Variant report

Variant	esv3439607
Chromosome Location	chr7:71800441-71802989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:71800945-71801571	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr7:71801868-71802965	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr7:71801446-71801578	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr7:71800735-71800917	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD1	chr7:71802439-71802627	H1-hESC	embryonic stem cell:	n/a	chr7:71802464-71802474
6	CHD2	chr7:71800728-71800940	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr7:71800362-71800483	K562	blood:	n/a	n/a
8	CTBP2	chr7:71800558-71801338	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTBP2	chr7:71801632-71802487	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr7:71800531-71800722	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr7:71800560-71800710	HepG2	liver:	n/a	n/a
12	CTCF	chr7:71800443-71800784	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr7:71801104-71801215	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr7:71801584-71802602	H1-hESC	embryonic stem cell:	n/a	chr7:71802575-71802584 chr7:71801672-71801682 chr7:71801865-71801875
15	E2F6	chr7:71800207-71803092	H1-hESC	embryonic stem cell:	n/a	chr7:71800607-71800617 chr7:71802575-71802584 chr7:71801089-71801099 chr7:71801672-71801682 chr7:71800687-71800694 chr7:71801479-71801488 chr7:71801865-71801875
16	E2F6	chr7:71800453-71801441	H1-hESC	embryonic stem cell:	n/a	chr7:71800607-71800617 chr7:71801089-71801099 chr7:71800687-71800694
17	EGR1	chr7:71801544-71801903	H1-hESC	embryonic stem cell:	n/a	chr7:71801767-71801780 chr7:71801766-71801781 chr7:71801647-71801656 chr7:71801769-71801779
18	GABPA	chr7:71801846-71802643	H1-hESC	embryonic stem cell:	n/a	chr7:71802233-71802242
19	GABPA	chr7:71801434-71802451	H1-hESC	embryonic stem cell:	n/a	chr7:71802233-71802242 chr7:71801649-71801658 chr7:71801726-71801740
20	HMGN3	chr7:71802379-71802550	K562	blood:	n/a	n/a
21	JUND	chr7:71802139-71802289	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr7:71800525-71803233	H1-hESC	embryonic stem cell:	n/a	chr7:71800761-71800772 chr7:71800763-71800770 chr7:71800762-71800771 chr7:71801185-71801195 chr7:71801766-71801776 chr7:71801426-71801435 chr7:71800762-71800771 chr7:71800762-71800772
23	MAX	chr7:71800471-71803177	H1-hESC	embryonic stem cell:	n/a	chr7:71800761-71800772 chr7:71800763-71800770 chr7:71800762-71800771 chr7:71801185-71801195 chr7:71801766-71801776 chr7:71801426-71801435 chr7:71800762-71800771 chr7:71800762-71800772
24	MAX	chr7:71800539-71800978	H1-hESC	embryonic stem cell:	n/a	chr7:71800761-71800772 chr7:71800763-71800770 chr7:71800762-71800771 chr7:71800762-71800771 chr7:71800762-71800772
25	MXI1	chr7:71800588-71800899	H1-hESC	embryonic stem cell:	n/a	n/a
26	MXI1	chr7:71802044-71802382	H1-hESC	embryonic stem cell:	n/a	n/a
27	MXI1	chr7:71802733-71803043	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr7:71800564-71801116	H1-hESC	embryonic stem cell:	n/a	chr7:71800761-71800772 chr7:71800763-71800770 chr7:71800762-71800771 chr7:71800762-71800771 chr7:71800762-71800772
29	MYC	chr7:71801922-71802538	H1-hESC	embryonic stem cell:	n/a	n/a
30	NRF1	chr7:71802351-71802468	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:71801576-71802660	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr7:71801442-71802631	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr7:71801699-71801887	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr7:71801009-71801292	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr7:71801041-71801337	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr7:71802307-71802666	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr7:71800437-71803094	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr7:71801882-71802726	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr7:71800686-71800940	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr7:71801902-71802290	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr7:71801480-71802623	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr7:71801069-71801270	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr7:71800612-71801310	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr7:71801541-71802831	H1-hESC	embryonic stem cell:	n/a	chr7:71802090-71802103
45	RAD21	chr7:71801052-71802345	H1-hESC	embryonic stem cell:	n/a	chr7:71802090-71802103 chr7:71801246-71801258 chr7:71801333-71801346
46	RAD21	chr7:71800418-71801286	H1-hESC	embryonic stem cell:	n/a	chr7:71801246-71801258
47	RAD21	chr7:71800364-71800832	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr7:71800305-71800882	H1-hESC	embryonic stem cell:	n/a	n/a
49	REST	chr7:71801280-71802828	H1-neurons	neurons:	n/a	chr7:71801568-71801588 chr7:71801457-71801467 chr7:71801572-71801585 chr7:71801388-71801401 chr7:71801572-71801585 chr7:71801769-71801782 chr7:71801568-71801588
50	SIN3A	chr7:71800537-71803140	H1-hESC	embryonic stem cell:	n/a	chr7:71802203-71802216

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:71802184-71802234	ovcar-3	ovarian:	n/a
2	chr7:71802184-71802234	ovcar-3	ovarian:	n/a
3	chr7:71800412-71800462	HEEpiC	esophagus:	n/a
4	chr7:71800412-71800462	U87	brain:	n/a
5	chr7:71800412-71800462	Hela-S3	cervix:	n/a
6	chr7:71802574-71802624	HIPEpiC	eye:	n/a
7	chr7:71802184-71802234	GM12892	blood:	n/a
8	chr7:71801793-71801843	HMEC	breast:	n/a
9	chr7:71800987-71801037	AG04449	skin:	fetal
10	chr7:71802184-71802234	HL-60	blood:	n/a
11	chr7:71802574-71802624	MCF10A-Er-Src	breast:	n/a
12	chr7:71800987-71801037	K562	blood:	n/a
13	chr7:71802574-71802624	AoSMC	blood vessel:	n/a
14	chr7:71802184-71802234	ECC-1	luminal epithelium:	n/a
15	chr7:71800412-71800462	HRE	kidney:	n/a
16	chr7:71800412-71800462	HRCEpiC	kidney:	n/a
17	chr7:71800412-71800462	HCPEpiC	choroid plexus:	n/a
18	chr7:71800987-71801037	NH-A	brain:	n/a
19	chr7:71801535-71801585	T-47D	breast:	n/a
20	chr7:71800412-71800462	T-47D	breast:	n/a
21	chr7:71801793-71801843	AG04450	lung:	fetal
22	chr7:71802574-71802624	AG10803	skin:	n/a
23	chr7:71800412-71800462	GM19239	blood:	n/a
24	chr7:71802574-71802624	PFSK-1	brain:	n/a
25	chr7:71801535-71801585	A549	lung:	n/a
26	chr7:71802574-71802624	AG09319	gingival:	n/a
27	chr7:71801535-71801585	HNPCEpiC	eye:	n/a
28	chr7:71800987-71801037	Jurkat	blood:	n/a
29	chr7:71801535-71801585	NT2-D1	testis:	n/a
30	chr7:71801535-71801585	BE2_C	brain:	n/a
31	chr7:71802184-71802234	SAEC	small airway:	n/a
32	chr7:71802184-71802234	HCM	heart:	n/a
33	chr7:71802184-71802234	NT2-D1	testis:	n/a
34	chr7:71802574-71802624	HCM	heart:	n/a
35	chr7:71802184-71802234	CMK	blood:	n/a
36	chr7:71801535-71801585	AG04449	skin:	fetal
37	chr7:71801793-71801843	ovcar-3	ovarian:	n/a
38	chr7:71801793-71801843	AG09309	skin:	n/a
39	chr7:71800412-71800462	GM12891	blood:	n/a
40	chr7:71801793-71801843	Hela-S3	cervix:	n/a
41	chr7:71802574-71802624	ovcar-3	ovarian:	n/a
42	chr7:71801535-71801585	NHDF-neo	bronchial:	n/a
43	chr7:71802184-71802234	AG09319	gingival:	n/a
44	chr7:71801793-71801843	RPTEC	kidney:	n/a
45	chr7:71800412-71800462	SK-N-MC	brain:	n/a
46	chr7:71800412-71800462	MCF10A-Er-Src	breast:	n/a
47	chr7:71801793-71801843	Jurkat	blood:	n/a
48	chr7:71802184-71802234	U87	brain:	n/a
49	chr7:71801535-71801585	PFSK-1	brain:	n/a
50	chr7:71801535-71801585	CMK	blood:	n/a

Variant related genes	Relation type
CALN1	TF binding region
CALN1	CpG island

Extended variants
information (count: 118 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541789958	chr7:71800442-71800443	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368546297	chr7:71800488-71800489	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556952076	chr7:71800492-71800493	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575914979	chr7:71800524-71800525	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533515899	chr7:71800560-71800561	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559444424	chr7:71800563-71800564	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145356184	chr7:71800564-71800565	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565084936	chr7:71800565-71800566	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371929307	chr7:71800611-71800612	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs374160787	chr7:71800644-71800645	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs368159559	chr7:71800646-71800647	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs1878489	chr7:71800665-71800666	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs200844204	chr7:71800669-71800670	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs4513860	chr7:71800728-71800729	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs375037532	chr7:71800747-71800748	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs6968567	chr7:71800785-71800786	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs138015408	chr7:71800811-71800812	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531235897	chr7:71800895-71800896	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs552637269	chr7:71800944-71800945	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs571131522	chr7:71800962-71800963	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs534857031	chr7:71800974-71800975	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs553550015	chr7:71800994-71800995	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs541976019	chr7:71801027-71801028	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs551790564	chr7:71801040-71801041	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs535587717	chr7:71801043-71801044	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs187096955	chr7:71801088-71801089	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs116695995	chr7:71801170-71801171	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs537341089	chr7:71801207-71801208	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs191866318	chr7:71801222-71801223	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs563717576	chr7:71801261-71801262	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs577090169	chr7:71801264-71801265	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs540835472	chr7:71801279-71801280	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs2944820	chr7:71801285-71801286	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574566069	chr7:71801311-71801312	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs541995241	chr7:71801339-71801340	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs112507934	chr7:71801343-71801344	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs563266487	chr7:71801352-71801353	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs371300378	chr7:71801382-71801383	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs530386746	chr7:71801394-71801395	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs552151855	chr7:71801429-71801430	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs73362925	chr7:71801446-71801447	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs377277054	chr7:71801452-71801453	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs546774247	chr7:71801471-71801472	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs369766479	chr7:71801474-71801475	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs568342974	chr7:71801477-71801478	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs374179791	chr7:71801520-71801521	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs550700867	chr7:71801572-71801573	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs569339181	chr7:71801580-71801581	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs189324833	chr7:71801586-71801587	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs558149224	chr7:71801597-71801598	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:131)

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
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
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Williams Syndrome	16773131	CNVD
Breast cancer	16417655	CNVD
Rheumatoid arthritis	21728841	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Williams Syndrome	16617304	CNVD
Williams Syndrome	20206275	CNVD
Williams Syndrome	16199537	CNVD
Williams Syndrome	18923514	CNVD
Williams Syndrome	20970697	CNVD
Williams-beuren syndrome	20926892	CNVD
Williams-beuren syndrome	21808859	CNVD
periventricular nodular heterotopia	20648244	CNVD
Williams Syndrome	20425783	CNVD
Williams-beuren syndrome	22226172	CNVD
Williams-beuren syndrome	18923513	CNVD
Williams-beuren syndrome	17565757	CNVD
Williams-beuren syndrome	18787571	CNVD
Williams Syndrome	22241247	CNVD
Autism	21686962	CNVD
Autism	20970697	CNVD
Epilepsy	22118685	CNVD
Epilepsy	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21686962	CNVD
Schizophrenia	22118685	CNVD
Williams-beuren syndrome	18337728	CNVD
language delay	21686962	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
Mental retardation	16773131	CNVD
Colorectal cancer	19455253	CNVD
Williams-beuren syndrome	16971481	CNVD
Idiopathic infantile hypercalcaemia	20466674	CNVD
Williams Syndrome	18308711	CNVD
Williams Syndrome	19255058	CNVD
Williams Syndrome	18924169	CNVD
Williams Syndrome	21939500	CNVD
Williams Syndrome	20425784	CNVD
Williams Syndrome	22241097	CNVD
Williams Syndrome	19176822	CNVD
Williams Syndrome	17505701	CNVD
Supravalvular aortic stenosis	19844261	CNVD
Williams Syndrome	16760918	CNVD
Williams-beuren syndrome	18452001	CNVD
Williams-beuren syndrome	19880526	CNVD
Autism	17666889	CNVD
speech delay	17666889	CNVD
Metanephric adenoma	20802469	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71798400-71801200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:71798600-71801000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:71798800-71800600	Enhancers	Brain Substantia Nigra	brain
4	chr7:71799600-71802800	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr7:71799800-71800800	Active TSS	Brain Hippocampus Middle	brain
6	chr7:71799800-71800800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr7:71799800-71801600	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr7:71799800-71801600	Bivalent/Poised TSS	Thymus	Thymus
9	chr7:71799800-71803000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr7:71799800-71803000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
11	chr7:71800000-71800800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr7:71800200-71800600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr7:71800200-71800600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr7:71800200-71800600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr7:71800200-71802200	Active TSS	Fetal Thymus	thymus
16	chr7:71800200-71802400	Active TSS	Brain Anterior Caudate	brain
17	chr7:71800200-71802600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:71800400-71800600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
19	chr7:71800400-71800600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
20	chr7:71800400-71800600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr7:71800400-71801000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr7:71800400-71801200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:71800400-71802600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:71800400-71802600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr7:71800400-71802600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:71800400-71802600	Active TSS	Brain Angular Gyrus	brain
27	chr7:71800400-71802800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:71800400-71803200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr7:71800600-71800800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr7:71800600-71800800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:71800600-71800800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
32	chr7:71800600-71800800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:71800600-71800800	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr7:71800600-71800800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr7:71800600-71801000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
36	chr7:71800600-71801000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr7:71800600-71802600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr7:71800600-71802600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr7:71800600-71802600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:71800600-71802600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:71800600-71802800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr7:71800600-71802800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr7:71800600-71802800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr7:71800600-71803200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr7:71800800-71801000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:71800800-71801000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:71800800-71801000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
48	chr7:71800800-71801000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr7:71800800-71801000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
50	chr7:71800800-71801200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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