70597435	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr7:70596361-70596716	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr7:70596374-70596725	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr7:70596475-70596611	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr7:70596505-70596604	Medullo	brain:	n/a	n/a
13	CTCF	chr7:70596533-70596602	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr7:70596513-70596573	Fibrobl	skin:	n/a	n/a
15	E2F6	chr7:70597674-70598316	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr7:70596160-70597030	H1-hESC	embryonic stem cell:	n/a	chr7:70596767-70596776
17	E2F6	chr7:70596113-70596585	H1-hESC	embryonic stem cell:	n/a	n/a
18	E2F6	chr7:70596606-70597220	H1-hESC	embryonic stem cell:	n/a	chr7:70597032-70597041 chr7:70597092-70597101 chr7:70596767-70596776
19	E2F6	chr7:70597518-70598565	H1-hESC	embryonic stem cell:	n/a	n/a
20	EP300	chr7:70596146-70596579	H1-hESC	embryonic stem cell:	n/a	chr7:70596414-70596423 chr7:70596479-70596495 chr7:70596483-70596499
21	GABPA	chr7:70596487-70597048	H1-hESC	embryonic stem cell:	n/a	chr7:70596767-70596776 chr7:70596493-70596507 chr7:70596490-70596504
22	GTF2F1	chr7:70596950-70597000	H1-hESC	embryonic stem cell:	n/a	n/a
23	GTF2F1	chr7:70597789-70597981	H1-hESC	embryonic stem cell:	n/a	n/a
24	GTF2F1	chr7:70596455-70596678	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUND	chr7:70596571-70596794	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUND	chr7:70596027-70596983	H1-hESC	embryonic stem cell:	n/a	chr7:70596110-70596124 chr7:70596272-70596286
27	MAX	chr7:70597622-70598363	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr7:70596114-70597192	H1-hESC	embryonic stem cell:	n/a	chr7:70596476-70596486
29	MAX	chr7:70597378-70598434	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr7:70596150-70597151	H1-hESC	embryonic stem cell:	n/a	chr7:70596476-70596486
31	MXI1	chr7:70597943-70598162	H1-hESC	embryonic stem cell:	n/a	n/a
32	MXI1	chr7:70597508-70597621	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYC	chr7:70597973-70598173	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr7:70596294-70596597	H1-hESC	embryonic stem cell:	n/a	chr7:70596476-70596486
35	NRF1	chr7:70596402-70596574	H1-hESC	embryonic stem cell:	n/a	chr7:70596493-70596507 chr7:70596490-70596504
36	POLR2A	chr7:70597480-70597885	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr7:70596800-70597060	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr7:70596152-70596574	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr7:70597472-70598226	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr7:70596212-70597318	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr7:70596070-70598893	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr7:70597896-70598081	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr7:70596195-70596584	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr7:70596203-70596987	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr7:70596589-70597013	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr7:70596172-70597347	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr7:70596611-70597314	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr7:70597472-70598216	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr7:70597374-70598047	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr7:70597470-70598259	H1-hESC	embryonic stem cell:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:70597091-70597141	GM12878	blood:	n/a
2	chr7:70597599-70597649	PFSK-1	brain:	n/a
3	chr7:70597599-70597649	NH-A	brain:	n/a
4	chr7:70597091-70597141	SK-N-SH	brain:	n/a
5	chr7:70597713-70597763	NH-A	brain:	n/a
6	chr7:70597921-70597971	RPTEC	kidney:	n/a
7	chr7:70598282-70598332	MCF10A-Er-Src	breast:	n/a
8	chr7:70597065-70597115	NT2-D1	testis:	n/a
9	chr7:70597778-70597828	Caco-2	colon:	n/a
10	chr7:70597921-70597971	HMEC	breast:	n/a
11	chr7:70597687-70597737	GM12878	blood:	n/a
12	chr7:70597599-70597649	AG04449	skin:	fetal
13	chr7:70597091-70597141	GM12891	blood:	n/a
14	chr7:70597921-70597971	NHDF-neo	bronchial:	n/a
15	chr7:70597713-70597763	HIPEpiC	eye:	n/a
16	chr7:70597065-70597115	HCM	heart:	n/a
17	chr7:70597091-70597141	MCF-7	breast:	n/a
18	chr7:70597778-70597828	GM12891	blood:	n/a
19	chr7:70597778-70597828	HIPEpiC	eye:	n/a
20	chr7:70597713-70597763	GM12891	blood:	n/a
21	chr7:70597091-70597141	HUVEC	blood vessel:	n/a
22	chr7:70597687-70597737	LNCaP	prostate:	n/a
23	chr7:70598282-70598332	NT2-D1	testis:	n/a
24	chr7:70597458-70597508	Hepatocyte	liver:	n/a
25	chr7:70597774-70597824	HNPCEpiC	eye:	n/a
26	chr7:70597921-70597971	BE2_C	brain:	n/a
27	chr7:70598282-70598332	ovcar-3	ovarian:	n/a
28	chr7:70597774-70597824	HMEC	breast:	n/a
29	chr7:70597713-70597763	HMEC	breast:	n/a
30	chr7:70597599-70597649	Jurkat	blood:	n/a
31	chr7:70597921-70597971	HAEpiC	amniotic membrane:	n/a
32	chr7:70597458-70597508	SK-N-MC	brain:	n/a
33	chr7:70597921-70597971	Caco-2	colon:	n/a
34	chr7:70597687-70597737	NT2-D1	testis:	n/a
35	chr7:70597774-70597824	AG10803	skin:	n/a
36	chr7:70597778-70597828	HEEpiC	esophagus:	n/a
37	chr7:70597599-70597649	K562	blood:	n/a
38	chr7:70597458-70597508	AoSMC	blood vessel:	n/a
39	chr7:70597599-70597649	HCPEpiC	choroid plexus:	n/a
40	chr7:70597599-70597649	U87	brain:	n/a
41	chr7:70597065-70597115	SK-N-MC	brain:	n/a
42	chr7:70597091-70597141	AG09309	skin:	n/a
43	chr7:70597774-70597824	MCF-7	breast:	n/a
44	chr7:70597091-70597141	Caco-2	colon:	n/a
45	chr7:70597687-70597737	SK-N-SH_RA	brain:	n/a
46	chr7:70597458-70597508	GM19239	blood:	n/a
47	chr7:70597774-70597824	CMK	blood:	n/a
48	chr7:70597091-70597141	SK-N-MC	brain:	n/a
49	chr7:70597458-70597508	IMR90	lung:	fetal
50	chr7:70597458-70597508	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
WBSCR17	TF binding region
WBSCR17	CpG island

Extended variants
information (count: 121 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536806953	chr7:70596559-70596560	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs555510553	chr7:70596572-70596573	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs112077594	chr7:70596579-70596580	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs544237098	chr7:70596635-70596636	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555871647	chr7:70596654-70596655	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs569012320	chr7:70596689-70596690	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs544999405	chr7:70596696-70596697	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs531418820	chr7:70596726-70596727	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs559983935	chr7:70596782-70596783	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs572371826	chr7:70596820-70596821	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs545604714	chr7:70596821-70596822	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs542365036	chr7:70596831-70596832	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs561090437	chr7:70596841-70596842	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs531699972	chr7:70596845-70596846	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs190881372	chr7:70596849-70596850	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs78804399	chr7:70596921-70596922	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs532508553	chr7:70596970-70596971	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs548124874	chr7:70596977-70596978	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs566335947	chr7:70596983-70596984	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs536894514	chr7:70597000-70597001	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548792868	chr7:70597038-70597039	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529430901	chr7:70597039-70597040	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs567389367	chr7:70597043-70597044	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs537522563	chr7:70597048-70597049	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs180873453	chr7:70597056-70597057	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs577582797	chr7:70597057-70597058	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs538590587	chr7:70597070-70597071	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs553657012	chr7:70597085-70597086	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs368219481	chr7:70597113-70597114	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs542451036	chr7:70597134-70597135	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs77484035	chr7:70597165-70597166	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs576507466	chr7:70597192-70597193	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs375444050	chr7:70597213-70597214	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs565344357	chr7:70597237-70597238	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs62459618	chr7:70597249-70597250	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs10245174	chr7:70597268-70597269	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs10234969	chr7:70597365-70597366	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530402145	chr7:70597367-70597368	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs113117674	chr7:70597396-70597397	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs10275799	chr7:70597522-70597523	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs556332108	chr7:70597549-70597550	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs576166204	chr7:70597556-70597557	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs111750296	chr7:70597624-70597625	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs372166341	chr7:70597626-70597627	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs570177305	chr7:70597645-70597646	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs6957446	chr7:70597675-70597676	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549622644	chr7:70597687-70597688	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs571277019	chr7:70597713-70597714	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs538296169	chr7:70597731-70597732	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs199831255	chr7:70597746-70597747	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70595800-70596600	Active TSS	H1 Cell Line	embryonic stem cell
2	chr7:70595800-70596800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:70595800-70596800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr7:70595800-70597400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:70595800-70597400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:70595800-70597800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr7:70595800-70597800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:70595800-70598600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:70595800-70598800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr7:70595800-70598800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:70595800-70599000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:70595800-70599400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:70595800-70599600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr7:70596000-70596600	Flanking Active TSS	Fetal Brain Male	brain
15	chr7:70596000-70596800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:70596000-70596800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
17	chr7:70596000-70596800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:70596000-70596800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
19	chr7:70596000-70597000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:70596000-70597000	Active TSS	Placenta Amnion	Placenta Amnion
21	chr7:70596000-70597200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:70596000-70597200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
23	chr7:70596000-70597200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr7:70596000-70597200	Active TSS	Right Ventricle	heart
25	chr7:70596000-70597400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr7:70596000-70597400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr7:70596000-70597400	Active TSS	Fetal Lung	lung
28	chr7:70596000-70597600	Active TSS	HSMMtube	muscle
29	chr7:70596000-70598000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:70596000-70598000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
31	chr7:70596000-70598200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:70596000-70598200	Active TSS	Psoas Muscle	Psoas
33	chr7:70596000-70598400	Active TSS	Aorta	Aorta
34	chr7:70596000-70598400	Active TSS	Colon Smooth Muscle	Colon
35	chr7:70596000-70598400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
36	chr7:70596000-70598400	Active TSS	Fetal Kidney	kidney
37	chr7:70596000-70598600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:70596000-70598600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:70596000-70598600	Active TSS	Ovary	ovary
40	chr7:70596000-70598600	Active TSS	Right Atrium	heart
41	chr7:70596000-70598800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr7:70596000-70598800	Active TSS	Rectal Smooth Muscle	rectum
43	chr7:70596000-70599000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
44	chr7:70596000-70599200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:70596000-70599200	Active TSS	Left Ventricle	heart
46	chr7:70596000-70599400	Active TSS	Brain Anterior Caudate	brain
47	chr7:70596000-70599600	Active TSS	Brain Angular Gyrus	brain
48	chr7:70596200-70596600	Bivalent Enhancer	Placenta	Placenta
49	chr7:70596200-70596800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:70596200-70596800	Active TSS	A549	lung

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