Variant report

Variant	esv3406527
Chromosome Location	chr13:96328176-96330724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:590)
CpG islands
(count:794)
Chromatin interactive
region (count:13)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:96328413-96329579	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:96330245-96330651	K562	blood:	n/a	n/a
3	ATF2	chr13:96328895-96329623	GM12878	blood:	n/a	n/a
4	ATF2	chr13:96328600-96329143	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr13:96328366-96329095	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr13:96330156-96330196	K562	blood:	n/a	n/a
7	BCLAF1	chr13:96328727-96329765	GM12878	blood:	n/a	chr13:96329241-96329254 chr13:96329237-96329250 chr13:96329321-96329334 chr13:96329326-96329335 chr13:96329424-96329437 chr13:96329239-96329248 chr13:96329712-96329725 chr13:96329186-96329199
8	BCLAF1	chr13:96328254-96328688	GM12878	blood:	n/a	n/a
9	BHLHE40	chr13:96329046-96329343	HepG2	liver:	n/a	chr13:96329181-96329197
10	BHLHE40	chr13:96328547-96329643	HepG2	liver:	n/a	chr13:96329427-96329443 chr13:96329181-96329197 chr13:96329435-96329451
11	BHLHE40	chr13:96328254-96329960	GM12878	blood:	n/a	chr13:96329181-96329197 chr13:96329427-96329443 chr13:96329435-96329451
12	BHLHE40	chr13:96330095-96330518	K562	blood:	n/a	n/a
13	BHLHE40	chr13:96328292-96329728	K562	blood:	n/a	chr13:96329181-96329197 chr13:96329427-96329443 chr13:96329435-96329451
14	BHLHE40	chr13:96329014-96329371	A549	lung:	n/a	chr13:96329181-96329197
15	BRCA1	chr13:96329416-96329500	HepG2	liver:	n/a	n/a
16	BRCA1	chr13:96327371-96329644	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr13:96328973-96329183	GM12878	blood:	n/a	n/a
18	CBX3	chr13:96328899-96329579	K562	blood:	n/a	n/a
19	CCNT2	chr13:96328855-96330324	K562	blood:	n/a	n/a
20	CEBPB	chr13:96328336-96328668	MCF-7	breast:	n/a	n/a
21	CEBPB	chr13:96328276-96328717	K562	blood:	n/a	n/a
22	CEBPB	chr13:96328335-96329180	GM12878	blood:	n/a	n/a
23	CEBPB	chr13:96328303-96329049	HepG2	liver:	n/a	n/a
24	CEBPB	chr13:96328316-96328920	A549	lung:	n/a	n/a
25	CEBPB	chr13:96328262-96328825	IMR90	lung:	n/a	n/a
26	CEBPB	chr13:96328008-96329538	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr13:96328283-96329213	K562	blood:	n/a	n/a
28	CEBPB	chr13:96328345-96328812	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPD	chr13:96328961-96329528	HepG2	liver:	n/a	n/a
30	CHD1	chr13:96329435-96329664	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr13:96330288-96330572	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr13:96329293-96330667	IMR90	lung:	n/a	n/a
33	CHD1	chr13:96328199-96329815	GM12878	blood:	n/a	chr13:96329234-96329244
34	CHD2	chr13:96328467-96329619	HepG2	liver:	n/a	chr13:96329234-96329244
35	CHD2	chr13:96328380-96330032	Hela-S3	cervix:	n/a	chr13:96329234-96329244
36	CHD2	chr13:96328737-96329675	K562	blood:	n/a	chr13:96329234-96329244
37	CHD2	chr13:96328430-96329733	GM12878	blood:	n/a	chr13:96329234-96329244
38	CHD2	chr13:96328813-96329557	H1-hESC	embryonic stem cell:	n/a	chr13:96329234-96329244
39	CREB1	chr13:96328929-96329568	ECC-1	luminal epithelium:	n/a	n/a
40	CREB1	chr13:96329568-96329830	A549	lung:	n/a	n/a
41	CREB1	chr13:96328887-96329753	GM12878	blood:	n/a	n/a
42	CREB1	chr13:96328925-96329632	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr13:96328872-96329514	A549	lung:	n/a	n/a
44	CREB1	chr13:96328829-96329633	K562	blood:	n/a	n/a
45	CREB1	chr13:96328663-96329770	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr13:96328202-96329895	HepG2	liver:	n/a	n/a
47	CREB1	chr13:96328680-96329682	K562	blood:	n/a	n/a
48	CREB1	chr13:96328757-96329703	HepG2	liver:	n/a	n/a
49	CTBP2	chr13:96328738-96329821	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr13:96329146-96329150	K562	blood:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:96329587-96329637	GM12891	blood:	n/a
2	chr13:96329587-96329637	GM12891	blood:	n/a
3	chr13:96329433-96329483	GM12878	blood:	n/a
4	chr13:96328951-96329001	GM19239	blood:	n/a
5	chr13:96329355-96329405	NT2-D1	testis:	n/a
6	chr13:96329610-96329660	RPTEC	kidney:	n/a
7	chr13:96329351-96329401	IMR90	lung:	fetal
8	chr13:96328951-96329001	MCF-7	breast:	n/a
9	chr13:96328925-96328975	IMR90	lung:	fetal
10	chr13:96328888-96328938	AG04450	lung:	fetal
11	chr13:96329433-96329483	BJ	skin:	n/a
12	chr13:96328811-96328861	AG04449	skin:	fetal
13	chr13:96328811-96328861	NH-A	brain:	n/a
14	chr13:96329351-96329401	HL-60	blood:	n/a
15	chr13:96330052-96330102	Caco-2	colon:	n/a
16	chr13:96328925-96328975	PrEC	prostate:	n/a
17	chr13:96329351-96329401	HMEC	breast:	n/a
18	chr13:96330052-96330102	AoSMC	blood vessel:	n/a
19	chr13:96329587-96329637	CMK	blood:	n/a
20	chr13:96329351-96329401	GM12892	blood:	n/a
21	chr13:96329433-96329483	AG04449	skin:	fetal
22	chr13:96329925-96329975	HPAEpiC	pulmonary alveolar:	n/a
23	chr13:96328951-96329001	HNPCEpiC	eye:	n/a
24	chr13:96329433-96329483	SK-N-SH	brain:	n/a
25	chr13:96329433-96329483	HIPEpiC	eye:	n/a
26	chr13:96329351-96329401	ovcar-3	ovarian:	n/a
27	chr13:96329433-96329483	AG10803	skin:	n/a
28	chr13:96328888-96328938	HRPEpiC	eye:	n/a
29	chr13:96329362-96329412	ovcar-3	ovarian:	n/a
30	chr13:96328888-96328938	CMK	blood:	n/a
31	chr13:96330052-96330102	MCF10A-Er-Src	breast:	n/a
32	chr13:96328811-96328861	RPTEC	kidney:	n/a
33	chr13:96329362-96329412	Hepatocyte	liver:	n/a
34	chr13:96328811-96328861	SK-N-SH	brain:	n/a
35	chr13:96329610-96329660	NHBE	bronchial:	n/a
36	chr13:96329433-96329483	GM06990	blood:	n/a
37	chr13:96328811-96328861	ovcar-3	ovarian:	n/a
38	chr13:96329610-96329660	SK-N-MC	brain:	n/a
39	chr13:96329629-96329679	HAEpiC	amniotic membrane:	n/a
40	chr13:96329351-96329401	HCT-116	colon:	n/a
41	chr13:96328951-96329001	HCT-116	colon:	n/a
42	chr13:96329629-96329679	SKMC	muscle:	n/a
43	chr13:96328951-96329001	BJ	skin:	n/a
44	chr13:96329587-96329637	Caco-2	colon:	n/a
45	chr13:96328951-96329001	AG10803	skin:	n/a
46	chr13:96329925-96329975	Hela-S3	cervix:	n/a
47	chr13:96329362-96329412	HCT-116	colon:	n/a
48	chr13:96328811-96328861	T-47D	breast:	n/a
49	chr13:96329355-96329405	HEK293	kidney:	embryo
50	chr13:96329362-96329412	Hela-S3	cervix:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:96328782..96329500-chr7:138793896..138794495,2	Hela-S3	cervix:
2	chr13:96328671..96329561-chr2:64680996..64681548,2	Hela-S3	cervix:
3	chr13:96327826..96331109-chr13:96365382..96368282,3	MCF-7	breast:
4	chr13:96329134..96329884-chr14:91526708..91527516,2	NB4	blood:
5	chr13:96328593..96329106-chr6:36561666..36562621,2	Hela-S3	cervix:
6	chr13:96327692..96330287-chr13:96346205..96350903,4	K562	blood:
7	chr13:96328115..96328997-chr3:49058919..49059437,2	Hela-S3	cervix:
8	chr11:65190165..65191035-chr13:96328786..96329458,2	Hela-S3	cervix:
9	chr13:96329213..96330784-chr13:96346091..96348298,2	MCF-7	breast:
10	chr13:96328903..96329487-chr15:42565285..42566134,2	Hela-S3	cervix:
11	chr13:96329295..96329836-chr16:31470265..31470990,2	Hela-S3	cervix:
12	chr13:96324907..96328412-chr13:96405169..96408703,4	K562	blood:
13	chr13:96330224..96330806-chr2:182757051..182757713,2	Hela-S3	cervix:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DZIP1-1	chr13:96328106-96329179	XLOC_010698
2	lnc-DZIP1-1	chr13:96325124-96329183	NONHSAT034769
3	lnc-DZIP1-1	chr13:96328750-96329048	ENSG00000247400.3

No data

Variant related genes	Relation type
DNAJC3-AS1	TF binding region
DNAJC3	TF binding region
DNAJC3-AS1	CpG island
DNAJC3	CpG island
ENSG00000140691	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000251901	chromatin interactions
ENSG00000138434	chromatin interactions
ENSG00000232373	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000227714	chromatin interactions
ENSG00000103978	chromatin interactions
ENSG00000119862	chromatin interactions
ENSG00000105939	chromatin interactions
ENSG00000112081	chromatin interactions
ENSG00000214013	chromatin interactions
ENSG00000100784	chromatin interactions
ENSG00000133943	chromatin interactions
NT5E	miRNA target sites

Extended variants
information (count: 95 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17881893	chr13:96328201-96328202	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550724162	chr13:96328253-96328254	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
3	rs561318830	chr13:96328256-96328257	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
4	rs76093067	chr13:96328286-96328287	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
5	rs552452948	chr13:96328287-96328288	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
6	rs569038586	chr13:96328308-96328309	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs538059515	chr13:96328367-96328368	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
8	rs557469180	chr13:96328416-96328417	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
9	rs567792402	chr13:96328508-96328509	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
10	rs141326362	chr13:96328515-96328516	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
11	rs186421900	chr13:96328542-96328543	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
12	rs190432455	chr13:96328563-96328564	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
13	rs528087994	chr13:96328577-96328578	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
14	rs547300212	chr13:96328611-96328612	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
15	rs376452175	chr13:96328665-96328666	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
16	rs17878907	chr13:96328686-96328687	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
17	rs545338201	chr13:96328699-96328700	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs17878672	chr13:96328815-96328816	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575408828	chr13:96328825-96328826	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
20	rs7316996	chr13:96328838-96328839	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs560634447	chr13:96328854-96328855	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
22	rs183552806	chr13:96328882-96328883	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
23	rs529791724	chr13:96328898-96328899	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
24	rs540222327	chr13:96328908-96328909	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
25	rs376490760	chr13:96328926-96328927	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
26	rs559848685	chr13:96328951-96328952	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
27	rs532148617	chr13:96329026-96329027	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
28	rs186403135	chr13:96329044-96329045	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
29	rs17887072	chr13:96329054-96329055	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
30	rs3848074	chr13:96329075-96329076	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs548442529	chr13:96329083-96329084	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
32	rs567743869	chr13:96329119-96329120	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
33	rs543590824	chr13:96329125-96329126	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
34	rs530176046	chr13:96329128-96329129	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
35	rs7317584	chr13:96329130-96329131	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
36	rs553443524	chr13:96329135-96329136	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
37	rs566720527	chr13:96329147-96329148	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
38	rs539046593	chr13:96329177-96329178	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
39	rs558803113	chr13:96329187-96329188	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs34211586	chr13:96329189-96329190	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544394867	chr13:96329204-96329205	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs535088841	chr13:96329208-96329209	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs111419724	chr13:96329228-96329229	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs574982582	chr13:96329273-96329274	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs539913627	chr13:96329281-96329282	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs560212437	chr13:96329303-96329304	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs9669929	chr13:96329314-96329315	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545846133	chr13:96329356-96329357	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs562762546	chr13:96329398-96329399	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs375245800	chr13:96329402-96329403	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96323000-96328400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:96323200-96328200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:96324000-96328200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:96324400-96328200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:96324400-96328200	Weak transcription	Aorta	Aorta
6	chr13:96324400-96328400	Weak transcription	Esophagus	oesophagus
7	chr13:96324400-96328400	Weak transcription	Lung	lung
8	chr13:96324600-96328200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr13:96325600-96332400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:96326800-96328200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr13:96326800-96328200	Enhancers	Brain Angular Gyrus	brain
12	chr13:96326800-96328400	Weak transcription	Gastric	stomach
13	chr13:96327000-96328200	Weak transcription	Left Ventricle	heart
14	chr13:96327000-96328200	Weak transcription	Pancreas	Pancrea
15	chr13:96327000-96330600	Active TSS	Duodenum Mucosa	Duodenum
16	chr13:96327000-96330800	Active TSS	Fetal Intestine Large	intestine
17	chr13:96327000-96331000	Active TSS	K562	blood
18	chr13:96327000-96331800	Active TSS	GM12878-XiMat	blood
19	chr13:96327200-96328200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr13:96327200-96331000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr13:96327400-96328200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:96327400-96328200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr13:96327400-96328200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr13:96327400-96331000	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr13:96327600-96328200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr13:96327600-96328200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr13:96327600-96328200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr13:96327600-96328200	Active TSS	Fetal Brain Male	brain
29	chr13:96327600-96328200	Enhancers	Fetal Heart	heart
30	chr13:96327600-96328200	Active TSS	NH-A	brain
31	chr13:96327600-96328400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr13:96327600-96328600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:96327600-96328600	Flanking Active TSS	Dnd41	blood
34	chr13:96327600-96329000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr13:96327600-96329000	Active TSS	Right Atrium	heart
36	chr13:96327600-96329400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:96327600-96330000	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr13:96327600-96330400	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr13:96327600-96330600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:96327600-96330800	Active TSS	Fetal Intestine Small	intestine
41	chr13:96327600-96331000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:96327600-96331000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:96327600-96331000	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr13:96327600-96331000	Active TSS	HMEC	breast
45	chr13:96327600-96331200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr13:96327600-96331400	Active TSS	Right Ventricle	heart
47	chr13:96327800-96328200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr13:96327800-96328200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr13:96327800-96328200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr13:96327800-96328400	Active TSS	HepG2	liver

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