Variant report

Variant	esv3440721
Chromosome Location	chr7:50859483-50862031
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	ARID3A	chr7:50859975-50860318	K562	blood:	n/a	n/a
2	ATF2	chr7:50860072-50860358	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr7:50859969-50860342	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr7:50859958-50860389	K562	blood:	n/a	n/a
5	BACH1	chr7:50859647-50860274	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr7:50860949-50860952	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:50861491-50861539	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr7:50859645-50860144	K562	blood:	n/a	n/a
9	BHLHE40	chr7:50859750-50860055	HepG2	liver:	n/a	n/a
10	BHLHE40	chr7:50859682-50860388	K562	blood:	n/a	n/a
11	BHLHE40	chr7:50861444-50861466	K562	blood:	n/a	n/a
12	BRCA1	chr7:50859468-50860415	Hela-S3	cervix:	n/a	chr7:50860336-50860343
13	CBX3	chr7:50859993-50860375	K562	blood:	n/a	n/a
14	CCNT2	chr7:50860044-50861550	K562	blood:	n/a	chr7:50861156-50861165
15	CEBPB	chr7:50859688-50860410	IMR90	lung:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
16	CEBPB	chr7:50859711-50860399	HepG2	liver:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
17	CEBPB	chr7:50859660-50860370	A549	lung:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
18	CEBPB	chr7:50859697-50860386	A549	lung:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
19	CEBPB	chr7:50859582-50860421	K562	blood:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
20	CEBPB	chr7:50859234-50861061	Hela-S3	cervix:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
21	CEBPB	chr7:50859572-50860416	MCF-7	breast:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
22	CEBPB	chr7:50859613-50860414	ECC-1	luminal epithelium:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
23	CEBPB	chr7:50860080-50860338	K562	blood:	n/a	n/a
24	CEBPB	chr7:50859660-50860050	HepG2	liver:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
25	CEBPB	chr7:50859770-50859993	HepG2	liver:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
26	CEBPB	chr7:50859655-50860309	ECC-1	luminal epithelium:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
27	CEBPB	chr7:50859476-50860435	A549	lung:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
28	CEBPB	chr7:50859783-50860002	K562	blood:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
29	CEBPB	chr7:50859687-50860360	HepG2	liver:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
30	CEBPB	chr7:50859547-50860431	K562	blood:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
31	CEBPB	chr7:50859700-50860375	H1-hESC	embryonic stem cell:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
32	CEBPB	chr7:50859644-50860396	MCF-7	breast:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
33	CEBPD	chr7:50859598-50860471	K562	blood:	n/a	chr7:50859880-50859891
34	CEBPD	chr7:50859617-50860449	K562	blood:	n/a	chr7:50859880-50859891
35	CHD1	chr7:50859131-50859509	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr7:50859724-50860290	H1-hESC	embryonic stem cell:	n/a	chr7:50859934-50859944
37	CHD2	chr7:50859916-50860228	H1-hESC	embryonic stem cell:	n/a	chr7:50859934-50859944
38	CHD2	chr7:50859614-50859780	K562	blood:	n/a	n/a
39	CHD2	chr7:50859731-50861451	Hela-S3	cervix:	n/a	chr7:50860608-50860618 chr7:50859934-50859944
40	CHD2	chr7:50860028-50860613	K562	blood:	n/a	n/a
41	CREB1	chr7:50860408-50860692	A549	lung:	n/a	n/a
42	CREB1	chr7:50861205-50861508	A549	lung:	n/a	n/a
43	CTCF	chr7:50860608-50860635	MCF-7	breast:	n/a	chr7:50860614-50860623
44	CTCF	chr7:50860520-50860670	HPAF	blood vessel:	n/a	chr7:50860614-50860623
45	CTCF	chr7:50860800-50860950	SAEC	small airway:	n/a	n/a
46	CTCF	chr7:50860960-50861040	K562	blood:	n/a	n/a
47	CTCF	chr7:50860934-50860980	Hela-S3	cervix:	n/a	chr7:50860941-50860954
48	CTCF	chr7:50860520-50860670	HEK293	kidney:	n/a	chr7:50860614-50860623
49	CTCF	chr7:50860520-50860670	HA-sp	spinal cord:	n/a	chr7:50860614-50860623
50	CTCF	chr7:50860581-50860640	MCF-7	breast:	n/a	chr7:50860614-50860623

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:50860564-50860614	Hepatocyte	liver:	n/a
2	chr7:50860872-50860922	SAEC	small airway:	n/a
3	chr7:50860564-50860614	Hepatocyte	liver:	n/a
4	chr7:50860872-50860922	SAEC	small airway:	n/a
5	chr7:50861602-50861652	PANC-1	pancreas:	n/a
6	chr7:50861967-50862017	HRE	kidney:	n/a
7	chr7:50861739-50861789	SAEC	small airway:	n/a
8	chr7:50861549-50861599	NH-A	brain:	n/a
9	chr7:50861049-50861099	U87	brain:	n/a
10	chr7:50860866-50860916	CMK	blood:	n/a
11	chr7:50861607-50861657	HCPEpiC	choroid plexus:	n/a
12	chr7:50860564-50860614	GM12891	blood:	n/a
13	chr7:50861927-50861977	HNPCEpiC	eye:	n/a
14	chr7:50861418-50861468	IMR90	lung:	fetal
15	chr7:50861927-50861977	HAEpiC	amniotic membrane:	n/a
16	chr7:50861607-50861657	GM19239	blood:	n/a
17	chr7:50861535-50861585	RPTEC	kidney:	n/a
18	chr7:50861927-50861977	CMK	blood:	n/a
19	chr7:50860564-50860614	MCF10A-Er-Src	breast:	n/a
20	chr7:50861467-50861517	PrEC	prostate:	n/a
21	chr7:50861418-50861468	SK-N-MC	brain:	n/a
22	chr7:50861049-50861099	HAEpiC	amniotic membrane:	n/a
23	chr7:50861549-50861599	T-47D	breast:	n/a
24	chr7:50861472-50861522	HPAEpiC	pulmonary alveolar:	n/a
25	chr7:50860872-50860922	HepG2	liver:	n/a
26	chr7:50861467-50861517	NH-A	brain:	n/a
27	chr7:50861607-50861657	HCT-116	colon:	n/a
28	chr7:50860173-50860223	NHBE	bronchial:	n/a
29	chr7:50861602-50861652	SK-N-SH	brain:	n/a
30	chr7:50861549-50861599	Hepatocyte	liver:	n/a
31	chr7:50861487-50861537	CMK	blood:	n/a
32	chr7:50860564-50860614	HCPEpiC	choroid plexus:	n/a
33	chr7:50860564-50860614	CMK	blood:	n/a
34	chr7:50861739-50861789	AG04449	skin:	fetal
35	chr7:50861467-50861517	HepG2	liver:	n/a
36	chr7:50860872-50860922	Hela-S3	cervix:	n/a
37	chr7:50861049-50861099	HCPEpiC	choroid plexus:	n/a
38	chr7:50861739-50861789	HEEpiC	esophagus:	n/a
39	chr7:50861607-50861657	HRCEpiC	kidney:	n/a
40	chr7:50861592-50861642	Caco-2	colon:	n/a
41	chr7:50861739-50861789	PrEC	prostate:	n/a
42	chr7:50861602-50861652	HIPEpiC	eye:	n/a
43	chr7:50861602-50861652	IMR90	lung:	fetal
44	chr7:50861049-50861099	GM19239	blood:	n/a
45	chr7:50861592-50861642	HRCEpiC	kidney:	n/a
46	chr7:50860564-50860614	SKMC	muscle:	n/a
47	chr7:50861472-50861522	MCF10A-Er-Src	breast:	n/a
48	chr7:50861472-50861522	U87	brain:	n/a
49	chr7:50861654-50861704	HCPEpiC	choroid plexus:	n/a
50	chr7:50861834-50861884	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:50425673..50428002-chr7:50857921..50860124,2	K562	blood:
2	chr7:50861965..50863121-chr7:51049318..51050307,3	MCF-7	breast:
3	chr7:50799534..50801547-chr7:50859929..50861719,2	K562	blood:
4	chr7:50823624..50825816-chr7:50859906..50861742,2	K562	blood:
5	chr7:50861450..50863557-chr7:50891977..50893899,2	MCF-7	breast:
6	chr7:50857865..50859927-chr7:50902975..50905675,2	K562	blood:
7	chr7:50820026..50825124-chr7:50858182..50862797,5	K562	blood:
8	chr1:165797659..165798365-chr7:50859677..50860628,2	Hela-S3	cervix:
9	chr7:50829955..50831834-chr7:50857481..50859941,2	K562	blood:
10	chr7:50814324..50816744-chr7:50859392..50862105,3	K562	blood:
11	chr5:159848892..159849860-chr7:50860666..50861462,2	NB4	blood:
12	chr7:50859012..50860567-chr7:50873879..50876072,2	K562	blood:
13	chr7:50672342..50675062-chr7:50858858..50861329,2	K562	blood:

Variant related genes	Relation type
GRB10	TF binding region
GRB10	CpG island
ENSG00000164611	chromatin interactions
ENSG00000106070	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553525091	chr7:50859569-50859570	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs6954733	chr7:50859573-50859574	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538255026	chr7:50859574-50859575	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565750167	chr7:50859577-50859578	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530052365	chr7:50859578-50859579	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144640477	chr7:50859579-50859580	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140581265	chr7:50859611-50859612	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554349000	chr7:50859625-50859626	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574597357	chr7:50859665-50859666	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184937094	chr7:50859683-50859684	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573857227	chr7:50859695-50859696	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557304061	chr7:50859718-50859719	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570901619	chr7:50859740-50859741	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548649780	chr7:50859748-50859749	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577163585	chr7:50859777-50859778	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546115416	chr7:50859788-50859789	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544407247	chr7:50859806-50859807	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529221760	chr7:50859811-50859812	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527669366	chr7:50859815-50859816	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189398162	chr7:50859842-50859843	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561194110	chr7:50859917-50859918	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs180902174	chr7:50859939-50859940	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145650135	chr7:50859943-50859944	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186131557	chr7:50859944-50859945	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556439911	chr7:50859951-50859952	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372504669	chr7:50859968-50859969	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552441353	chr7:50859978-50859979	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377002367	chr7:50860015-50860016	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73697745	chr7:50860022-50860023	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs534295069	chr7:50860027-50860028	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189674864	chr7:50860046-50860047	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568024972	chr7:50860048-50860049	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577957996	chr7:50860155-50860156	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs141792652	chr7:50860161-50860162	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs537255512	chr7:50860183-50860184	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371121537	chr7:50860196-50860197	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557238897	chr7:50860210-50860211	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs376187587	chr7:50860212-50860213	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371023908	chr7:50860243-50860244	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577101869	chr7:50860256-50860257	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs28729316	chr7:50860271-50860272	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs115306625	chr7:50860409-50860410	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs553281590	chr7:50860428-50860429	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs181986615	chr7:50860444-50860445	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541029873	chr7:50860449-50860450	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150178389	chr7:50860491-50860492	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574791488	chr7:50860571-50860572	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543503748	chr7:50860619-50860620	Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563576658	chr7:50860620-50860621	Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs78954264	chr7:50860635-50860636	Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50853400-50859800	Weak transcription	Gastric	stomach
2	chr7:50856600-50859600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:50857200-50859800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:50857200-50861800	Active TSS	Right Atrium	heart
5	chr7:50857400-50861800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr7:50857800-50859800	Flanking Active TSS	HUVEC	blood vessel
7	chr7:50858000-50859600	Transcr. at gene 5' and 3'	K562	blood
8	chr7:50858200-50859600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:50858200-50859600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:50858200-50859600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:50858200-50859600	Enhancers	Placenta	Placenta
12	chr7:50858200-50859600	Enhancers	Stomach Mucosa	stomach
13	chr7:50858200-50859800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:50858200-50859800	Flanking Active TSS	Liver	Liver
15	chr7:50858200-50859800	Flanking Active TSS	NH-A	brain
16	chr7:50858200-50860000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr7:50858200-50861600	Active TSS	Left Ventricle	heart
18	chr7:50858400-50859600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:50858400-50860000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:50858400-50860000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr7:50858400-50860000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr7:50858400-50860200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:50858400-50860400	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr7:50858600-50859600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
25	chr7:50858600-50859600	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr7:50858800-50859600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr7:50858800-50859600	Enhancers	Brain Anterior Caudate	brain
28	chr7:50858800-50859600	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr7:50858800-50859800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:50858800-50859800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
31	chr7:50858800-50859800	Flanking Active TSS	A549	lung
32	chr7:50858800-50859800	Flanking Active TSS	Hela-S3	cervix
33	chr7:50858800-50860000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr7:50858800-50860600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:50858800-50861800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:50858800-50861800	Active TSS	Pancreas	Pancrea
37	chr7:50859000-50859600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr7:50859000-50859600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr7:50859000-50859600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:50859000-50859600	Enhancers	Brain Hippocampus Middle	brain
41	chr7:50859000-50859600	Enhancers	Fetal Heart	heart
42	chr7:50859000-50859600	Flanking Active TSS	Fetal Lung	lung
43	chr7:50859000-50859600	Flanking Active TSS	HSMMtube	muscle
44	chr7:50859000-50859600	Flanking Active TSS	NHDF-Ad	bronchial
45	chr7:50859000-50859600	Flanking Active TSS	NHLF	lung
46	chr7:50859000-50859800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:50859000-50859800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:50859000-50860000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr7:50859000-50860000	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr7:50859000-50860000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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