Variant report

Variant	nsv906872
Chromosome Location	chr16:70303418-70356746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1509)
CpG islands
(count:1530)
Chromatin interactive
region (count:84)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1509 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:70332592-70333723	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:70323182-70323949	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:70324700-70325301	K562	blood:	n/a	n/a
4	ARID3A	chr16:70320050-70320053	K562	blood:	n/a	n/a
5	ARID3A	chr16:70355318-70355347	HepG2	liver:	n/a	n/a
6	ARID3A	chr16:70322319-70322536	K562	blood:	n/a	n/a
7	ARID3A	chr16:70323372-70323571	K562	blood:	n/a	n/a
8	ARID3A	chr16:70336686-70336892	HepG2	liver:	n/a	n/a
9	ATF1	chr16:70332883-70333245	K562	blood:	n/a	chr16:70333054-70333068
10	ATF1	chr16:70323276-70323721	K562	blood:	n/a	n/a
11	ATF2	chr16:70323000-70323904	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr16:70322589-70323049	GM12878	blood:	n/a	n/a
13	ATF2	chr16:70323063-70323695	GM12878	blood:	n/a	n/a
14	ATF2	chr16:70322711-70323283	GM12878	blood:	n/a	n/a
15	ATF2	chr16:70332838-70333276	GM12878	blood:	n/a	chr16:70333054-70333068
16	ATF2	chr16:70332861-70333600	H1-hESC	embryonic stem cell:	n/a	chr16:70333425-70333432 chr16:70333054-70333068
17	ATF2	chr16:70332770-70333547	H1-hESC	embryonic stem cell:	n/a	chr16:70333425-70333432 chr16:70333054-70333068
18	ATF2	chr16:70323172-70323991	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr16:70323468-70323632	K562	blood:	n/a	chr16:70323613-70323627 chr16:70323623-70323632
20	ATF3	chr16:70323272-70323755	K562	blood:	n/a	chr16:70323613-70323627 chr16:70323623-70323632
21	ATF3	chr16:70323280-70323690	A549	lung:	n/a	chr16:70323613-70323627 chr16:70323623-70323632
22	ATF3	chr16:70332899-70333250	K562	blood:	n/a	chr16:70333055-70333065 chr16:70333057-70333077
23	BACH1	chr16:70332875-70333372	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr16:70323079-70323289	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr16:70333045-70333383	K562	blood:	n/a	n/a
26	BACH1	chr16:70323141-70323277	K562	blood:	n/a	n/a
27	BATF	chr16:70323396-70323647	GM12878	blood:	n/a	n/a
28	BCL3	chr16:70323244-70323656	A549	lung:	n/a	chr16:70323482-70323491
29	BCL3	chr16:70322862-70323649	A549	lung:	n/a	chr16:70323482-70323491
30	BCLAF1	chr16:70332783-70333578	GM12878	blood:	n/a	chr16:70333077-70333086
31	BCLAF1	chr16:70322649-70323482	GM12878	blood:	n/a	n/a
32	BCLAF1	chr16:70322559-70323432	GM12878	blood:	n/a	n/a
33	BHLHE40	chr16:70322951-70323872	K562	blood:	n/a	n/a
34	BHLHE40	chr16:70322999-70323862	GM12878	blood:	n/a	n/a
35	BHLHE40	chr16:70332804-70333710	GM12878	blood:	n/a	n/a
36	BHLHE40	chr16:70332971-70333597	HepG2	liver:	n/a	n/a
37	BHLHE40	chr16:70332905-70333569	K562	blood:	n/a	n/a
38	BRCA1	chr16:70323069-70323841	HepG2	liver:	n/a	n/a
39	BRCA1	chr16:70332898-70333321	HepG2	liver:	n/a	chr16:70333004-70333011
40	BRCA1	chr16:70332738-70333655	Hela-S3	cervix:	n/a	chr16:70333004-70333011
41	BRCA1	chr16:70323100-70323916	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr16:70332970-70333298	H1-hESC	embryonic stem cell:	n/a	chr16:70333004-70333011
43	BRCA1	chr16:70322772-70323434	H1-hESC	embryonic stem cell:	n/a	n/a
44	CBX3	chr16:70334803-70335418	K562	blood:	n/a	n/a
45	CBX3	chr16:70332910-70333531	K562	blood:	n/a	n/a
46	CBX3	chr16:70321336-70321728	K562	blood:	n/a	n/a
47	CBX3	chr16:70323075-70323753	K562	blood:	n/a	n/a
48	CBX3	chr16:70328278-70328769	K562	blood:	n/a	n/a
49	CCNT2	chr16:70323063-70323859	K562	blood:	n/a	n/a
50	CEBPB	chr16:70306485-70306782	IMR90	lung:	n/a	n/a

(count:1530 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70323915-70323965	LNCaP	prostate:	n/a
2	chr16:70331824-70331874	AG09309	skin:	n/a
3	chr16:70323689-70323739	T-47D	breast:	n/a
4	chr16:70323412-70323462	K562	blood:	n/a
5	chr16:70323915-70323965	HEK293	kidney:	embryo
6	chr16:70323915-70323965	LNCaP	prostate:	n/a
7	chr16:70331824-70331874	AG09309	skin:	n/a
8	chr16:70323689-70323739	T-47D	breast:	n/a
9	chr16:70323412-70323462	K562	blood:	n/a
10	chr16:70323915-70323965	HEK293	kidney:	embryo
11	chr16:70323049-70323099	HL-60	blood:	n/a
12	chr16:70323134-70323184	HL-60	blood:	n/a
13	chr16:70323915-70323965	GM06990	blood:	n/a
14	chr16:70323134-70323184	ECC-1	luminal epithelium:	n/a
15	chr16:70331777-70331827	K562	blood:	n/a
16	chr16:70333434-70333484	HMEC	breast:	n/a
17	chr16:70332992-70333042	U87	brain:	n/a
18	chr16:70328616-70328666	GM12892	blood:	n/a
19	chr16:70328616-70328666	A549	lung:	n/a
20	chr16:70323471-70323521	HRCEpiC	kidney:	n/a
21	chr16:70332992-70333042	ovcar-3	ovarian:	n/a
22	chr16:70328616-70328666	HEEpiC	esophagus:	n/a
23	chr16:70323367-70323417	HRE	kidney:	n/a
24	chr16:70328924-70328974	HMEC	breast:	n/a
25	chr16:70323134-70323184	CMK	blood:	n/a
26	chr16:70323915-70323965	SKMC	muscle:	n/a
27	chr16:70323412-70323462	HepG2	liver:	n/a
28	chr16:70328763-70328813	ProgFib	skin:	n/a
29	chr16:70323471-70323521	HepG2	liver:	n/a
30	chr16:70332878-70332928	GM12892	blood:	n/a
31	chr16:70323049-70323099	NT2-D1	testis:	n/a
32	chr16:70317506-70317556	NH-A	brain:	n/a
33	chr16:70323049-70323099	U87	brain:	n/a
34	chr16:70323915-70323965	IMR90	lung:	fetal
35	chr16:70333124-70333174	MCF10A-Er-Src	breast:	n/a
36	chr16:70323463-70323513	AG09319	gingival:	n/a
37	chr16:70332878-70332928	BJ	skin:	n/a
38	chr16:70323574-70323624	GM12878	blood:	n/a
39	chr16:70323412-70323462	RPTEC	kidney:	n/a
40	chr16:70333124-70333174	GM12891	blood:	n/a
41	chr16:70323574-70323624	ECC-1	luminal epithelium:	n/a
42	chr16:70323471-70323521	SAEC	small airway:	n/a
43	chr16:70333434-70333484	AG04450	lung:	fetal
44	chr16:70323471-70323521	HIPEpiC	eye:	n/a
45	chr16:70333434-70333484	BJ	skin:	n/a
46	chr16:70323463-70323513	SAEC	small airway:	n/a
47	chr16:70326013-70326063	GM19239	blood:	n/a
48	chr16:70323412-70323462	GM06990	blood:	n/a
49	chr16:70333124-70333174	Hepatocyte	liver:	n/a
50	chr16:70323915-70323965	HCF	heart:	n/a

(count:84 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:70311320..70313500-chr16:70315118..70317601,2	MCF-7	breast:
2	chr16:70320111..70324850-chr16:70378173..70382680,12	K562	blood:
3	chr16:70326812..70331019-chr16:70331790..70334670,4	MCF-7	breast:
4	chr16:70332738..70336879-chr16:70337579..70341949,6	MCF-7	breast:
5	chr16:70321668..70323316-chr16:70719219..70720791,2	K562	blood:
6	chr16:70321807..70326700-chr16:70327142..70336316,14	MCF-7	breast:
7	chr16:70322044..70326489-chr16:70345691..70350355,6	K562	blood:
8	chr16:70304019..70307016-chr16:70314865..70316584,2	K562	blood:
9	chr16:70321891..70324896-chr16:70556007..70559559,7	K562	blood:
10	chr16:70294294..70298794-chr16:70322473..70325438,5	K562	blood:
11	chr16:70326812..70331019-chr16:70331790..70334670,4	MCF-7	breast:
12	chr16:70302704..70305268-chr16:70318422..70320250,2	K562	blood:
13	chr16:70321807..70326700-chr16:70327142..70336316,14	MCF-7	breast:
14	chr16:70321686..70323395-chr16:70461245..70463196,2	K562	blood:
15	chr16:70321820..70325241-chr16:70331601..70337689,10	MCF-7	breast:
16	chr16:70333712..70335282-chr16:70336416..70339025,2	K562	blood:
17	chr16:69795308..69797439-chr16:70322057..70323697,2	K562	blood:
18	chr16:70344450..70346298-chr16:70347221..70349593,2	K562	blood:
19	chr16:70284537..70287212-chr16:70312078..70314485,2	MCF-7	breast:
20	chr16:70302704..70305268-chr16:70318422..70320250,2	K562	blood:
21	chr16:70320811..70326767-chr16:70331299..70339483,12	K562	blood:
22	chr16:70283625..70285831-chr16:70321379..70323186,2	K562	blood:
23	chr16:70284511..70286776-chr16:70330314..70334173,3	MCF-7	breast:
24	chr16:70322920..70323498-chr17:56736520..56737074,2	Hela-S3	cervix:
25	chr16:70313625..70315459-chr16:70321898..70323513,2	MCF-7	breast:
26	chr16:70332608..70333198-chr5:52285135..52286085,2	Hela-S3	cervix:
27	chr16:70316535..70319262-chr16:70321753..70323880,3	MCF-7	breast:
28	chr16:70321558..70325394-chr16:70325539..70331219,12	K562	blood:
29	chr16:70297512..70300510-chr16:70319177..70321494,2	K562	blood:
30	chr16:70311320..70313500-chr16:70315118..70317601,2	MCF-7	breast:
31	chr16:70322925..70323494-chr20:5986425..5987020,2	NB4	blood:
32	chr16:70326803..70329805-chr16:70331309..70336594,5	K562	blood:
33	chr16:70320144..70321690-chr16:70563218..70564761,2	K562	blood:
34	chr16:70321558..70325394-chr16:70325539..70331219,12	K562	blood:
35	chr16:70285551..70287334-chr16:70318169..70320584,3	K562	blood:
36	chr16:70320811..70326767-chr16:70331299..70339483,12	K562	blood:
37	chr16:70322905..70325313-chr16:70346536..70349087,3	K562	blood:
38	chr16:70321887..70324896-chr16:70556007..70561529,9	K562	blood:
39	chr16:70323092..70323796-chr19:3184997..3185600,2	NB4	blood:
40	chr16:70338003..70340478-chr16:70365568..70367994,2	K562	blood:
41	chr16:70318554..70325188-chr16:70378714..70382302,15	K562	blood:
42	chr16:70332853..70335232-chr16:70378695..70381623,2	K562	blood:
43	chr16:70284207..70286196-chr16:70321648..70323975,3	MCF-7	breast:
44	chr16:70298741..70301676-chr16:70322004..70324740,3	MCF-7	breast:
45	chr16:70333712..70335282-chr16:70336416..70339025,2	K562	blood:
46	chr16:70316213..70317972-chr16:70332773..70334830,2	MCF-7	breast:
47	chr16:70323174..70325027-chr16:70556490..70558440,2	MCF-7	breast:
48	chr16:70302571..70304253-chr16:70316380..70318407,2	K562	blood:
49	chr16:70331932..70334361-chr16:70334943..70337402,2	MCF-7	breast:
50	chr16:70319890..70322761-chr16:70339573..70342006,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DDX19B-1	chr16:70309972-70310251	NONHSAT143421
2	lnc-AARS-1	chr16:70351159-70351276	ENSG00000245206
3	lnc-AARS-1	chr16:70349543-70350045	ENSG00000261777.1
4	lnc-AARS-1	chr16:70349547-70350045	ENSG00000245206
5	lnc-AARS-1	chr16:70351159-70351276	ENSG00000261777.1

No data

Variant related genes	Relation type
DDX19B	TF binding region
ENSG00000260537	TF binding region
RN7SL279P	TF binding region
AARS	TF binding region
DDX19B	CpG island
ENSG00000260537	CpG island
RN7SL279P	CpG island
AARS	CpG island
ENSG00000125912	chromatin interactions
ENSG00000223496	chromatin interactions
ENSG00000087460	chromatin interactions
ENSG00000157349	chromatin interactions
ENSG00000132613	chromatin interactions
ENSG00000221514	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000168872	chromatin interactions
ENSG00000265230	chromatin interactions
ENSG00000261777	chromatin interactions
ENSG00000088766	chromatin interactions
ENSG00000090861	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000198373	chromatin interactions
ENSG00000137497	chromatin interactions
ENSG00000103051	chromatin interactions
ENSG00000260537	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000225806	chromatin interactions
ENSG00000189091	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000082996	chromatin interactions
ENSG00000164171	chromatin interactions
TPPP	miRNA target sites
QDPR	miRNA target sites

Extended variants
information (count: 2108 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2108 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7193598	chr16:70303418-70303419	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553922907	chr16:70303427-70303428	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs62049421	chr16:70303447-70303448	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs572193392	chr16:70303479-70303480	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs375745588	chr16:70303487-70303488	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs149761815	chr16:70303503-70303504	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs376863001	chr16:70303509-70303510	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs557600847	chr16:70303524-70303525	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs138490305	chr16:70303525-70303526	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs370496079	chr16:70303542-70303543	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs141331431	chr16:70303546-70303547	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs369366275	chr16:70303575-70303576	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs576221121	chr16:70303579-70303580	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs2070203	chr16:70303580-70303581	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs561670727	chr16:70303637-70303638	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs34296479	chr16:70303642-70303643	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs201865481	chr16:70303646-70303647	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs138977601	chr16:70303649-70303650	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs541788902	chr16:70303653-70303654	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs200032881	chr16:70303654-70303655	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs11537667	chr16:70303659-70303660	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs370183481	chr16:70303716-70303717	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs533390668	chr16:70303752-70303753	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs551965168	chr16:70303755-70303756	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs570022783	chr16:70303771-70303772	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs192084852	chr16:70303809-70303810	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs140639021	chr16:70303819-70303820	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs368062694	chr16:70303824-70303825	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs548922006	chr16:70303864-70303865	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs577317783	chr16:70303879-70303880	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs373696270	chr16:70303886-70303887	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs200415664	chr16:70303887-70303888	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs553239906	chr16:70303903-70303904	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs182798256	chr16:70303941-70303942	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs145709728	chr16:70304033-70304034	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs368025577	chr16:70304065-70304066	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs55790133	chr16:70304074-70304075	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs56115411	chr16:70304075-70304076	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs370536219	chr16:70304123-70304124	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs144753427	chr16:70304152-70304153	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs375106256	chr16:70304164-70304165	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs565851586	chr16:70304172-70304173	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs148075561	chr16:70304174-70304175	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs557956516	chr16:70304176-70304177	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs200772609	chr16:70304186-70304187	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs543552388	chr16:70304198-70304199	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs372680730	chr16:70304202-70304203	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs141840552	chr16:70304215-70304216	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs530889354	chr16:70304229-70304230	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs202217812	chr16:70304259-70304260	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20841430	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2137 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70285800-70310200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:70286000-70306200	Strong transcription	Rectal Mucosa Donor 31	rectum
3	chr16:70286000-70307400	Strong transcription	Primary T cells from cord blood	blood
4	chr16:70286000-70316400	Strong transcription	Liver	Liver
5	chr16:70286000-70318600	Strong transcription	Fetal Intestine Large	intestine
6	chr16:70286000-70319000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:70286000-70320000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr16:70286000-70320400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:70286000-70320400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:70286000-70320400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:70286000-70320400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr16:70286000-70320400	Strong transcription	Osteobl	bone
13	chr16:70286000-70321400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:70286000-70321400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr16:70286200-70304600	Strong transcription	A549	lung
16	chr16:70286200-70305800	Strong transcription	Gastric	stomach
17	chr16:70286200-70306000	Strong transcription	Brain Hippocampus Middle	brain
18	chr16:70286200-70306000	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr16:70286200-70306800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr16:70286200-70306800	Strong transcription	Right Ventricle	heart
21	chr16:70286200-70306800	Strong transcription	NHLF	lung
22	chr16:70286200-70307400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr16:70286200-70307400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr16:70286200-70307400	Strong transcription	Brain Cingulate Gyrus	brain
25	chr16:70286200-70307600	Strong transcription	Brain Angular Gyrus	brain
26	chr16:70286200-70311000	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr16:70286200-70316600	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr16:70286200-70317200	Strong transcription	Placenta	Placenta
29	chr16:70286200-70317400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr16:70286200-70317400	Strong transcription	Fetal Thymus	thymus
31	chr16:70286200-70318600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:70286200-70319000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr16:70286200-70319600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr16:70286200-70319800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr16:70286200-70320000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr16:70286200-70320400	Strong transcription	Fetal Muscle Leg	muscle
37	chr16:70286200-70320400	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr16:70286200-70320600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr16:70286200-70321200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:70286200-70321400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:70286200-70321400	Strong transcription	Fetal Stomach	stomach
42	chr16:70286200-70321600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:70286400-70306000	Strong transcription	Spleen	Spleen
44	chr16:70286400-70306200	Strong transcription	Left Ventricle	heart
45	chr16:70286400-70307200	Strong transcription	Fetal Brain Female	brain
46	chr16:70286400-70307200	Strong transcription	Thymus	Thymus
47	chr16:70286400-70308400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:70286400-70309000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr16:70286400-70316800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr16:70286400-70317000	Strong transcription	Primary T cells fromperipheralblood	blood

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