Variant report

Variant	nsv906917
Chromosome Location	chr16:75528511-75581160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1414)
CpG islands
(count:2138)
Chromatin interactive
region (count:99)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1414 , 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	chr16:75551252-75551631	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:75551044-75551602	K562	blood:	n/a	n/a
3	ARID3A	chr16:75561718-75562303	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:75540461-75540804	HepG2	liver:	n/a	n/a
5	ARID3A	chr16:75543367-75543781	K562	blood:	n/a	n/a
6	ARID3A	chr16:75540441-75540853	K562	blood:	n/a	n/a
7	ATF1	chr16:75540441-75540853	K562	blood:	n/a	n/a
8	ATF1	chr16:75551026-75551543	K562	blood:	n/a	n/a
9	ATF1	chr16:75543362-75543935	K562	blood:	n/a	n/a
10	ATF1	chr16:75539875-75540195	K562	blood:	n/a	n/a
11	ATF2	chr16:75550916-75551679	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr16:75551161-75551633	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr16:75543263-75543677	K562	blood:	n/a	n/a
14	ATF3	chr16:75551025-75551513	K562	blood:	n/a	chr16:75551099-75551107
15	BACH1	chr16:75528737-75528745	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr16:75529192-75529506	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr16:75550536-75551659	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr16:75549927-75550130	GM12878	blood:	n/a	n/a
19	BATF	chr16:75549905-75550229	GM12878	blood:	n/a	n/a
20	BCL3	chr16:75551134-75551652	A549	lung:	n/a	chr16:75551309-75551322
21	BCLAF1	chr16:75551137-75551633	GM12878	blood:	n/a	chr16:75551309-75551322
22	BHLHE40	chr16:75559972-75560220	K562	blood:	n/a	n/a
23	BHLHE40	chr16:75551026-75551554	HepG2	liver:	n/a	chr16:75551106-75551122 chr16:75551188-75551204 chr16:75551304-75551320
24	BHLHE40	chr16:75551111-75551605	GM12878	blood:	n/a	chr16:75551188-75551204 chr16:75551304-75551320
25	BHLHE40	chr16:75550976-75551669	K562	blood:	n/a	chr16:75551106-75551122 chr16:75551188-75551204 chr16:75551304-75551320
26	BHLHE40	chr16:75535302-75535565	HepG2	liver:	n/a	n/a
27	BHLHE40	chr16:75543277-75543975	K562	blood:	n/a	n/a
28	BHLHE40	chr16:75563977-75564136	K562	blood:	n/a	n/a
29	BHLHE40	chr16:75535379-75535401	K562	blood:	n/a	n/a
30	BRCA1	chr16:75550999-75551543	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr16:75551105-75551472	HepG2	liver:	n/a	n/a
32	BRCA1	chr16:75540448-75540781	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr16:75551050-75551564	Hela-S3	cervix:	n/a	n/a
34	CBX3	chr16:75540335-75541012	HCT-116	colon:	n/a	n/a
35	CBX3	chr16:75540292-75541038	HCT-116	colon:	n/a	n/a
36	CBX3	chr16:75551286-75551594	K562	blood:	n/a	n/a
37	CBX3	chr16:75550890-75551727	K562	blood:	n/a	n/a
38	CBX3	chr16:75543145-75543731	K562	blood:	n/a	n/a
39	CCNT2	chr16:75550657-75551545	K562	blood:	n/a	n/a
40	CCNT2	chr16:75543308-75543999	K562	blood:	n/a	n/a
41	CEBPB	chr16:75551058-75551684	ECC-1	luminal epithelium:	n/a	n/a
42	CEBPB	chr16:75537218-75537418	HepG2	liver:	n/a	chr16:75537332-75537343
43	CEBPB	chr16:75540413-75540869	K562	blood:	n/a	chr16:75540740-75540753
44	CEBPB	chr16:75580218-75580505	MCF-7	breast:	n/a	chr16:75580396-75580407
45	CEBPB	chr16:75537226-75537375	HepG2	liver:	n/a	chr16:75537332-75537343
46	CEBPB	chr16:75540420-75540943	A549	lung:	n/a	chr16:75540740-75540753
47	CEBPB	chr16:75540344-75540947	Hela-S3	cervix:	n/a	chr16:75540397-75540410 chr16:75540740-75540753
48	CEBPB	chr16:75540439-75540894	IMR90	lung:	n/a	chr16:75540740-75540753
49	CEBPB	chr16:75540460-75540936	HepG2	liver:	n/a	chr16:75540740-75540753
50	CEBPB	chr16:75551030-75551578	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2138 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:75563009-75563059	HPAEpiC	pulmonary alveolar:	n/a
2	chr16:75551481-75551531	HEEpiC	esophagus:	n/a
3	chr16:75566465-75566515	IMR90	lung:	fetal
4	chr16:75563009-75563059	HPAEpiC	pulmonary alveolar:	n/a
5	chr16:75551481-75551531	HEEpiC	esophagus:	n/a
6	chr16:75566465-75566515	IMR90	lung:	fetal
7	chr16:75551144-75551194	HIPEpiC	eye:	n/a
8	chr16:75529197-75529247	ProgFib	skin:	n/a
9	chr16:75532464-75532514	HEK293	kidney:	embryo
10	chr16:75551144-75551194	GM19239	blood:	n/a
11	chr16:75528813-75528863	SAEC	small airway:	n/a
12	chr16:75551627-75551677	AG04449	skin:	fetal
13	chr16:75529346-75529396	Jurkat	blood:	n/a
14	chr16:75550676-75550726	T-47D	breast:	n/a
15	chr16:75569164-75569214	AG04450	lung:	fetal
16	chr16:75550118-75550168	HUVEC	blood vessel:	n/a
17	chr16:75529892-75529942	IMR90	lung:	fetal
18	chr16:75563009-75563059	HRCEpiC	kidney:	n/a
19	chr16:75548557-75548607	PFSK-1	brain:	n/a
20	chr16:75568999-75569049	PrEC	prostate:	n/a
21	chr16:75551627-75551677	NH-A	brain:	n/a
22	chr16:75563280-75563330	RPTEC	kidney:	n/a
23	chr16:75569527-75569577	AG10803	skin:	n/a
24	chr16:75532464-75532514	HIPEpiC	eye:	n/a
25	chr16:75550118-75550168	IMR90	lung:	fetal
26	chr16:75569459-75569509	H1-hESC	embryonic stem cell:	embryo
27	chr16:75563489-75563539	ECC-1	luminal epithelium:	n/a
28	chr16:75563114-75563164	Hepatocyte	liver:	n/a
29	chr16:75563901-75563951	IMR90	lung:	fetal
30	chr16:75550927-75550977	HRE	kidney:	n/a
31	chr16:75568999-75569049	H1-hESC	embryonic stem cell:	embryo
32	chr16:75563114-75563164	AG10803	skin:	n/a
33	chr16:75575906-75575956	AG04449	skin:	fetal
34	chr16:75529105-75529155	HRCEpiC	kidney:	n/a
35	chr16:75580831-75580881	AG09309	skin:	n/a
36	chr16:75529105-75529155	HEK293	kidney:	embryo
37	chr16:75528977-75529027	AG09309	skin:	n/a
38	chr16:75528813-75528863	NHBE	bronchial:	n/a
39	chr16:75563114-75563164	K562	blood:	n/a
40	chr16:75566465-75566515	AG04449	skin:	fetal
41	chr16:75569527-75569577	HRE	kidney:	n/a
42	chr16:75569527-75569577	Hepatocyte	liver:	n/a
43	chr16:75563009-75563059	GM12892	blood:	n/a
44	chr16:75548557-75548607	GM12892	blood:	n/a
45	chr16:75551627-75551677	MCF10A-Er-Src	breast:	n/a
46	chr16:75551627-75551677	K562	blood:	n/a
47	chr16:75566465-75566515	A549	lung:	n/a
48	chr16:75550676-75550726	HRE	kidney:	n/a
49	chr16:75528813-75528863	NH-A	brain:	n/a
50	chr16:75554060-75554110	AG10803	skin:	n/a

(count:99 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:154155243..154155810-chr16:75550915..75551583,2	Hela-S3	cervix:
2	chr16:75498379..75499125-chr16:75548041..75548619,2	K562	blood:
3	chr16:75549910..75552098-chr16:75575318..75577076,2	MCF-7	breast:
4	chr16:75296409..75300528-chr16:75549238..75552790,3	MCF-7	breast:
5	chr16:75570762..75572723-chr16:75573865..75576124,2	K562	blood:
6	chr16:75538570..75543222-chr16:75547718..75552328,5	MCF-7	breast:
7	chr16:75530551..75532986-chr16:75540003..75542944,2	K562	blood:
8	chr16:75510774..75513332-chr16:75550628..75552832,2	MCF-7	breast:
9	chr16:75505622..75506307-chr16:75550967..75551855,3	K562	blood:
10	chr16:75539405..75540962-chr16:75572342..75574110,2	K562	blood:
11	chr16:75563203..75565512-chr16:75568208..75570282,2	K562	blood:
12	chr16:75551190..75551731-chr16:75654745..75655449,2	K562	blood:
13	chr16:75572249..75573874-chr16:75680228..75682477,2	MCF-7	breast:
14	chr14:31495463..31496344-chr16:75540646..75541180,2	Hela-S3	cervix:
15	chr16:75550093..75552662-chr16:75555464..75560053,5	MCF-7	breast:
16	chr16:75538464..75540762-chr16:75575477..75578098,2	MCF-7	breast:
17	chr16:75568229..75570112-chr16:75587872..75589519,2	K562	blood:
18	chr16:75543492..75545467-chr16:75573221..75576000,2	K562	blood:
19	chr16:75536938..75540823-chr16:75549516..75552807,4	MCF-7	breast:
20	chr16:75564501..75567085-chr16:75571192..75573194,2	K562	blood:
21	chr16:75496257..75499246-chr16:75542255..75545311,3	MCF-7	breast:
22	chr16:75527053..75529439-chr16:75537012..75541443,4	K562	blood:
23	chr16:75523373..75525274-chr16:75540310..75541821,2	MCF-7	breast:
24	chr16:75537791..75540090-chr16:75550427..75552739,2	K562	blood:
25	chr16:75554986..75555868-chr16:75797911..75798528,2	MCF-7	breast:
26	chr16:75574449..75576989-chr16:75588011..75589806,2	K562	blood:
27	chr16:75550465..75552637-chr16:75558863..75560839,2	K562	blood:
28	chr16:75574262..75576234-chr16:75588612..75590836,2	MCF-7	breast:
29	chr16:75530551..75532986-chr16:75540003..75542944,2	K562	blood:
30	chr1:20834189..20834981-chr16:75550708..75551438,2	Hela-S3	cervix:
31	chr16:75529289..75531150-chr16:75543079..75544974,2	K562	blood:
32	chr16:75542394..75545244-chr16:75549898..75552701,3	K562	blood:
33	chr16:75533525..75534182-chr16:75573663..75574408,2	MCF-7	breast:
34	chr16:75576612..75578705-chr16:75660423..75663143,2	K562	blood:
35	chr16:75541323..75546353-chr16:75547690..75552176,10	MCF-7	breast:
36	chr16:75497752..75498618-chr16:75550411..75551452,5	Hela-S3	cervix:
37	chr11:65271441..65272209-chr16:75551020..75551636,2	Hela-S3	cervix:
38	chr16:75535727..75537338-chr16:75540511..75542867,2	MCF-7	breast:
39	chr16:75539387..75542121-chr16:75553084..75554957,2	MCF-7	breast:
40	chr16:75523790..75524565-chr16:75542425..75543396,2	K562	blood:
41	chr16:75497002..75498653-chr16:75549372..75551463,2	K562	blood:
42	chr16:75554663..75556998-chr16:75557661..75561177,3	MCF-7	breast:
43	chr16:75532625..75534527-chr16:75550172..75552396,2	MCF-7	breast:
44	chr16:75549961..75554189-chr16:75589462..75592660,4	K562	blood:
45	chr16:75505348..75506153-chr16:75551055..75551869,3	MCF-7	breast:
46	chr16:75529289..75531150-chr16:75543079..75544974,2	K562	blood:
47	chr16:75533525..75534182-chr16:75573663..75574408,2	MCF-7	breast:
48	chr16:75550675..75551536-chr2:122288289..122288930,2	Hela-S3	cervix:
49	chr16:75496672..75499382-chr16:75549463..75551344,4	MCF-7	breast:
50	chr16:75498381..75499126-chr16:75550587..75551534,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABARAPL2-1	chr16:75529158-75529305	ENSG00000203472.3
2	lnc-CHST6-2	chr16:75528838-75528926	NONHSAT143740

No data

Variant related genes	Relation type
CHST6	TF binding region
CHST5	TF binding region
ENSG00000262583	TF binding region
TMEM231	TF binding region
ENSG00000260092	TF binding region
CHST6	CpG island
CHST5	CpG island
ENSG00000262583	CpG island
TMEM231	CpG island
ENSG00000260092	CpG island
ENSG00000153774	chromatin interactions
ENSG00000196792	chromatin interactions
ENSG00000166822	chromatin interactions
ENSG00000100426	chromatin interactions
ENSG00000166848	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000090432	chromatin interactions
ENSG00000135702	chromatin interactions
ENSG00000074054	chromatin interactions
ENSG00000050820	chromatin interactions
ENSG00000264229	chromatin interactions
ENSG00000034713	chromatin interactions
ENSG00000183196	chromatin interactions
ENSG00000261717	chromatin interactions
ENSG00000100478	chromatin interactions
ENSG00000065427	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000262583	chromatin interactions
ENSG00000205084	chromatin interactions
ENSG00000075624	chromatin interactions

Extended variants
information (count: 2501 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2501 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2550904	chr16:75528511-75528512	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs56995694	chr16:75528558-75528559	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs367695073	chr16:75528579-75528580	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527699176	chr16:75528595-75528596	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547844139	chr16:75528626-75528627	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564547528	chr16:75528647-75528648	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573157944	chr16:75528687-75528688	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111556798	chr16:75528729-75528730	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533509923	chr16:75528758-75528759	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2550905	chr16:75528780-75528781	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568966734	chr16:75528824-75528825	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538095694	chr16:75528946-75528947	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs117269245	chr16:75528959-75528960	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567684809	chr16:75528974-75528975	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs113090545	chr16:75529030-75529031	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533530908	chr16:75529102-75529103	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs553380599	chr16:75529107-75529108	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs368362559	chr16:75529127-75529128	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201521334	chr16:75529171-75529172	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs576527268	chr16:75529188-75529189	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs556465386	chr16:75529254-75529255	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs370641829	chr16:75529259-75529260	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs374765455	chr16:75529260-75529261	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs576566368	chr16:75529279-75529280	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs367578693	chr16:75529334-75529335	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs562351817	chr16:75529347-75529348	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs572801465	chr16:75529362-75529363	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541430718	chr16:75529374-75529375	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs149950915	chr16:75529375-75529376	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs375783450	chr16:75529386-75529387	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs533423827	chr16:75529392-75529393	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs2550323	chr16:75529414-75529415	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529776095	chr16:75529432-75529433	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs558225664	chr16:75529440-75529441	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs372340745	chr16:75529456-75529457	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs372977313	chr16:75529480-75529481	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs531422249	chr16:75529486-75529487	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs112762076	chr16:75529489-75529490	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs548400237	chr16:75529498-75529499	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs567992685	chr16:75529528-75529529	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs2550322	chr16:75529538-75529539	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs3809612	chr16:75529556-75529557	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs78216861	chr16:75529577-75529578	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs28401550	chr16:75529599-75529600	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs544175056	chr16:75529610-75529611	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs556009035	chr16:75529646-75529647	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs569765289	chr16:75529654-75529655	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs535649997	chr16:75529663-75529664	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs199662773	chr16:75529691-75529692	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs369665891	chr16:75529699-75529700	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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 lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:1307 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75526200-75529000	Weak transcription	A549	lung
2	chr16:75526800-75531600	Weak transcription	Hela-S3	cervix
3	chr16:75528000-75528600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
4	chr16:75528000-75528600	Flanking Active TSS	Brain Cingulate Gyrus	brain
5	chr16:75528000-75528800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr16:75528000-75529200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:75528200-75528600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:75528200-75528600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:75528200-75528600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
10	chr16:75528200-75528600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr16:75528200-75528600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr16:75528200-75528600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr16:75528200-75528600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr16:75528200-75528600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:75528200-75528600	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr16:75528200-75528600	Enhancers	Fetal Heart	heart
17	chr16:75528200-75528600	Enhancers	Left Ventricle	heart
18	chr16:75528200-75528600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
19	chr16:75528200-75528600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
20	chr16:75528200-75528800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
21	chr16:75528200-75528800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
22	chr16:75528200-75528800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
23	chr16:75528200-75529000	Active TSS	Psoas Muscle	Psoas
24	chr16:75528200-75529200	Enhancers	Lung	lung
25	chr16:75528200-75529200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr16:75528200-75529200	Flanking Bivalent TSS/Enh	HepG2	liver
27	chr16:75528200-75529400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr16:75528200-75529400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:75528200-75529400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:75528200-75529400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:75528200-75529400	Active TSS	Brain Angular Gyrus	brain
32	chr16:75528200-75529400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr16:75528200-75529600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr16:75528200-75529600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr16:75528400-75528600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:75528400-75528600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr16:75528400-75528600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:75528400-75528600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr16:75528400-75528600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:75528400-75528600	Bivalent Enhancer	Adipose Nuclei	Adipose
41	chr16:75528400-75528600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
42	chr16:75528400-75528600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
43	chr16:75528400-75528600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr16:75528400-75528600	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr16:75528400-75528600	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr16:75528400-75528600	Bivalent Enhancer	Fetal Intestine Small	intestine
47	chr16:75528400-75528600	Bivalent Enhancer	Placenta	Placenta
48	chr16:75528400-75528600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
49	chr16:75528400-75528600	Active TSS	Right Atrium	heart
50	chr16:75528400-75528600	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach

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