Variant report

Variant	nsv542947
Chromosome Location	chr16:72342110-72537808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1401)
CpG islands
(count:734)
Chromatin interactive
region (count:53)
LncRNA
region (count:42)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1401 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:72502532-72502843	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:72342715-72343413	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:72503693-72504255	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:72476024-72476754	HepG2	liver:	n/a	n/a
5	ARID3A	chr16:72489949-72490982	HepG2	liver:	n/a	n/a
6	ARID3A	chr16:72449206-72449825	HepG2	liver:	n/a	n/a
7	ARID3A	chr16:72396487-72396686	HepG2	liver:	n/a	n/a
8	ARID3A	chr16:72443237-72443615	HepG2	liver:	n/a	n/a
9	ARID3A	chr16:72521340-72521396	HepG2	liver:	n/a	n/a
10	ARID3A	chr16:72434190-72434491	HepG2	liver:	n/a	n/a
11	ATF1	chr16:72451679-72451725	K562	blood:	n/a	n/a
12	ATF1	chr16:72536079-72536345	K562	blood:	n/a	n/a
13	ATF1	chr16:72533635-72533801	K562	blood:	n/a	n/a
14	ATF2	chr16:72405175-72405474	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr16:72405244-72405582	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr16:72516615-72516984	GM12878	blood:	n/a	n/a
17	BATF	chr16:72536076-72536309	GM12878	blood:	n/a	n/a
18	BCLAF1	chr16:72535929-72536443	GM12878	blood:	n/a	n/a
19	BHLHE40	chr16:72476323-72476654	HepG2	liver:	n/a	n/a
20	BHLHE40	chr16:72449435-72449541	HepG2	liver:	n/a	n/a
21	BHLHE40	chr16:72536033-72536496	GM12878	blood:	n/a	n/a
22	BHLHE40	chr16:72536111-72536338	K562	blood:	n/a	n/a
23	BRCA1	chr16:72501138-72501387	H1-hESC	embryonic stem cell:	n/a	n/a
24	CBX3	chr16:72508250-72508877	HCT-116	colon:	n/a	n/a
25	CBX3	chr16:72468096-72468386	K562	blood:	n/a	n/a
26	CBX3	chr16:72508334-72508886	HCT-116	colon:	n/a	n/a
27	CBX3	chr16:72468148-72468413	HCT-116	colon:	n/a	n/a
28	CBX3	chr16:72468064-72468385	K562	blood:	n/a	n/a
29	CBX3	chr16:72468054-72468449	HCT-116	colon:	n/a	n/a
30	CEBPB	chr16:72467598-72467921	HepG2	liver:	n/a	chr16:72467757-72467768
31	CEBPB	chr16:72495920-72496060	A549	lung:	n/a	n/a
32	CEBPB	chr16:72405791-72406010	HepG2	liver:	n/a	n/a
33	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
34	CEBPB	chr16:72471884-72472154	H1-hESC	embryonic stem cell:	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
35	CEBPB	chr16:72434115-72434520	H1-hESC	embryonic stem cell:	n/a	chr16:72434279-72434290
36	CEBPB	chr16:72434133-72434500	MCF-7	breast:	n/a	chr16:72434279-72434290
37	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
38	CEBPB	chr16:72498233-72498396	HepG2	liver:	n/a	n/a
39	CEBPB	chr16:72434145-72434492	A549	lung:	n/a	chr16:72434279-72434290
40	CEBPB	chr16:72463921-72464435	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr16:72445756-72445843	IMR90	lung:	n/a	n/a
42	CEBPB	chr16:72476405-72476605	HepG2	liver:	n/a	n/a
43	CEBPB	chr16:72434025-72434511	MCF-7	breast:	n/a	chr16:72434279-72434290
44	CEBPB	chr16:72434219-72434411	HepG2	liver:	n/a	chr16:72434279-72434290
45	CEBPB	chr16:72405297-72405577	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr16:72471811-72472165	K562	blood:	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
47	CEBPB	chr16:72342939-72343313	HepG2	liver:	n/a	n/a
48	CEBPB	chr16:72489981-72490479	HepG2	liver:	n/a	n/a
49	CEBPB	chr16:72389029-72389225	HepG2	liver:	n/a	chr16:72389119-72389130
50	CEBPB	chr16:72434109-72434474	IMR90	lung:	n/a	chr16:72434279-72434290

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:72444626-72444676	GM12892	blood:	n/a
2	chr16:72444626-72444676	ECC-1	luminal epithelium:	n/a
3	chr16:72444626-72444676	GM12892	blood:	n/a
4	chr16:72444626-72444676	ECC-1	luminal epithelium:	n/a
5	chr16:72459796-72459846	K562	blood:	n/a
6	chr16:72459516-72459566	AG04449	skin:	fetal
7	chr16:72459516-72459566	AG10803	skin:	n/a
8	chr16:72405329-72405379	CMK	blood:	n/a
9	chr16:72516874-72516924	Caco-2	colon:	n/a
10	chr16:72444626-72444676	HMEC	breast:	n/a
11	chr16:72459516-72459566	GM19239	blood:	n/a
12	chr16:72392048-72392098	HRPEpiC	eye:	n/a
13	chr16:72460114-72460164	AG04449	skin:	fetal
14	chr16:72347829-72347879	GM06990	blood:	n/a
15	chr16:72459978-72460028	GM12878	blood:	n/a
16	chr16:72459825-72459875	AoSMC	blood vessel:	n/a
17	chr16:72347829-72347879	SK-N-SH	brain:	n/a
18	chr16:72460083-72460133	NB4	blood:	n/a
19	chr16:72460083-72460133	HRPEpiC	eye:	n/a
20	chr16:72460114-72460164	HEEpiC	esophagus:	n/a
21	chr16:72459516-72459566	AG09309	skin:	n/a
22	chr16:72459516-72459566	NB4	blood:	n/a
23	chr16:72459978-72460028	AG09309	skin:	n/a
24	chr16:72460083-72460133	K562	blood:	n/a
25	chr16:72459978-72460028	SK-N-SH_RA	brain:	n/a
26	chr16:72459595-72459645	HUVEC	blood vessel:	n/a
27	chr16:72460083-72460133	Caco-2	colon:	n/a
28	chr16:72516874-72516924	HRPEpiC	eye:	n/a
29	chr16:72405329-72405379	NHDF-neo	bronchial:	n/a
30	chr16:72459978-72460028	IMR90	lung:	fetal
31	chr16:72459796-72459846	Caco-2	colon:	n/a
32	chr16:72460114-72460164	GM12891	blood:	n/a
33	chr16:72460083-72460133	HL-60	blood:	n/a
34	chr16:72516874-72516924	HEEpiC	esophagus:	n/a
35	chr16:72459595-72459645	MCF-7	breast:	n/a
36	chr16:72347829-72347879	SK-N-SH_RA	brain:	n/a
37	chr16:72516874-72516924	ovcar-3	ovarian:	n/a
38	chr16:72516874-72516924	H1-hESC	embryonic stem cell:	embryo
39	chr16:72405329-72405379	SK-N-MC	brain:	n/a
40	chr16:72460083-72460133	ProgFib	skin:	n/a
41	chr16:72444626-72444676	HepG2	liver:	n/a
42	chr16:72460114-72460164	ECC-1	luminal epithelium:	n/a
43	chr16:72460114-72460164	ProgFib	skin:	n/a
44	chr16:72459595-72459645	CMK	blood:	n/a
45	chr16:72459516-72459566	NH-A	brain:	n/a
46	chr16:72459978-72460028	SK-N-SH	brain:	n/a
47	chr16:72392048-72392098	MCF-7	breast:	n/a
48	chr16:72459796-72459846	AG10803	skin:	n/a
49	chr16:72444626-72444676	AG09319	gingival:	n/a
50	chr16:72392048-72392098	GM19239	blood:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:72495627..72498619-chr16:72502820..72505765,2	K562	blood:
2	chr16:72425503..72427472-chr16:72432559..72435095,2	MCF-7	breast:
3	chr16:72391765..72393568-chr16:72393614..72396584,2	K562	blood:
4	chr16:72444090..72445651-chr16:72450637..72452922,2	K562	blood:
5	chr16:72533667..72535695-chr16:73091048..73092778,3	MCF-7	breast:
6	chr16:72453071..72454725-chr16:72457023..72458717,2	MCF-7	breast:
7	chr16:72504730..72507157-chr16:72516819..72518970,2	MCF-7	breast:
8	chr16:72412333..72415152-chr16:72418012..72419519,2	K562	blood:
9	chr16:72535746..72536637-chr16:72880692..72881312,4	MCF-7	breast:
10	chr16:72522187..72523769-chr16:72524456..72527428,2	MCF-7	breast:
11	chr16:72444079..72445651-chr16:72450697..72452922,2	K562	blood:
12	chr16:72536168..72536728-chr16:73230597..73231356,2	MCF-7	breast:
13	chr16:72412222..72413833-chr16:72418012..72420892,2	K562	blood:
14	chr16:72158517..72159442-chr16:72500757..72501710,3	MCF-7	breast:
15	chr16:72468334..72468996-chr4:153881337..153881856,2	MCF-7	breast:
16	chr16:72425503..72427472-chr16:72432559..72435095,2	MCF-7	breast:
17	chr16:72444090..72445651-chr16:72450637..72452922,2	K562	blood:
18	chr16:72391765..72393568-chr16:72393614..72396584,2	K562	blood:
19	chr16:72391483..72394140-chr16:72422108..72424011,2	K562	blood:
20	chr16:72275348..72276522-chr16:72500758..72501765,11	MCF-7	breast:
21	chr16:72392317..72394790-chr16:72403681..72405452,2	K562	blood:
22	chr16:72522187..72523769-chr16:72524456..72527428,2	MCF-7	breast:
23	chr16:72392062..72394300-chr16:72394460..72396793,2	MCF-7	breast:
24	chr16:72437157..72440577-chr16:72442947..72444634,3	MCF-7	breast:
25	chr16:72490089..72492930-chr16:72500761..72502582,2	MCF-7	breast:
26	chr16:72433824..72434833-chr16:72500385..72501774,13	MCF-7	breast:
27	chr16:72437157..72440577-chr16:72442947..72444634,3	MCF-7	breast:
28	chr16:72444079..72445651-chr16:72450697..72452922,2	K562	blood:
29	chr16:72504730..72507157-chr16:72516819..72518970,2	MCF-7	breast:
30	chr16:72472061..72473640-chr16:72477972..72479514,2	MCF-7	breast:
31	chr16:72503607..72506590-chr16:72509410..72511219,2	K562	blood:
32	chr16:72535525..72537335-chr16:73089381..73091034,2	MCF-7	breast:
33	chr16:72503607..72506590-chr16:72509410..72511219,2	K562	blood:
34	chr16:72433906..72434918-chr16:72500757..72501753,4	MCF-7	breast:
35	chr16:72412333..72415152-chr16:72418012..72419519,2	K562	blood:
36	chr16:72433824..72434833-chr16:72500385..72501774,13	MCF-7	breast:
37	chr16:72275512..72276382-chr16:72500748..72501728,5	MCF-7	breast:
38	chr16:72533574..72535315-chr16:72549246..72551228,2	MCF-7	breast:
39	chr16:72536827..72539367-chr16:73079618..73082367,2	MCF-7	breast:
40	chr16:72433906..72434918-chr16:72500757..72501753,4	MCF-7	breast:
41	chr16:72535869..72536485-chr16:72866539..72867122,2	MCF-7	breast:
42	chr16:72391483..72394140-chr16:72422108..72424011,2	K562	blood:
43	chr16:72490089..72492930-chr16:72500761..72502582,2	MCF-7	breast:
44	chr16:72392317..72394790-chr16:72403681..72405452,2	K562	blood:
45	chr16:72508162..72510433-chr16:72510794..72512669,2	MCF-7	breast:
46	chr16:72392062..72394300-chr16:72394460..72396793,2	MCF-7	breast:
47	chr16:72453071..72454725-chr16:72457023..72458717,2	MCF-7	breast:
48	chr16:72275519..72276391-chr16:72500758..72501752,2	K562	blood:
49	chr16:72412222..72413833-chr16:72418012..72420892,2	K562	blood:
50	chr16:72495627..72498619-chr16:72502820..72505765,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DHX38-8	chr16:72431613-72432355	NONHSAT143563
2	lnc-DHX38-7	chr16:72366366-72366774	l_1359_chr16:72355558-72366490_testes
3	lnc-DHX38-7	chr16:72362150-72362334	l_1359_chr16:72355558-72366490_testes
4	lnc-PMFBP1-3	chr16:72391523-72392089	NONHSAT143557
5	lnc-PMFBP1-6	chr16:72499010-72499251	NONHSAT143572
6	lnc-DHX38-8	chr16:72443091-72443098	FPKM1_group_11846_transcript_8
7	lnc-DHX38-7	chr16:72357799-72358069	l_1359_chr16:72355558-72366490_testes
8	lnc-PMFBP1-4	chr16:72459384-72461356	ENSG00000261008.2
9	lnc-DHX38-7	chr16:72359645-72360002	l_1359_chr16:72355558-72366490_testes
10	lnc-PMFBP1-4	chr16:72495528-72496192	NONHSAT143568
11	lnc-DHX38-10	chr16:72498597-72498903	NONHSAT143571
12	lnc-PMFBP1-4	chr16:72513582-72513689	ENSG00000261008.2
13	lnc-PMFBP1-4	chr16:72505078-72505453	NONHSAT143568
14	lnc-PMFBP1-4	chr16:72513650-72513689	ENSG00000261008.2
15	lnc-PMFBP1-3	chr16:72355299-72355336	NONHSAT143557
16	lnc-DHX38-12	chr16:72505482-72505995	NONHSAT143574
17	lnc-DHX38-15	chr16:72520938-72521194	NONHSAT143578
18	lnc-PMFBP1-3	chr16:72380224-72380971	NONHSAT143557
19	lnc-DHX38-7	chr16:72355559-72355587	l_1359_chr16:72355558-72366490_testes
20	lnc-DHX38-2	chr16:72459847-72463072	ENSG00000260664.1
21	lnc-PMFBP1-4	chr16:72425087-72425114	XLOC_012004
22	lnc-DHX38-13	chr16:72509533-72509983	NONHSAT143575
23	lnc-PMFBP1-3	chr16:72371225-72371852	NONHSAT143557
24	lnc-PMFBP1-4	chr16:72460772-72461356	NONHSAT143568
25	lnc-DHX38-7	chr16:72355906-72356108	l_1359_chr16:72355558-72366490_testes
26	lnc-DHX38-3	chr16:72463032-72464069	NONHSAT143569
27	lnc-PMFBP1-3	chr16:72391412-72391517	NONHSAT143557
28	lnc-DHX38-3	chr16:72463252-72463962	XLOC_011780
29	lnc-DHX38-14	chr16:72512319-72512758	NONHSAT143576
30	lnc-PMFBP1-4	chr16:72459901-72460166	XLOC_012004
31	lnc-DHX38-16	chr16:72522490-72524984	NONHSAT143579
32	lnc-DHX38-17	chr16:72525180-72526035	NONHSAT143580
33	lnc-DHX38-18	chr16:72531937-72532168	NONHSAT143581
34	lnc-DHX38-11	chr16:72501082-72501436	NONHSAT143573
35	lnc-PMFBP1-4	chr16:72461289-72461323	XLOC_012004
36	lnc-PMFBP1-4	chr16:72461289-72463966	XLOC_012004
37	lnc-DHX38-18	chr16:72532180-72532556	NONHSAT143581
38	lnc-DHX38-8	chr16:72443091-72443170	NONHSAT143563
39	lnc-PMFBP1-3	chr16:72368022-72368507	NONHSAT143557
40	lnc-PMFBP1-4	chr16:72525803-72525865	ENSG00000261008.2
41	lnc-DHX38-9	chr16:72447198-72449553	NONHSAT143564
42	lnc-DHX38-8	chr16:72431613-72432355	FPKM1_group_11846_transcript_8

No data

Variant related genes	Relation type
ENSG00000260664	TF binding region
RNU6-385P	TF binding region
ENSG00000260664	CpG island
RNU6-385P	CpG island
ENSG00000118557	chromatin interactions
ENSG00000140836	chromatin interactions
SUV420H1	miRNA target sites
ZCCHC14	miRNA target sites
AKAP12	miRNA target sites
RC3H2	miRNA target sites
NIPBL	miRNA target sites

Extended variants
information (count: 6686 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:6686 , 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	rs551501696	chr16:72342119-72342120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560548102	chr16:72342141-72342142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537063950	chr16:72342143-72342144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190160138	chr16:72342149-72342150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567231176	chr16:72342171-72342172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182424898	chr16:72342244-72342245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561928185	chr16:72342245-72342246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs8046891	chr16:72342280-72342281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145675330	chr16:72342312-72342313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78325140	chr16:72342430-72342431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538400197	chr16:72342431-72342432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199968694	chr16:72342441-72342442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185180492	chr16:72342444-72342445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576427328	chr16:72342459-72342460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377343409	chr16:72342481-72342482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543823109	chr16:72342553-72342554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147314028	chr16:72342581-72342582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192381520	chr16:72342600-72342601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183645583	chr16:72342606-72342607	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541790694	chr16:72342620-72342621	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188694398	chr16:72342645-72342646	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148796592	chr16:72342687-72342688	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545582686	chr16:72342695-72342696	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370313024	chr16:72342709-72342710	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563418660	chr16:72342761-72342762	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530547153	chr16:72342762-72342763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549046925	chr16:72342797-72342798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567190879	chr16:72342855-72342856	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527917486	chr16:72342856-72342857	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528086423	chr16:72342967-72342968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78589228	chr16:72342969-72342970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571169596	chr16:72342993-72342994	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113483165	chr16:72342998-72342999	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556712777	chr16:72343001-72343002	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549542187	chr16:72343033-72343034	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533474364	chr16:72343066-72343067	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537186567	chr16:72343143-72343144	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555824623	chr16:72343171-72343172	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191747967	chr16:72343224-72343225	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs150927635	chr16:72343266-72343267	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs547006263	chr16:72343277-72343278	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs386792000	chr16:72343280-72343281	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs373951490	chr16:72343296-72343297	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs28473657	chr16:72343297-72343298	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545693411	chr16:72343352-72343353	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs563763517	chr16:72343374-72343375	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs78645946	chr16:72343442-72343443	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs182866164	chr16:72343448-72343449	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs140792723	chr16:72343454-72343455	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs34581558	chr16:72343525-72343526	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

Chromatin state (count:896 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72315600-72353600	Weak transcription	Dnd41	blood
2	chr16:72325400-72342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:72336600-72342200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr16:72340000-72353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:72340600-72343200	Enhancers	HepG2	liver
6	chr16:72342600-72343600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:72343000-72343600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:72343200-72343400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:72343200-72343600	Flanking Active TSS	HepG2	liver
10	chr16:72343400-72343600	Enhancers	Ovary	ovary
11	chr16:72343400-72353000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:72343600-72343800	Enhancers	HepG2	liver
13	chr16:72343600-72345400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:72343600-72346400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:72344400-72347000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:72345200-72345400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:72345400-72345600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:72345400-72347200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:72345400-72359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:72345600-72346600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:72345600-72353000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:72345800-72346600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:72345800-72346800	Enhancers	Osteobl	bone
24	chr16:72346400-72346600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:72346400-72346600	Enhancers	Fetal Brain Female	brain
26	chr16:72346400-72346600	Enhancers	NHDF-Ad	bronchial
27	chr16:72346400-72346800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:72346400-72347000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:72346400-72347400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr16:72346400-72347400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:72346400-72347600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr16:72346600-72346800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:72346600-72346800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr16:72346600-72346800	Flanking Active TSS	NHDF-Ad	bronchial
35	chr16:72346600-72347000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:72346600-72347000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr16:72346600-72347000	Active TSS	Brain Angular Gyrus	brain
38	chr16:72346600-72347000	Active TSS	Brain Substantia Nigra	brain
39	chr16:72346600-72347000	Active TSS	Fetal Brain Male	brain
40	chr16:72346600-72347000	Active TSS	Fetal Brain Female	brain
41	chr16:72346600-72347200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:72346600-72347200	Active TSS	Brain Anterior Caudate	brain
43	chr16:72346600-72347400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:72346600-72347400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:72346800-72347000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:72346800-72347000	Enhancers	Gastric	stomach
47	chr16:72346800-72347000	Enhancers	Pancreas	Pancrea
48	chr16:72346800-72347000	Enhancers	NHDF-Ad	bronchial
49	chr16:72346800-72347200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr16:72346800-72347200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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