Variant report

Variant	nsv1055807
Chromosome Location	chr16:72418417-72614308
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1502)
CpG islands
(count:612)
Chromatin interactive
region (count:52)
LncRNA
region (count:58)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1502 , 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	chr16:72600101-72600190	K562	blood:	n/a	n/a
2	ARID3A	chr16:72521340-72521396	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:72443237-72443615	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:72489949-72490982	HepG2	liver:	n/a	n/a
5	ARID3A	chr16:72434190-72434491	HepG2	liver:	n/a	n/a
6	ARID3A	chr16:72502532-72502843	HepG2	liver:	n/a	n/a
7	ARID3A	chr16:72476024-72476754	HepG2	liver:	n/a	n/a
8	ARID3A	chr16:72503693-72504255	HepG2	liver:	n/a	n/a
9	ARID3A	chr16:72449206-72449825	HepG2	liver:	n/a	n/a
10	ATF1	chr16:72536079-72536345	K562	blood:	n/a	n/a
11	ATF1	chr16:72533635-72533801	K562	blood:	n/a	n/a
12	ATF1	chr16:72451679-72451725	K562	blood:	n/a	n/a
13	ATF3	chr16:72588963-72589148	K562	blood:	n/a	n/a
14	BATF	chr16:72536076-72536309	GM12878	blood:	n/a	n/a
15	BATF	chr16:72516615-72516984	GM12878	blood:	n/a	n/a
16	BCLAF1	chr16:72535929-72536443	GM12878	blood:	n/a	n/a
17	BHLHE40	chr16:72536111-72536338	K562	blood:	n/a	n/a
18	BHLHE40	chr16:72449435-72449541	HepG2	liver:	n/a	n/a
19	BHLHE40	chr16:72476323-72476654	HepG2	liver:	n/a	n/a
20	BHLHE40	chr16:72536033-72536496	GM12878	blood:	n/a	n/a
21	BHLHE40	chr16:72587474-72587506	K562	blood:	n/a	n/a
22	BRCA1	chr16:72548113-72548248	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr16:72501138-72501387	H1-hESC	embryonic stem cell:	n/a	n/a
24	CBX3	chr16:72468064-72468385	K562	blood:	n/a	n/a
25	CBX3	chr16:72468148-72468413	HCT-116	colon:	n/a	n/a
26	CBX3	chr16:72508334-72508886	HCT-116	colon:	n/a	n/a
27	CBX3	chr16:72508250-72508877	HCT-116	colon:	n/a	n/a
28	CBX3	chr16:72468096-72468386	K562	blood:	n/a	n/a
29	CBX3	chr16:72468054-72468449	HCT-116	colon:	n/a	n/a
30	CCNT2	chr16:72584877-72584996	K562	blood:	n/a	n/a
31	CEBPB	chr16:72467620-72467937	IMR90	lung:	n/a	chr16:72467757-72467768
32	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
33	CEBPB	chr16:72489981-72490479	HepG2	liver:	n/a	n/a
34	CEBPB	chr16:72434109-72434474	IMR90	lung:	n/a	chr16:72434279-72434290
35	CEBPB	chr16:72467662-72467936	A549	lung:	n/a	chr16:72467757-72467768
36	CEBPB	chr16:72476361-72476726	HepG2	liver:	n/a	n/a
37	CEBPB	chr16:72463921-72464435	Hela-S3	cervix:	n/a	n/a
38	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
39	CEBPB	chr16:72558342-72558529	HepG2	liver:	n/a	chr16:72558413-72558424
40	CEBPB	chr16:72448638-72448790	HepG2	liver:	n/a	chr16:72448752-72448763
41	CEBPB	chr16:72434120-72434393	K562	blood:	n/a	chr16:72434279-72434290
42	CEBPB	chr16:72603627-72603940	A549	lung:	n/a	chr16:72603775-72603786
43	CEBPB	chr16:72588930-72589214	HepG2	liver:	n/a	chr16:72589069-72589080
44	CEBPB	chr16:72498233-72498396	HepG2	liver:	n/a	n/a
45	CEBPB	chr16:72434133-72434500	MCF-7	breast:	n/a	chr16:72434279-72434290
46	CEBPB	chr16:72603651-72603820	HepG2	liver:	n/a	chr16:72603775-72603786
47	CEBPB	chr16:72507959-72508207	HepG2	liver:	n/a	n/a
48	CEBPB	chr16:72588914-72589193	K562	blood:	n/a	chr16:72589069-72589080
49	CEBPB	chr16:72603621-72603944	K562	blood:	n/a	chr16:72603775-72603786
50	CEBPB	chr16:72434127-72434468	HepG2	liver:	n/a	chr16:72434279-72434290

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:72460083-72460133	MCF10A-Er-Src	breast:	n/a
2	chr16:72444626-72444676	HepG2	liver:	n/a
3	chr16:72460083-72460133	MCF10A-Er-Src	breast:	n/a
4	chr16:72444626-72444676	HepG2	liver:	n/a
5	chr16:72460114-72460164	SKMC	muscle:	n/a
6	chr16:72459796-72459846	NH-A	brain:	n/a
7	chr16:72459595-72459645	AG09309	skin:	n/a
8	chr16:72459825-72459875	U87	brain:	n/a
9	chr16:72459516-72459566	ovcar-3	ovarian:	n/a
10	chr16:72460083-72460133	ProgFib	skin:	n/a
11	chr16:72516874-72516924	HRE	kidney:	n/a
12	chr16:72459796-72459846	HAEpiC	amniotic membrane:	n/a
13	chr16:72516874-72516924	PFSK-1	brain:	n/a
14	chr16:72459595-72459645	SK-N-SH_RA	brain:	n/a
15	chr16:72444626-72444676	GM12891	blood:	n/a
16	chr16:72459978-72460028	HL-60	blood:	n/a
17	chr16:72516874-72516924	HNPCEpiC	eye:	n/a
18	chr16:72602838-72602888	GM06990	blood:	n/a
19	chr16:72516874-72516924	PrEC	prostate:	n/a
20	chr16:72602838-72602888	IMR90	lung:	fetal
21	chr16:72459825-72459875	LNCaP	prostate:	n/a
22	chr16:72459825-72459875	HIPEpiC	eye:	n/a
23	chr16:72444626-72444676	PrEC	prostate:	n/a
24	chr16:72460083-72460133	IMR90	lung:	fetal
25	chr16:72516874-72516924	MCF-7	breast:	n/a
26	chr16:72460083-72460133	GM06990	blood:	n/a
27	chr16:72602838-72602888	AG04449	skin:	fetal
28	chr16:72444626-72444676	T-47D	breast:	n/a
29	chr16:72444626-72444676	SK-N-SH_RA	brain:	n/a
30	chr16:72459595-72459645	U87	brain:	n/a
31	chr16:72459595-72459645	H1-hESC	embryonic stem cell:	embryo
32	chr16:72602838-72602888	T-47D	breast:	n/a
33	chr16:72459595-72459645	NHBE	bronchial:	n/a
34	chr16:72459796-72459846	NT2-D1	testis:	n/a
35	chr16:72460083-72460133	BJ	skin:	n/a
36	chr16:72459978-72460028	LNCaP	prostate:	n/a
37	chr16:72602838-72602888	HRE	kidney:	n/a
38	chr16:72459595-72459645	K562	blood:	n/a
39	chr16:72460083-72460133	HL-60	blood:	n/a
40	chr16:72460114-72460164	BE2_C	brain:	n/a
41	chr16:72460083-72460133	ovcar-3	ovarian:	n/a
42	chr16:72459516-72459566	GM12891	blood:	n/a
43	chr16:72459595-72459645	HL-60	blood:	n/a
44	chr16:72516874-72516924	SK-N-SH_RA	brain:	n/a
45	chr16:72444626-72444676	NH-A	brain:	n/a
46	chr16:72459595-72459645	CMK	blood:	n/a
47	chr16:72459796-72459846	BE2_C	brain:	n/a
48	chr16:72444626-72444676	BJ	skin:	n/a
49	chr16:72459595-72459645	MCF-7	breast:	n/a
50	chr16:72460114-72460164	HepG2	liver:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:72453071..72454725-chr16:72457023..72458717,2	MCF-7	breast:
2	chr16:72535525..72537335-chr16:73089381..73091034,2	MCF-7	breast:
3	chr16:72495627..72498619-chr16:72502820..72505765,2	K562	blood:
4	chr16:72433824..72434833-chr16:72500385..72501774,13	MCF-7	breast:
5	chr16:72563523..72565627-chr16:72572484..72574006,2	MCF-7	breast:
6	chr16:72563523..72565627-chr16:72572484..72574006,2	MCF-7	breast:
7	chr16:72275512..72276382-chr16:72500748..72501728,5	MCF-7	breast:
8	chr16:72503607..72506590-chr16:72509410..72511219,2	K562	blood:
9	chr16:72425503..72427472-chr16:72432559..72435095,2	MCF-7	breast:
10	chr16:72535869..72536485-chr16:72866539..72867122,2	MCF-7	breast:
11	chr16:72503607..72506590-chr16:72509410..72511219,2	K562	blood:
12	chr16:72444090..72445651-chr16:72450637..72452922,2	K562	blood:
13	chr16:72412222..72413833-chr16:72418012..72420892,2	K562	blood:
14	chr16:72522187..72523769-chr16:72524456..72527428,2	MCF-7	breast:
15	chr16:72533667..72535695-chr16:73091048..73092778,3	MCF-7	breast:
16	chr16:72444079..72445651-chr16:72450697..72452922,2	K562	blood:
17	chr16:72437157..72440577-chr16:72442947..72444634,3	MCF-7	breast:
18	chr16:72437157..72440577-chr16:72442947..72444634,3	MCF-7	breast:
19	chr16:72504730..72507157-chr16:72516819..72518970,2	MCF-7	breast:
20	chr16:72433906..72434918-chr16:72500757..72501753,4	MCF-7	breast:
21	chr16:72582473..72585253-chr16:72697381..72699878,2	K562	blood:
22	chr16:72536827..72539367-chr16:73079618..73082367,2	MCF-7	breast:
23	chr16:72495627..72498619-chr16:72502820..72505765,2	K562	blood:
24	chr16:72433906..72434918-chr16:72500757..72501753,4	MCF-7	breast:
25	chr16:72158517..72159442-chr16:72500757..72501710,3	MCF-7	breast:
26	chr16:72468334..72468996-chr4:153881337..153881856,2	MCF-7	breast:
27	chr16:72533574..72535315-chr16:72549246..72551228,2	MCF-7	breast:
28	chr16:72504730..72507157-chr16:72516819..72518970,2	MCF-7	breast:
29	chr16:72565797..72567323-chr16:73081102..73083814,2	MCF-7	breast:
30	chr16:72412333..72415152-chr16:72418012..72419519,2	K562	blood:
31	chr16:72275348..72276522-chr16:72500758..72501765,11	MCF-7	breast:
32	chr16:72490089..72492930-chr16:72500761..72502582,2	MCF-7	breast:
33	chr16:72444090..72445651-chr16:72450637..72452922,2	K562	blood:
34	chr16:72275519..72276391-chr16:72500758..72501752,2	K562	blood:
35	chr16:72433824..72434833-chr16:72500385..72501774,13	MCF-7	breast:
36	chr16:72453071..72454725-chr16:72457023..72458717,2	MCF-7	breast:
37	chr16:72601285..72603828-chr16:72609527..72611174,2	MCF-7	breast:
38	chr16:72444079..72445651-chr16:72450697..72452922,2	K562	blood:
39	chr16:72500752..72501495-chr20:52194750..52195674,2	MCF-7	breast:
40	chr16:72472061..72473640-chr16:72477972..72479514,2	MCF-7	breast:
41	chr16:72425503..72427472-chr16:72432559..72435095,2	MCF-7	breast:
42	chr16:72533574..72535315-chr16:72549246..72551228,2	MCF-7	breast:
43	chr16:72522187..72523769-chr16:72524456..72527428,2	MCF-7	breast:
44	chr16:72508162..72510433-chr16:72510794..72512669,2	MCF-7	breast:
45	chr16:72490089..72492930-chr16:72500761..72502582,2	MCF-7	breast:
46	chr16:72391483..72394140-chr16:72422108..72424011,2	K562	blood:
47	chr16:72601285..72603828-chr16:72609527..72611174,2	MCF-7	breast:
48	chr16:72472061..72473640-chr16:72477972..72479514,2	MCF-7	breast:
49	chr16:72508162..72510433-chr16:72510794..72512669,2	MCF-7	breast:
50	chr16:72536168..72536728-chr16:73230597..73231356,2	MCF-7	breast:

(count:58 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DHX38-18	chr16:72532180-72532556	NONHSAT143581
2	lnc-DHX38-3	chr16:72463032-72464069	NONHSAT143569
3	lnc-PMFBP1-4	chr16:72604334-72604414	ENSG00000261008.2
4	lnc-DHX38-16	chr16:72522490-72524984	NONHSAT143579
5	lnc-PMFBP1-4	chr16:72495528-72496192	NONHSAT143568
6	lnc-PMFBP1-4	chr16:72557231-72557314	ENSG00000261008.2
7	lnc-PMFBP1-4	chr16:72604380-72604414	ENSG00000261008.2
8	lnc-PMFBP1-4	chr16:72461289-72461323	XLOC_012004
9	lnc-PMFBP1-4	chr16:72604334-72604412	NONHSAT143568
10	lnc-DHX38-13	chr16:72509533-72509983	NONHSAT143575
11	lnc-PMFBP1-4	chr16:72460772-72461356	NONHSAT143568
12	lnc-DHX38-3	chr16:72567754-72568088	NONHSAT143586
13	lnc-DHX38-8	chr16:72443091-72443098	FPKM1_group_11846_transcript_8
14	lnc-PMFBP1-4	chr16:72459384-72461356	ENSG00000261008.2
15	lnc-PMFBP1-4	chr16:72574477-72574510	ENSG00000261008.2
16	lnc-PMFBP1-4	chr16:72556037-72556522	ENSG00000261008.2
17	lnc-DHX38-14	chr16:72512319-72512758	NONHSAT143576
18	lnc-PMFBP1-4	chr16:72595872-72595985	ENSG00000261008.2
19	lnc-PMFBP1-4	chr16:72604334-72604414	ENSG00000261008.2
20	lnc-PMFBP1-4	chr16:72525803-72525865	ENSG00000261008.2
21	lnc-ZFHX3-6	chr16:72608706-72609062	NONHSAT143590
22	lnc-PMFBP1-4	chr16:72557231-72557314	ENSG00000261008.2
23	lnc-PMFBP1-4	chr16:72574477-72574510	NONHSAT143568
24	lnc-DHX38-2	chr16:72459847-72463072	ENSG00000260664.1
25	lnc-PMFBP1-4	chr16:72589164-72589225	ENSG00000261008.2
26	lnc-DHX38-3	chr16:72567994-72568195	NONHSAT143584
27	lnc-PMFBP1-4	chr16:72604350-72604414	ENSG00000261008.2
28	lnc-DHX38-19	chr16:72564835-72566251	NONHSAT143585
29	lnc-PMFBP1-4	chr16:72589164-72589225	ENSG00000261008.2
30	lnc-PMFBP1-4	chr16:72589163-72589225	NONHSAT143568
31	lnc-DHX38-9	chr16:72447198-72449553	NONHSAT143564
32	lnc-PMFBP1-4	chr16:72557231-72557316	NONHSAT143568
33	lnc-PMFBP1-4	chr16:72513650-72513689	ENSG00000261008.2
34	lnc-DHX38-8	chr16:72431613-72432355	FPKM1_group_11846_transcript_8
35	lnc-DHX38-12	chr16:72505482-72505995	NONHSAT143574
36	lnc-DHX38-10	chr16:72498597-72498903	NONHSAT143571
37	lnc-DHX38-17	chr16:72525180-72526035	NONHSAT143580
38	lnc-PMFBP1-4	chr16:72556213-72556522	NONHSAT143568
39	lnc-PMFBP1-4	chr16:72557231-72557314	ENSG00000261008.2
40	lnc-DHX38-11	chr16:72501082-72501436	NONHSAT143573
41	lnc-ZFHX3-5	chr16:72611537-72611982	NONHSAT143591
42	lnc-PMFBP1-4	chr16:72513582-72513689	ENSG00000261008.2
43	lnc-DHX38-21	chr16:72571458-72572196	NONHSAT143588
44	lnc-DHX38-3	chr16:72563081-72563137	NONHSAT143584
45	lnc-PMFBP1-4	chr16:72574477-72574510	ENSG00000261008.2
46	lnc-DHX38-3	chr16:72566858-72567788	XLOC_011780
47	lnc-DHX38-3	chr16:72463252-72463962	XLOC_011780
48	lnc-PMFBP1-6	chr16:72499010-72499251	NONHSAT143572
49	lnc-PMFBP1-4	chr16:72505078-72505453	NONHSAT143568
50	lnc-DHX38-20	chr16:72568314-72569463	NONHSAT143587

No data

Variant related genes	Relation type
ENSG00000221286	TF binding region
ENSG00000260664	TF binding region
ENSG00000221286	CpG island
ENSG00000260664	CpG island
ENSG00000259768	chromatin interactions
ENSG00000140836	chromatin interactions
ENSG00000261008	chromatin interactions
ENSG00000118557	chromatin interactions
ZCCHC14	miRNA target sites
RC3H2	miRNA target sites
SUV420H1	miRNA target sites
AKAP12	miRNA target sites
EGR1	miRNA target sites
NHSL2	miRNA target sites
NIPBL	miRNA target sites
EZR	miRNA target sites

Extended variants
information (count: 6695 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:6695 , 50 per page) page: 1 2 3 4 5 6 7 ... 134

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559340991	chr16:72418418-72418419	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577445679	chr16:72418423-72418424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs544515081	chr16:72418445-72418446	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556734020	chr16:72418507-72418508	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs148290514	chr16:72418516-72418517	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs541531448	chr16:72418561-72418562	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs559772523	chr16:72418587-72418588	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs527325477	chr16:72418601-72418602	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs545389426	chr16:72418633-72418634	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs564065727	chr16:72418662-72418663	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs190540327	chr16:72418665-72418666	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549772381	chr16:72418676-72418677	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs568266924	chr16:72418710-72418711	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs563439723	chr16:72418796-72418797	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs141475021	chr16:72418851-72418852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs548741322	chr16:72418855-72418856	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs566968981	chr16:72418861-72418862	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs535246431	chr16:72418952-72418953	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs150417372	chr16:72418986-72418987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201653042	chr16:72418989-72418990	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs116408816	chr16:72418992-72418993	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs138211660	chr16:72419019-72419020	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs181854200	chr16:72419030-72419031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs811560	chr16:72419071-72419072	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs574984633	chr16:72419072-72419073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs542006549	chr16:72419088-72419089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76240037	chr16:72419091-72419092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs71156108	chr16:72419092-72419093	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs78765075	chr16:72419093-72419094	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs397710345	chr16:72419094-72419095	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs111593996	chr16:72419146-72419147	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs571784372	chr16:72419171-72419172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs545428208	chr16:72419222-72419223	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs185140100	chr16:72419229-72419230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs547769131	chr16:72419248-72419249	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs534877456	chr16:72419284-72419285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs189664749	chr16:72419287-72419288	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs144033400	chr16:72419338-72419339	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs147294397	chr16:72419342-72419343	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547593815	chr16:72419380-72419381	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs556997016	chr16:72419395-72419396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs367630335	chr16:72419422-72419423	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs527805055	chr16:72419455-72419456	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs552676817	chr16:72419511-72419512	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs181088683	chr16:72419521-72419522	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs537812346	chr16:72419588-72419589	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs185348055	chr16:72419710-72419711	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs188470286	chr16:72419717-72419718	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs553897271	chr16:72419732-72419733	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs180785498	chr16:72419756-72419757	Weak transcription ZNF genes & repeats	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:753 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72367200-72423600	Weak transcription	Thymus	Thymus
2	chr16:72400600-72422200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:72400800-72420000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr16:72405600-72420000	Weak transcription	Primary B cells from cord blood	blood
5	chr16:72407600-72420800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr16:72407600-72426400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:72410600-72420800	Weak transcription	Dnd41	blood
8	chr16:72414400-72422400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:72414800-72438800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:72415400-72426400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:72420000-72421200	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr16:72420000-72423000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr16:72420000-72423800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr16:72420800-72421200	ZNF genes & repeats	Dnd41	blood
15	chr16:72420800-72422000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
16	chr16:72421000-72421200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr16:72421000-72423800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:72421000-72424000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:72421200-72421800	Weak transcription	Primary B cells from cord blood	blood
20	chr16:72421200-72422200	Weak transcription	Dnd41	blood
21	chr16:72421200-72422600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr16:72421200-72425600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr16:72421600-72423600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr16:72421600-72424800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:72421800-72422000	Strong transcription	Primary B cells from cord blood	blood
26	chr16:72421800-72424200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr16:72421800-72424400	Weak transcription	Primary T cells from cord blood	blood
28	chr16:72422000-72422200	Weak transcription	Primary B cells from cord blood	blood
29	chr16:72422200-72422800	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr16:72422200-72424000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:72422200-72424000	ZNF genes & repeats	Dnd41	blood
32	chr16:72422600-72423400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr16:72422600-72423800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr16:72422600-72423800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:72422600-72425000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr16:72422800-72423600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:72422800-72424000	Strong transcription	Primary B cells from cord blood	blood
38	chr16:72423000-72423800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr16:72423000-72424000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr16:72423000-72426400	Weak transcription	Pancreas	Pancrea
41	chr16:72423600-72424000	Strong transcription	Thymus	Thymus
42	chr16:72423600-72425000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr16:72423800-72424000	Weak transcription	HepG2	liver
44	chr16:72423800-72424200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:72423800-72424200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr16:72423800-72426400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr16:72424000-72424200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:72424000-72426600	Weak transcription	Thymus	Thymus
49	chr16:72424000-72427200	Weak transcription	Primary B cells from cord blood	blood
50	chr16:72424000-72427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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