Variant report

Variant	esv3410856
Chromosome Location	chr16:12007876-12010424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:12009658-12010951	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:12009977-12010322	K562	blood:	n/a	n/a
3	ARID3A	chr16:12008585-12008859	K562	blood:	n/a	n/a
4	ATF1	chr16:12009714-12010168	K562	blood:	n/a	n/a
5	ATF2	chr16:12009771-12010305	GM12878	blood:	n/a	n/a
6	ATF2	chr16:12009671-12010205	GM12878	blood:	n/a	n/a
7	ATF3	chr16:12009662-12010144	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr16:12009886-12010165	GM12878	blood:	n/a	n/a
9	ATF3	chr16:12009828-12010230	HepG2	liver:	n/a	n/a
10	ATF3	chr16:12009819-12010191	K562	blood:	n/a	n/a
11	ATF3	chr16:12009602-12010039	A549	lung:	n/a	n/a
12	ATF3	chr16:12009863-12010791	A549	lung:	n/a	n/a
13	BACH1	chr16:12010242-12010754	H1-hESC	embryonic stem cell:	n/a	chr16:12010574-12010588
14	BACH1	chr16:12009695-12009830	K562	blood:	n/a	n/a
15	BACH1	chr16:12009120-12009416	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr16:12010279-12010878	K562	blood:	n/a	chr16:12010574-12010588
17	BACH1	chr16:12009639-12010027	H1-hESC	embryonic stem cell:	n/a	n/a
18	BCL3	chr16:12009698-12010335	A549	lung:	n/a	chr16:12009769-12009782 chr16:12009719-12009732 chr16:12010050-12010059 chr16:12009770-12009779 chr16:12009773-12009782 chr16:12009772-12009785
19	BCL3	chr16:12009498-12010377	A549	lung:	n/a	chr16:12009769-12009782 chr16:12009667-12009680 chr16:12009719-12009732 chr16:12010050-12010059 chr16:12009770-12009779 chr16:12009773-12009782 chr16:12009772-12009785
20	BCLAF1	chr16:12008629-12009154	GM12878	blood:	n/a	chr16:12008962-12008975 chr16:12008898-12008907 chr16:12008972-12008981
21	BCLAF1	chr16:12009482-12010321	K562	blood:	n/a	chr16:12009769-12009782 chr16:12009667-12009680 chr16:12009719-12009732 chr16:12010050-12010059 chr16:12009770-12009779 chr16:12009773-12009782 chr16:12009772-12009785
22	BCLAF1	chr16:12009704-12010225	K562	blood:	n/a	chr16:12009769-12009782 chr16:12009719-12009732 chr16:12010050-12010059 chr16:12009770-12009779 chr16:12009773-12009782 chr16:12009772-12009785
23	BCLAF1	chr16:12009547-12010311	GM12878	blood:	n/a	chr16:12009769-12009782 chr16:12009667-12009680 chr16:12009719-12009732 chr16:12010050-12010059 chr16:12009770-12009779 chr16:12009773-12009782 chr16:12009772-12009785
24	BCLAF1	chr16:12009551-12010336	GM12878	blood:	n/a	chr16:12009769-12009782 chr16:12009667-12009680 chr16:12009719-12009732 chr16:12010050-12010059 chr16:12009770-12009779 chr16:12009773-12009782 chr16:12009772-12009785
25	BHLHE40	chr16:12009628-12010657	K562	blood:	n/a	chr16:12009769-12009785 chr16:12009772-12009788 chr16:12009719-12009735
26	BHLHE40	chr16:12009616-12010643	HepG2	liver:	n/a	chr16:12009769-12009785 chr16:12009772-12009788 chr16:12009719-12009735
27	BHLHE40	chr16:12008235-12009393	K562	blood:	n/a	n/a
28	BHLHE40	chr16:12009619-12010324	GM12878	blood:	n/a	chr16:12009769-12009785 chr16:12009772-12009788 chr16:12009719-12009735
29	BHLHE40	chr16:12008926-12009352	HepG2	liver:	n/a	n/a
30	BHLHE40	chr16:12007501-12009376	GM12878	blood:	n/a	n/a
31	BRCA1	chr16:12009695-12010539	HepG2	liver:	n/a	n/a
32	BRCA1	chr16:12009741-12010897	Hela-S3	cervix:	n/a	n/a
33	CBX3	chr16:12009614-12010892	K562	blood:	n/a	n/a
34	CCNT2	chr16:12008509-12010285	K562	blood:	n/a	chr16:12009857-12009866
35	CEBPB	chr16:12009861-12010072	K562	blood:	n/a	n/a
36	CEBPB	chr16:12009911-12010228	HepG2	liver:	n/a	n/a
37	CEBPB	chr16:12009656-12010954	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr16:12009979-12010282	HepG2	liver:	n/a	n/a
39	CEBPB	chr16:12009742-12010110	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr16:12009680-12010283	HepG2	liver:	n/a	n/a
41	CEBPD	chr16:12009444-12010289	HepG2	liver:	n/a	n/a
42	CEBPD	chr16:12009547-12010277	HepG2	liver:	n/a	n/a
43	CHD1	chr16:12009810-12009842	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD1	chr16:12007678-12009253	GM12878	blood:	n/a	chr16:12008970-12008980
45	CHD1	chr16:12009532-12010155	GM12878	blood:	n/a	chr16:12009953-12009963
46	CHD2	chr16:12009611-12010221	GM12878	blood:	n/a	chr16:12009953-12009963
47	CHD2	chr16:12008514-12008914	K562	blood:	n/a	n/a
48	CHD2	chr16:12009617-12010834	HepG2	liver:	n/a	chr16:12009953-12009963
49	CHD2	chr16:12009739-12010201	H1-hESC	embryonic stem cell:	n/a	chr16:12009953-12009963
50	CHD2	chr16:12008617-12010822	Hela-S3	cervix:	n/a	chr16:12009953-12009963 chr16:12008970-12008980

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:12009842-12009892	CMK	blood:	n/a
2	chr16:12009989-12010039	AG09319	gingival:	n/a
3	chr16:12010179-12010229	NT2-D1	testis:	n/a
4	chr16:12010052-12010102	HNPCEpiC	eye:	n/a
5	chr16:12009983-12010033	SK-N-SH	brain:	n/a
6	chr16:12009989-12010039	A549	lung:	n/a
7	chr16:12009989-12010039	U87	brain:	n/a
8	chr16:12009839-12009889	RPTEC	kidney:	n/a
9	chr16:12010179-12010229	HNPCEpiC	eye:	n/a
10	chr16:12009842-12009892	GM19239	blood:	n/a
11	chr16:12009405-12009455	H1-hESC	embryonic stem cell:	embryo
12	chr16:12009983-12010033	HAEpiC	amniotic membrane:	n/a
13	chr16:12009378-12009428	T-47D	breast:	n/a
14	chr16:12009700-12009750	AG09319	gingival:	n/a
15	chr16:12009700-12009750	HL-60	blood:	n/a
16	chr16:12010179-12010229	SAEC	small airway:	n/a
17	chr16:12009842-12009892	SK-N-SH_RA	brain:	n/a
18	chr16:12010052-12010102	SKMC	muscle:	n/a
19	chr16:12010052-12010102	HRPEpiC	eye:	n/a
20	chr16:12009378-12009428	K562	blood:	n/a
21	chr16:12009378-12009428	MCF10A-Er-Src	breast:	n/a
22	chr16:12009983-12010033	Hepatocyte	liver:	n/a
23	chr16:12009983-12010033	GM19239	blood:	n/a
24	chr16:12010179-12010229	HL-60	blood:	n/a
25	chr16:12009405-12009455	PrEC	prostate:	n/a
26	chr16:12009700-12009750	HRPEpiC	eye:	n/a
27	chr16:12009989-12010039	LNCaP	prostate:	n/a
28	chr16:12009842-12009892	NB4	blood:	n/a
29	chr16:12009989-12010039	T-47D	breast:	n/a
30	chr16:12010179-12010229	Hela-S3	cervix:	n/a
31	chr16:12009839-12009889	T-47D	breast:	n/a
32	chr16:12009839-12009889	AG04450	lung:	fetal
33	chr16:12009839-12009889	GM12892	blood:	n/a
34	chr16:12009842-12009892	HepG2	liver:	n/a
35	chr16:12009700-12009750	RPTEC	kidney:	n/a
36	chr16:12009378-12009428	NH-A	brain:	n/a
37	chr16:12009989-12010039	HIPEpiC	eye:	n/a
38	chr16:12009405-12009455	AG04449	skin:	fetal
39	chr16:12009839-12009889	NHDF-neo	bronchial:	n/a
40	chr16:12009842-12009892	H1-hESC	embryonic stem cell:	embryo
41	chr16:12009989-12010039	Hepatocyte	liver:	n/a
42	chr16:12010179-12010229	HCT-116	colon:	n/a
43	chr16:12009983-12010033	Jurkat	blood:	n/a
44	chr16:12009405-12009455	HIPEpiC	eye:	n/a
45	chr16:12010052-12010102	U87	brain:	n/a
46	chr16:12009405-12009455	Hela-S3	cervix:	n/a
47	chr16:12009700-12009750	BE2_C	brain:	n/a
48	chr16:12009989-12010039	NHBE	bronchial:	n/a
49	chr16:12009700-12009750	HCM	heart:	n/a
50	chr16:12009983-12010033	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:12010326..12012796-chr16:12069017..12071833,3	MCF-7	breast:
2	chr16:11835219..11836957-chr16:12010044..12011553,2	MCF-7	breast:
3	chr16:12008162..12010269-chr16:12142729..12146819,3	K562	blood:
4	chr16:12007765..12009301-chr16:12009316..12010905,2	MCF-7	breast:
5	chr16:11944315..11946480-chr16:12008232..12011350,3	K562	blood:
6	chr16:11942158..11945019-chr16:12007276..12009748,2	K562	blood:
7	chr16:11886565..11889362-chr16:12006902..12008695,2	K562	blood:
8	chr16:12006809..12011472-chr16:12069677..12072698,7	MCF-7	breast:
9	chr16:11943912..11945965-chr16:12008319..12011491,4	MCF-7	breast:
10	chr16:11831944..11836692-chr16:12007199..12011492,4	K562	blood:
11	chr16:12008899..12009895-chr19:48825023..48825708,2	Hela-S3	cervix:
12	chr16:12009346..12010195-chr2:201676259..201676837,2	Hela-S3	cervix:
13	chr16:12009392..12009947-chr19:48866680..48867321,2	NB4	blood:
14	chr16:11835593..11837984-chr16:12009045..12011349,2	K562	blood:
15	chr16:11439089..11440838-chr16:12008767..12010529,2	K562	blood:
16	chr16:11988100..11996073-chr16:12007143..12011577,10	MCF-7	breast:
17	chr16:12008410..12010246-chr16:15742278..15744306,2	MCF-7	breast:
18	chr16:12006532..12011371-chr16:12068460..12073371,6	K562	blood:
19	chr10:124133719..124134527-chr16:12008397..12008926,2	Hela-S3	cervix:
20	chr16:12007765..12009301-chr16:12009316..12010905,2	MCF-7	breast:
21	chr16:11941713..11946689-chr16:12006948..12011249,6	MCF-7	breast:
22	chr16:12007951..12010484-chr17:59476175..59479111,2	MCF-7	breast:
23	chr16:12007711..12010113-chr16:12069770..12071913,2	MCF-7	breast:
24	chr16:10710065..10712953-chr16:12010240..12012086,2	MCF-7	breast:
25	chr16:12008413..12010461-chr16:12056035..12059014,2	MCF-7	breast:
26	chr16:11988764..11995180-chr16:12006980..12012068,9	MCF-7	breast:
27	chr16:11836330..11838361-chr16:12008535..12010129,2	MCF-7	breast:
28	chr16:11889469..11891900-chr16:12008639..12011975,4	MCF-7	breast:
29	chr10:101379675..101380180-chr16:12009652..12010648,2	Hela-S3	cervix:

Variant related genes	Relation type
GSPT1	TF binding region
ENSG00000266163	TF binding region
GSPT1	CpG island
ENSG00000266163	CpG island
ENSG00000161558	chromatin interactions
ENSG00000175643	chromatin interactions
ENSG00000048462	chromatin interactions
ENSG00000107679	chromatin interactions
ENSG00000263307	chromatin interactions
ENSG00000262420	chromatin interactions
ENSG00000048471	chromatin interactions
ENSG00000072864	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000260488	chromatin interactions
ENSG00000234719	chromatin interactions
ENSG00000155287	chromatin interactions
ENSG00000105479	chromatin interactions
ENSG00000082153	chromatin interactions
ENSG00000103342	chromatin interactions
ENSG00000266163	chromatin interactions
ENSG00000153066	chromatin interactions
ENSG00000171490	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000122299	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567112856	chr16:12007914-12007915	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs183680418	chr16:12007921-12007922	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs536825089	chr16:12007931-12007932	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs541183942	chr16:12007935-12007936	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs539338431	chr16:12007965-12007966	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs577860656	chr16:12007980-12007981	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs189499367	chr16:12008010-12008011	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs563863108	chr16:12008018-12008019	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs528862796	chr16:12008025-12008026	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs550363014	chr16:12008066-12008067	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs7196885	chr16:12008095-12008096	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559367640	chr16:12008110-12008111	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs33622	chr16:12008116-12008117	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551555115	chr16:12008137-12008138	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs141797753	chr16:12008146-12008147	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs369444386	chr16:12008159-12008160	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs537284547	chr16:12008177-12008178	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs550872130	chr16:12008231-12008232	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs527774232	chr16:12008249-12008250	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs182067980	chr16:12008252-12008253	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs147085233	chr16:12008254-12008255	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs555486497	chr16:12008291-12008292	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs76754900	chr16:12008307-12008308	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs534786719	chr16:12008351-12008352	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs569459833	chr16:12008394-12008395	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs577799173	chr16:12008404-12008405	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs543639837	chr16:12008428-12008429	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs557607037	chr16:12008442-12008443	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs74807886	chr16:12008445-12008446	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs538457261	chr16:12008461-12008462	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs187667291	chr16:12008466-12008467	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs142071793	chr16:12008485-12008486	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs111410743	chr16:12008508-12008509	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs33621	chr16:12008513-12008514	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs33620	chr16:12008546-12008547	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs558997702	chr16:12008583-12008584	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs540187358	chr16:12008631-12008632	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs565000323	chr16:12008680-12008681	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs530694512	chr16:12008701-12008702	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs550516857	chr16:12008743-12008744	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs553477610	chr16:12008747-12008748	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs116976807	chr16:12008749-12008750	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs545668432	chr16:12008781-12008782	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs529947167	chr16:12008835-12008836	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs562474601	chr16:12008841-12008842	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs143065056	chr16:12008872-12008873	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs372596824	chr16:12008883-12008884	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs33619	chr16:12008941-12008942	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs557810617	chr16:12008948-12008949	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs191495202	chr16:12008985-12008986	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:11987800-12008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:11999800-12008000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr16:12002000-12008200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:12006200-12008000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:12006200-12008600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:12006200-12008600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:12006200-12008600	Transcr. at gene 5' and 3'	K562	blood
8	chr16:12006400-12008000	Enhancers	Stomach Mucosa	stomach
9	chr16:12006600-12008600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:12006600-12010400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:12006800-12008000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr16:12006800-12008000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr16:12006800-12008000	Enhancers	Spleen	Spleen
14	chr16:12006800-12008200	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr16:12006800-12008400	Flanking Active TSS	Osteobl	bone
16	chr16:12006800-12008600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:12006800-12008600	Flanking Active TSS	HUVEC	blood vessel
18	chr16:12006800-12009000	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr16:12007000-12008000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr16:12007000-12008200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:12007000-12008400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr16:12007000-12008400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr16:12007000-12008600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:12007000-12008600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr16:12007000-12009000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr16:12007200-12008000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr16:12007200-12008000	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr16:12007200-12008000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr16:12007200-12008000	Flanking Active TSS	Psoas Muscle	Psoas
30	chr16:12007200-12008200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr16:12007200-12008200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr16:12007200-12008200	Flanking Active TSS	Hela-S3	cervix
33	chr16:12007200-12008200	Transcr. at gene 5' and 3'	HSMM	muscle
34	chr16:12007200-12008200	Flanking Active TSS	NH-A	brain
35	chr16:12007200-12008400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr16:12007200-12008400	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr16:12007200-12008400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr16:12007200-12008400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr16:12007200-12008400	Flanking Active TSS	NHDF-Ad	bronchial
40	chr16:12007200-12008600	Flanking Active TSS	Liver	Liver
41	chr16:12007200-12008600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr16:12007200-12008600	Transcr. at gene 5' and 3'	NHEK	skin
43	chr16:12007200-12008800	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr16:12007200-12009000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:12007200-12010400	Active TSS	Right Atrium	heart
46	chr16:12007200-12010600	Active TSS	A549	lung
47	chr16:12007400-12008000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr16:12007400-12008000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:12007400-12008000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr16:12007400-12008000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin

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