Variant report

Variant	nsv523524
Chromosome Location	chr16:72464460-72635674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1293)
CpG islands
(count:123)
Chromatin interactive
region (count:42)
LncRNA
region (count:44)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1293 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:72476024-72476754	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:72502532-72502843	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:72503693-72504255	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:72521340-72521396	HepG2	liver:	n/a	n/a
5	ARID3A	chr16:72600101-72600190	K562	blood:	n/a	n/a
6	ARID3A	chr16:72489949-72490982	HepG2	liver:	n/a	n/a
7	ATF1	chr16:72536079-72536345	K562	blood:	n/a	n/a
8	ATF1	chr16:72533635-72533801	K562	blood:	n/a	n/a
9	ATF2	chr16:72624338-72624875	GM12878	blood:	n/a	n/a
10	ATF2	chr16:72624356-72624753	GM12878	blood:	n/a	n/a
11	ATF3	chr16:72588963-72589148	K562	blood:	n/a	n/a
12	BATF	chr16:72631866-72632250	GM12878	blood:	n/a	n/a
13	BATF	chr16:72516615-72516984	GM12878	blood:	n/a	n/a
14	BATF	chr16:72536076-72536309	GM12878	blood:	n/a	n/a
15	BATF	chr16:72624427-72624760	GM12878	blood:	n/a	n/a
16	BATF	chr16:72631890-72632232	GM12878	blood:	n/a	n/a
17	BCL11A	chr16:72631934-72632158	GM12878	blood:	n/a	n/a
18	BCL11A	chr16:72631913-72632273	GM12878	blood:	n/a	n/a
19	BCL11A	chr16:72624455-72624842	GM12878	blood:	n/a	n/a
20	BCL11A	chr16:72624474-72624744	GM12878	blood:	n/a	n/a
21	BCLAF1	chr16:72535929-72536443	GM12878	blood:	n/a	n/a
22	BHLHE40	chr16:72627030-72627212	GM12878	blood:	n/a	n/a
23	BHLHE40	chr16:72631958-72632155	GM12878	blood:	n/a	n/a
24	BHLHE40	chr16:72624239-72625175	GM12878	blood:	n/a	n/a
25	BHLHE40	chr16:72536111-72536338	K562	blood:	n/a	n/a
26	BHLHE40	chr16:72587474-72587506	K562	blood:	n/a	n/a
27	BHLHE40	chr16:72536033-72536496	GM12878	blood:	n/a	n/a
28	BHLHE40	chr16:72476323-72476654	HepG2	liver:	n/a	n/a
29	BRCA1	chr16:72501138-72501387	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr16:72548113-72548248	H1-hESC	embryonic stem cell:	n/a	n/a
31	CBX3	chr16:72468064-72468385	K562	blood:	n/a	n/a
32	CBX3	chr16:72508250-72508877	HCT-116	colon:	n/a	n/a
33	CBX3	chr16:72468054-72468449	HCT-116	colon:	n/a	n/a
34	CBX3	chr16:72508334-72508886	HCT-116	colon:	n/a	n/a
35	CBX3	chr16:72468148-72468413	HCT-116	colon:	n/a	n/a
36	CBX3	chr16:72468096-72468386	K562	blood:	n/a	n/a
37	CCNT2	chr16:72584877-72584996	K562	blood:	n/a	n/a
38	CEBPB	chr16:72494444-72494546	A549	lung:	n/a	n/a
39	CEBPB	chr16:72564407-72564711	IMR90	lung:	n/a	n/a
40	CEBPB	chr16:72603599-72603958	H1-hESC	embryonic stem cell:	n/a	chr16:72603775-72603786
41	CEBPB	chr16:72471834-72472133	A549	lung:	n/a	chr16:72471980-72471993 chr16:72471980-72471991 chr16:72471982-72471991 chr16:72471982-72471991 chr16:72471980-72471993 chr16:72471981-72471992 chr16:72471982-72471991 chr16:72471980-72471993 chr16:72471982-72471991
42	CEBPB	chr16:72471846-72472136	Hela-S3	cervix:	n/a	chr16:72471980-72471993 chr16:72471980-72471991 chr16:72471982-72471991 chr16:72471982-72471991 chr16:72471980-72471993 chr16:72471981-72471992 chr16:72471982-72471991 chr16:72471980-72471993 chr16:72471982-72471991
43	CEBPB	chr16:72471799-72472258	MCF-7	breast:	n/a	chr16:72471980-72471993 chr16:72471980-72471991 chr16:72471982-72471991 chr16:72471982-72471991 chr16:72471980-72471993 chr16:72471981-72471992 chr16:72471982-72471991 chr16:72472138-72472155 chr16:72471980-72471993 chr16:72471982-72471991
44	CEBPB	chr16:72588922-72589226	IMR90	lung:	n/a	chr16:72589069-72589080
45	CEBPB	chr16:72471823-72472158	HepG2	liver:	n/a	chr16:72471980-72471993 chr16:72471980-72471991 chr16:72471982-72471991 chr16:72471982-72471991 chr16:72471980-72471993 chr16:72471981-72471992 chr16:72471982-72471991 chr16:72472138-72472155 chr16:72471980-72471993 chr16:72471982-72471991
46	CEBPB	chr16:72603621-72603944	K562	blood:	n/a	chr16:72603775-72603786
47	CEBPB	chr16:72603627-72603940	A549	lung:	n/a	chr16:72603775-72603786
48	CEBPB	chr16:72471816-72472171	IMR90	lung:	n/a	chr16:72471980-72471993 chr16:72471980-72471991 chr16:72471982-72471991 chr16:72471982-72471991 chr16:72471980-72471993 chr16:72471981-72471992 chr16:72471982-72471991 chr16:72472138-72472155 chr16:72471980-72471993 chr16:72471982-72471991
49	CEBPB	chr16:72612106-72612173	HepG2	liver:	n/a	chr16:72612114-72612125
50	CEBPB	chr16:72588930-72589214	HepG2	liver:	n/a	chr16:72589069-72589080

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:72516874-72516924	GM12892	blood:	n/a
2	chr16:72516874-72516924	GM12892	blood:	n/a
3	chr16:72602838-72602888	NH-A	brain:	n/a
4	chr16:72516874-72516924	AG04450	lung:	fetal
5	chr16:72516874-72516924	HCF	heart:	n/a
6	chr16:72602838-72602888	A549	lung:	n/a
7	chr16:72602838-72602888	HL-60	blood:	n/a
8	chr16:72516874-72516924	GM12891	blood:	n/a
9	chr16:72516874-72516924	HCT-116	colon:	n/a
10	chr16:72516874-72516924	NH-A	brain:	n/a
11	chr16:72516874-72516924	ECC-1	luminal epithelium:	n/a
12	chr16:72602838-72602888	Jurkat	blood:	n/a
13	chr16:72602838-72602888	RPTEC	kidney:	n/a
14	chr16:72516874-72516924	Jurkat	blood:	n/a
15	chr16:72516874-72516924	NHBE	bronchial:	n/a
16	chr16:72516874-72516924	U87	brain:	n/a
17	chr16:72516874-72516924	AG09309	skin:	n/a
18	chr16:72602838-72602888	AG09309	skin:	n/a
19	chr16:72516874-72516924	HRCEpiC	kidney:	n/a
20	chr16:72602838-72602888	U87	brain:	n/a
21	chr16:72602838-72602888	ovcar-3	ovarian:	n/a
22	chr16:72602838-72602888	SK-N-SH_RA	brain:	n/a
23	chr16:72602838-72602888	SKMC	muscle:	n/a
24	chr16:72602838-72602888	Caco-2	colon:	n/a
25	chr16:72602838-72602888	HCPEpiC	choroid plexus:	n/a
26	chr16:72602838-72602888	HCF	heart:	n/a
27	chr16:72516874-72516924	MCF10A-Er-Src	breast:	n/a
28	chr16:72602838-72602888	BJ	skin:	n/a
29	chr16:72602838-72602888	ProgFib	skin:	n/a
30	chr16:72602838-72602888	HEEpiC	esophagus:	n/a
31	chr16:72516874-72516924	HRPEpiC	eye:	n/a
32	chr16:72516874-72516924	H1-hESC	embryonic stem cell:	embryo
33	chr16:72516874-72516924	HepG2	liver:	n/a
34	chr16:72516874-72516924	SK-N-MC	brain:	n/a
35	chr16:72602838-72602888	NT2-D1	testis:	n/a
36	chr16:72516874-72516924	NHDF-neo	bronchial:	n/a
37	chr16:72602838-72602888	NHBE	bronchial:	n/a
38	chr16:72602838-72602888	GM12878	blood:	n/a
39	chr16:72516874-72516924	Hepatocyte	liver:	n/a
40	chr16:72516874-72516924	HCM	heart:	n/a
41	chr16:72516874-72516924	GM19239	blood:	n/a
42	chr16:72602838-72602888	LNCaP	prostate:	n/a
43	chr16:72516874-72516924	PFSK-1	brain:	n/a
44	chr16:72516874-72516924	AG10803	skin:	n/a
45	chr16:72602838-72602888	NHDF-neo	bronchial:	n/a
46	chr16:72516874-72516924	T-47D	breast:	n/a
47	chr16:72602838-72602888	GM12892	blood:	n/a
48	chr16:72516874-72516924	LNCaP	prostate:	n/a
49	chr16:72602838-72602888	Hela-S3	cervix:	n/a
50	chr16:72602838-72602888	SAEC	small airway:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:72508162..72510433-chr16:72510794..72512669,2	MCF-7	breast:
2	chr16:72533574..72535315-chr16:72549246..72551228,2	MCF-7	breast:
3	chr16:72468334..72468996-chr4:153881337..153881856,2	MCF-7	breast:
4	chr16:72582473..72585253-chr16:72697381..72699878,2	K562	blood:
5	chr16:72536168..72536728-chr16:73230597..73231356,2	MCF-7	breast:
6	chr16:72495627..72498619-chr16:72502820..72505765,2	K562	blood:
7	chr16:72495627..72498619-chr16:72502820..72505765,2	K562	blood:
8	chr16:72533574..72535315-chr16:72549246..72551228,2	MCF-7	breast:
9	chr16:72500752..72501495-chr20:52194750..52195674,2	MCF-7	breast:
10	chr16:72522187..72523769-chr16:72524456..72527428,2	MCF-7	breast:
11	chr16:72503607..72506590-chr16:72509410..72511219,2	K562	blood:
12	chr16:72504730..72507157-chr16:72516819..72518970,2	MCF-7	breast:
13	chr16:72433906..72434918-chr16:72500757..72501753,4	MCF-7	breast:
14	chr16:72490089..72492930-chr16:72500761..72502582,2	MCF-7	breast:
15	chr16:72625289..72626865-chr16:72628654..72630919,2	MCF-7	breast:
16	chr16:72490089..72492930-chr16:72500761..72502582,2	MCF-7	breast:
17	chr16:72565797..72567323-chr16:73081102..73083814,2	MCF-7	breast:
18	chr16:72621877..72623975-chr16:72629734..72632332,2	K562	blood:
19	chr16:72535869..72536485-chr16:72866539..72867122,2	MCF-7	breast:
20	chr16:72503607..72506590-chr16:72509410..72511219,2	K562	blood:
21	chr16:72563523..72565627-chr16:72572484..72574006,2	MCF-7	breast:
22	chr16:72504730..72507157-chr16:72516819..72518970,2	MCF-7	breast:
23	chr16:72601285..72603828-chr16:72609527..72611174,2	MCF-7	breast:
24	chr16:72433824..72434833-chr16:72500385..72501774,13	MCF-7	breast:
25	chr16:72582473..72585253-chr16:72696264..72699878,3	K562	blood:
26	chr16:72625289..72626865-chr16:72628654..72630919,2	MCF-7	breast:
27	chr16:72535746..72536637-chr16:72880692..72881312,4	MCF-7	breast:
28	chr16:72622601..72625359-chr16:72638031..72640326,2	MCF-7	breast:
29	chr16:72508162..72510433-chr16:72510794..72512669,2	MCF-7	breast:
30	chr16:72533667..72535695-chr16:73091048..73092778,3	MCF-7	breast:
31	chr16:72522187..72523769-chr16:72524456..72527428,2	MCF-7	breast:
32	chr16:72472061..72473640-chr16:72477972..72479514,2	MCF-7	breast:
33	chr16:72275512..72276382-chr16:72500748..72501728,5	MCF-7	breast:
34	chr16:72536827..72539367-chr16:73079618..73082367,2	MCF-7	breast:
35	chr16:72563523..72565627-chr16:72572484..72574006,2	MCF-7	breast:
36	chr16:72535525..72537335-chr16:73089381..73091034,2	MCF-7	breast:
37	chr16:72275519..72276391-chr16:72500758..72501752,2	K562	blood:
38	chr16:72158517..72159442-chr16:72500757..72501710,3	MCF-7	breast:
39	chr16:72621877..72623975-chr16:72629734..72632332,2	K562	blood:
40	chr16:72275348..72276522-chr16:72500758..72501765,11	MCF-7	breast:
41	chr16:72601285..72603828-chr16:72609527..72611174,2	MCF-7	breast:
42	chr16:72472061..72473640-chr16:72477972..72479514,2	MCF-7	breast:

(count:44 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DHX38-20	chr16:72568314-72569463	NONHSAT143587
2	lnc-ZFHX3-5	chr16:72611537-72611982	NONHSAT143591
3	lnc-PMFBP1-4	chr16:72604350-72604414	ENSG00000261008.2
4	lnc-DHX38-21	chr16:72571458-72572196	NONHSAT143588
5	lnc-PMFBP1-4	chr16:72513650-72513689	ENSG00000261008.2
6	lnc-PMFBP1-4	chr16:72595872-72595985	ENSG00000261008.2
7	lnc-PMFBP1-4	chr16:72525803-72525865	ENSG00000261008.2
8	lnc-PMFBP1-4	chr16:72556213-72556522	NONHSAT143568
9	lnc-DHX38-12	chr16:72505482-72505995	NONHSAT143574
10	lnc-DHX38-3	chr16:72566858-72567788	XLOC_011780
11	lnc-PMFBP1-4	chr16:72604334-72604412	NONHSAT143568
12	lnc-PMFBP1-4	chr16:72505078-72505453	NONHSAT143568
13	lnc-DHX38-10	chr16:72498597-72498903	NONHSAT143571
14	lnc-PMFBP1-4	chr16:72495528-72496192	NONHSAT143568
15	lnc-PMFBP1-4	chr16:72574477-72574510	NONHSAT143568
16	lnc-DHX38-18	chr16:72532180-72532556	NONHSAT143581
17	lnc-PMFBP1-4	chr16:72556037-72556522	ENSG00000261008.2
18	lnc-PMFBP1-6	chr16:72499010-72499251	NONHSAT143572
19	lnc-PMFBP1-4	chr16:72589164-72589225	ENSG00000261008.2
20	lnc-DHX38-3	chr16:72563081-72563137	NONHSAT143584
21	lnc-PMFBP1-4	chr16:72604334-72604414	ENSG00000261008.2
22	lnc-DHX38-11	chr16:72501082-72501436	NONHSAT143573
23	lnc-DHX38-3	chr16:72567754-72568088	NONHSAT143586
24	lnc-PMFBP1-4	chr16:72557231-72557314	ENSG00000261008.2
25	lnc-PMFBP1-4	chr16:72574477-72574510	ENSG00000261008.2
26	lnc-DHX38-18	chr16:72531937-72532168	NONHSAT143581
27	lnc-DHX38-17	chr16:72525180-72526035	NONHSAT143580
28	lnc-PMFBP1-4	chr16:72557231-72557314	ENSG00000261008.2
29	lnc-DHX38-19	chr16:72564835-72566251	NONHSAT143585
30	lnc-PMFBP1-4	chr16:72557231-72557314	ENSG00000261008.2
31	lnc-DHX38-3	chr16:72567994-72568195	NONHSAT143584
32	lnc-PMFBP1-4	chr16:72604380-72604414	ENSG00000261008.2
33	lnc-PMFBP1-4	chr16:72589164-72589225	ENSG00000261008.2
34	lnc-DHX38-13	chr16:72509533-72509983	NONHSAT143575
35	lnc-PMFBP1-4	chr16:72589164-72589225	ENSG00000261008.2
36	lnc-DHX38-15	chr16:72520938-72521194	NONHSAT143578
37	lnc-PMFBP1-4	chr16:72589163-72589225	NONHSAT143568
38	lnc-PMFBP1-4	chr16:72604334-72604414	ENSG00000261008.2
39	lnc-DHX38-14	chr16:72512319-72512758	NONHSAT143576
40	lnc-PMFBP1-4	chr16:72513582-72513689	ENSG00000261008.2
41	lnc-ZFHX3-6	chr16:72608706-72609062	NONHSAT143590
42	lnc-PMFBP1-4	chr16:72557231-72557316	NONHSAT143568
43	lnc-DHX38-16	chr16:72522490-72524984	NONHSAT143579
44	lnc-PMFBP1-4	chr16:72574477-72574510	ENSG00000261008.2

No data

Variant related genes	Relation type
ENSG00000221286	TF binding region
ENSG00000221286	CpG island
ENSG00000259768	chromatin interactions
ENSG00000118557	chromatin interactions
ENSG00000261008	chromatin interactions
ENSG00000140836	chromatin interactions
EZR	miRNA target sites
EGR1	miRNA target sites
NHSL2	miRNA target sites
NIPBL	miRNA target sites
AKAP12	miRNA target sites

Extended variants
information (count: 5751 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:5751 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16970922	chr16:72464460-72464461	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561981085	chr16:72464481-72464482	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142510235	chr16:72464484-72464485	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12103027	chr16:72464491-72464492	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13336400	chr16:72464525-72464526	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs566397363	chr16:72464527-72464528	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544973807	chr16:72464551-72464552	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545179449	chr16:72464572-72464573	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540103748	chr16:72464598-72464599	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192143543	chr16:72464628-72464629	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570241189	chr16:72464650-72464651	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367640973	chr16:72464673-72464674	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537187602	chr16:72464685-72464686	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527900909	chr16:72464717-72464718	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62051132	chr16:72464747-72464748	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555428493	chr16:72464764-72464765	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573612275	chr16:72464861-72464862	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534612469	chr16:72464930-72464931	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552661805	chr16:72464932-72464933	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76950669	chr16:72464964-72464965	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79907288	chr16:72464985-72464986	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563192995	chr16:72465014-72465015	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575087296	chr16:72465047-72465048	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530097161	chr16:72465058-72465059	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2905694	chr16:72465084-72465085	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs184991052	chr16:72465091-72465092	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542854781	chr16:72465108-72465109	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529342775	chr16:72465122-72465123	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139507908	chr16:72465156-72465157	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529731641	chr16:72465164-72465165	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113839338	chr16:72465205-72465206	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559766748	chr16:72465211-72465212	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs143409278	chr16:72465212-72465213	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs28634932	chr16:72465219-72465220	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs200526737	chr16:72465307-72465308	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs528255828	chr16:72465330-72465331	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs537659138	chr16:72465333-72465334	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs187915073	chr16:72465372-72465373	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs571442855	chr16:72465382-72465383	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs533983502	chr16:72465400-72465401	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567375016	chr16:72465438-72465439	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77620484	chr16:72465465-72465466	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552579233	chr16:72465488-72465489	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375085526	chr16:72465522-72465523	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146717318	chr16:72465531-72465532	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538591424	chr16:72465541-72465542	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556847653	chr16:72465553-72465554	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575149543	chr16:72465557-72465558	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2336437	chr16:72465604-72465605	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs554432706	chr16:72465632-72465633	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72457200-72467600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:72458600-72464800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr16:72458600-72465400	Active TSS	Brain Substantia Nigra	brain
4	chr16:72458600-72465600	Active TSS	Brain Anterior Caudate	brain
5	chr16:72458600-72465800	Active TSS	Brain Angular Gyrus	brain
6	chr16:72458600-72465800	Active TSS	Brain Cingulate Gyrus	brain
7	chr16:72458800-72466000	Active TSS	Brain Hippocampus Middle	brain
8	chr16:72459000-72464800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:72460000-72471200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:72462000-72465800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr16:72463200-72464800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr16:72463800-72464600	Enhancers	Hela-S3	cervix
13	chr16:72464200-72466000	Enhancers	Fetal Brain Male	brain
14	chr16:72464400-72464600	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr16:72464400-72465200	Active TSS	Fetal Brain Female	brain
16	chr16:72464600-72465400	Active TSS	Brain Germinal Matrix	brain
17	chr16:72464800-72465000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:72464800-72465400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr16:72464800-72467000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr16:72465000-72466400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:72465200-72465600	Flanking Active TSS	Fetal Brain Female	brain
22	chr16:72465400-72465600	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr16:72465400-72465600	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr16:72465400-72466400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:72465600-72465800	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr16:72465600-72465800	Active TSS	Brain Substantia Nigra	brain
27	chr16:72465600-72466200	Active TSS	Fetal Brain Female	brain
28	chr16:72465800-72467200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:72466400-72470800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr16:72467000-72470000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chr16:72467200-72469600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:72467600-72468000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:72467600-72468600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr16:72467600-72469200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:72469000-72470000	ZNF genes & repeats	Brain Germinal Matrix	brain
36	chr16:72469200-72470400	ZNF genes & repeats	Fetal Brain Female	brain
37	chr16:72470000-72474200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:72470400-72471000	Weak transcription	Fetal Brain Female	brain
39	chr16:72470800-72471000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:72470800-72474400	Weak transcription	Primary B cells from cord blood	blood
41	chr16:72471000-72472600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr16:72471200-72471400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr16:72472600-72475600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:72473400-72473800	Weak transcription	Fetal Brain Female	brain
45	chr16:72474000-72475000	ZNF genes & repeats	Brain Germinal Matrix	brain
46	chr16:72474200-72475200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr16:72474400-72475000	ZNF genes & repeats	Fetal Brain Female	brain
48	chr16:72475200-72478000	Enhancers	HepG2	liver
49	chr16:72475600-72478800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:72476200-72477200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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