Variant report

Variant	esv3518112
Chromosome Location	chr16:12008201-12011049
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	chr16:12009977-12010322	K562	blood:	n/a	n/a
2	ARID3A	chr16:12009658-12010951	HepG2	liver:	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	chr16:12009819-12010191	K562	blood:	n/a	n/a
8	ATF3	chr16:12009602-12010039	A549	lung:	n/a	n/a
9	ATF3	chr16:12009886-12010165	GM12878	blood:	n/a	n/a
10	ATF3	chr16:12009662-12010144	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr16:12009828-12010230	HepG2	liver:	n/a	n/a
12	ATF3	chr16:12009863-12010791	A549	lung:	n/a	n/a
13	BACH1	chr16:12009639-12010027	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr16:12009695-12009830	K562	blood:	n/a	n/a
15	BACH1	chr16:12010242-12010754	H1-hESC	embryonic stem cell:	n/a	chr16:12010574-12010588
16	BACH1	chr16:12009120-12009416	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr16:12010279-12010878	K562	blood:	n/a	chr16:12010574-12010588
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	chr16:12009551-12010336	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
21	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
22	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
23	BCLAF1	chr16:12008629-12009154	GM12878	blood:	n/a	chr16:12008962-12008975 chr16:12008898-12008907 chr16:12008972-12008981
24	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
25	BHLHE40	chr16:12007501-12009376	GM12878	blood:	n/a	n/a
26	BHLHE40	chr16:12008235-12009393	K562	blood:	n/a	n/a
27	BHLHE40	chr16:12009616-12010643	HepG2	liver:	n/a	chr16:12009769-12009785 chr16:12009772-12009788 chr16:12009719-12009735
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	chr16:12009628-12010657	K562	blood:	n/a	chr16:12009769-12009785 chr16:12009772-12009788 chr16:12009719-12009735
31	BRCA1	chr16:12009741-12010897	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr16:12009695-12010539	HepG2	liver:	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	chr16:12010512-12010824	MCF-7	breast:	n/a	n/a
36	CEBPB	chr16:12009656-12010954	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr16:12009742-12010110	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr16:12009861-12010072	K562	blood:	n/a	n/a
39	CEBPB	chr16:12009979-12010282	HepG2	liver:	n/a	n/a
40	CEBPB	chr16:12009911-12010228	HepG2	liver:	n/a	n/a
41	CEBPB	chr16:12009680-12010283	HepG2	liver:	n/a	n/a
42	CEBPD	chr16:12009444-12010289	HepG2	liver:	n/a	n/a
43	CEBPD	chr16:12009547-12010277	HepG2	liver:	n/a	n/a
44	CHD1	chr16:12009810-12009842	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr16:12007678-12009253	GM12878	blood:	n/a	chr16:12008970-12008980
46	CHD1	chr16:12009532-12010155	GM12878	blood:	n/a	chr16:12009953-12009963
47	CHD2	chr16:12008514-12008914	K562	blood:	n/a	n/a
48	CHD2	chr16:12009273-12010364	K562	blood:	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	chr16:12009378-12009428	HCF	heart:	n/a
2	chr16:12009839-12009889	Hepatocyte	liver:	n/a
3	chr16:12009378-12009428	HCF	heart:	n/a
4	chr16:12009839-12009889	Hepatocyte	liver:	n/a
5	chr16:12010179-12010229	NT2-D1	testis:	n/a
6	chr16:12009405-12009455	AoSMC	blood vessel:	n/a
7	chr16:12009842-12009892	AG09319	gingival:	n/a
8	chr16:12009839-12009889	AG10803	skin:	n/a
9	chr16:12010052-12010102	U87	brain:	n/a
10	chr16:12009983-12010033	HAEpiC	amniotic membrane:	n/a
11	chr16:12009378-12009428	AG09309	skin:	n/a
12	chr16:12009842-12009892	HRCEpiC	kidney:	n/a
13	chr16:12009983-12010033	HCF	heart:	n/a
14	chr16:12009983-12010033	AG09309	skin:	n/a
15	chr16:12010179-12010229	MCF10A-Er-Src	breast:	n/a
16	chr16:12009405-12009455	HEK293	kidney:	embryo
17	chr16:12010698-12010748	HIPEpiC	eye:	n/a
18	chr16:12010052-12010102	NT2-D1	testis:	n/a
19	chr16:12009700-12009750	GM19239	blood:	n/a
20	chr16:12009983-12010033	NB4	blood:	n/a
21	chr16:12009378-12009428	HEK293	kidney:	embryo
22	chr16:12010698-12010748	GM19239	blood:	n/a
23	chr16:12010698-12010748	CMK	blood:	n/a
24	chr16:12009378-12009428	AG04450	lung:	fetal
25	chr16:12009989-12010039	BJ	skin:	n/a
26	chr16:12009700-12009750	SK-N-SH	brain:	n/a
27	chr16:12009405-12009455	AG09309	skin:	n/a
28	chr16:12010052-12010102	HIPEpiC	eye:	n/a
29	chr16:12010052-12010102	AG10803	skin:	n/a
30	chr16:12010052-12010102	HMEC	breast:	n/a
31	chr16:12009405-12009455	HEEpiC	esophagus:	n/a
32	chr16:12009405-12009455	U87	brain:	n/a
33	chr16:12009378-12009428	HMEC	breast:	n/a
34	chr16:12009989-12010039	GM12891	blood:	n/a
35	chr16:12010052-12010102	HEEpiC	esophagus:	n/a
36	chr16:12009989-12010039	HRPEpiC	eye:	n/a
37	chr16:12010179-12010229	AG09319	gingival:	n/a
38	chr16:12009700-12009750	AG09309	skin:	n/a
39	chr16:12009378-12009428	RPTEC	kidney:	n/a
40	chr16:12009378-12009428	CMK	blood:	n/a
41	chr16:12009842-12009892	MCF10A-Er-Src	breast:	n/a
42	chr16:12009842-12009892	BJ	skin:	n/a
43	chr16:12009405-12009455	HCM	heart:	n/a
44	chr16:12010179-12010229	AG04449	skin:	fetal
45	chr16:12009839-12009889	A549	lung:	n/a
46	chr16:12010052-12010102	HRE	kidney:	n/a
47	chr16:12009839-12009889	LNCaP	prostate:	n/a
48	chr16:12010698-12010748	ovcar-3	ovarian:	n/a
49	chr16:12009700-12009750	HUVEC	blood vessel:	n/a
50	chr16:12009839-12009889	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:11944315..11946480-chr16:12008232..12011350,3	K562	blood:
2	chr16:12007951..12010484-chr17:59476175..59479111,2	MCF-7	breast:
3	chr10:124133719..124134527-chr16:12008397..12008926,2	Hela-S3	cervix:
4	chr16:10710065..10712953-chr16:12010240..12012086,2	MCF-7	breast:
5	chr16:12010691..12013114-chr16:12155698..12158691,2	MCF-7	breast:
6	chr16:12008410..12010246-chr16:15742278..15744306,2	MCF-7	breast:
7	chr16:11835593..11837984-chr16:12009045..12011349,2	K562	blood:
8	chr16:11889469..11891900-chr16:12008639..12011975,4	MCF-7	breast:
9	chr16:11831944..11836692-chr16:12007199..12011492,4	K562	blood:
10	chr16:11943912..11945965-chr16:12008319..12011491,4	MCF-7	breast:
11	chr16:11941713..11946689-chr16:12006948..12011249,6	MCF-7	breast:
12	chr16:12010326..12012796-chr16:12069017..12071833,3	MCF-7	breast:
13	chr16:12009346..12010195-chr2:201676259..201676837,2	Hela-S3	cervix:
14	chr16:12006532..12011371-chr16:12068460..12073371,6	K562	blood:
15	chr16:12009392..12009947-chr19:48866680..48867321,2	NB4	blood:
16	chr16:12008413..12010461-chr16:12056035..12059014,2	MCF-7	breast:
17	chr16:12007765..12009301-chr16:12009316..12010905,2	MCF-7	breast:
18	chr16:11836330..11838361-chr16:12008535..12010129,2	MCF-7	breast:
19	chr16:11835219..11836957-chr16:12010044..12011553,2	MCF-7	breast:
20	chr16:11439089..11440838-chr16:12008767..12010529,2	K562	blood:
21	chr16:12007765..12009301-chr16:12009316..12010905,2	MCF-7	breast:
22	chr10:101379675..101380180-chr16:12009652..12010648,2	Hela-S3	cervix:
23	chr16:11988764..11995180-chr16:12006980..12012068,9	MCF-7	breast:
24	chr16:11942158..11945019-chr16:12007276..12009748,2	K562	blood:
25	chr16:12010494..12013016-chr16:12016316..12019639,3	MCF-7	breast:
26	chr16:12007711..12010113-chr16:12069770..12071913,2	MCF-7	breast:
27	chr16:12006809..12011472-chr16:12069677..12072698,7	MCF-7	breast:
28	chr16:11886565..11889362-chr16:12006902..12008695,2	K562	blood:
29	chr16:12008899..12009895-chr19:48825023..48825708,2	Hela-S3	cervix:
30	chr16:12008162..12010269-chr16:12142729..12146819,3	K562	blood:
31	chr16:11988100..11996073-chr16:12007143..12011577,10	MCF-7	breast:

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

Extended variants
information (count: 145 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	rs181659368	chr16:12008991-12008992	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs541679317	chr16:12009007-12009008	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs561385804	chr16:12009017-12009018	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs537216929	chr16:12009022-12009023	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs530145984	chr16:12009023-12009024	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
39	rs547119370	chr16:12009026-12009027	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
40	rs375798736	chr16:12009029-12009030	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs111344798	chr16:12009032-12009033	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs553670209	chr16:12009051-12009052	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs572860844	chr16:12009140-12009141	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs28653099	chr16:12009150-12009151	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs375067991	chr16:12009152-12009153	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs573874431	chr16:12009158-12009159	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs435696	chr16:12009268-12009269	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs185937624	chr16:12009277-12009278	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs424518	chr16:12009279-12009280	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs17855407	chr16:12009288-12009289	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 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:387 , 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	chr16:12006200-12008600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:12006200-12008600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr16:12006200-12008600	Transcr. at gene 5' and 3'	K562	blood
5	chr16:12006600-12008600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:12006600-12010400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:12006800-12008400	Flanking Active TSS	Osteobl	bone
8	chr16:12006800-12008600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:12006800-12008600	Flanking Active TSS	HUVEC	blood vessel
10	chr16:12006800-12009000	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr16:12007000-12008400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr16:12007000-12008400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr16:12007000-12008600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:12007000-12008600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr16:12007000-12009000	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr16:12007200-12008400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr16:12007200-12008400	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr16:12007200-12008400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr16:12007200-12008400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr16:12007200-12008400	Flanking Active TSS	NHDF-Ad	bronchial
21	chr16:12007200-12008600	Flanking Active TSS	Liver	Liver
22	chr16:12007200-12008600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr16:12007200-12008600	Transcr. at gene 5' and 3'	NHEK	skin
24	chr16:12007200-12008800	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr16:12007200-12009000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr16:12007200-12010400	Active TSS	Right Atrium	heart
27	chr16:12007200-12010600	Active TSS	A549	lung
28	chr16:12007400-12008400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:12007400-12008400	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr16:12007400-12008400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr16:12007400-12008400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr16:12007400-12008400	Flanking Active TSS	Fetal Kidney	kidney
33	chr16:12007400-12008400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr16:12007400-12008600	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr16:12007400-12008600	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr16:12007400-12008600	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr16:12007400-12008600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr16:12007400-12008600	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr16:12007400-12008800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr16:12007400-12008800	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr16:12007400-12009000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr16:12007400-12009200	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr16:12007400-12009800	Active TSS	GM12878-XiMat	blood
44	chr16:12007400-12010200	Active TSS	H9 Cell Line	embryonic stem cell
45	chr16:12007400-12010200	Active TSS	HSMMtube	muscle
46	chr16:12007400-12010600	Active TSS	Esophagus	oesophagus
47	chr16:12007400-12010800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr16:12007600-12008400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr16:12007600-12008400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr16:12007600-12008400	Flanking Active TSS	Fetal Brain Male	brain

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