Variant report

Variant	rs568827809
Chromosome Location	chr19:56711705-56711706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr19:56711666-56711834	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56711667-56711717	GM19239	blood:	n/a
2	chr19:56711667-56711717	GM06990	blood:	n/a
3	chr19:56711667-56711717	AG09309	skin:	n/a
4	chr19:56711667-56711717	PFSK-1	brain:	n/a
5	chr19:56711667-56711717	AoSMC	blood vessel:	n/a
6	chr19:56711667-56711717	HCF	heart:	n/a
7	chr19:56711667-56711717	MCF-7	breast:	n/a
8	chr19:56711667-56711717	AG04450	lung:	fetal
9	chr19:56711667-56711717	HEEpiC	esophagus:	n/a
10	chr19:56711667-56711717	HRE	kidney:	n/a
11	chr19:56711667-56711717	GM12878	blood:	n/a
12	chr19:56711667-56711717	HEK293	kidney:	embryo
13	chr19:56711667-56711717	HepG2	liver:	n/a
14	chr19:56711667-56711717	NHDF-neo	bronchial:	n/a
15	chr19:56711667-56711717	SKMC	muscle:	n/a
16	chr19:56711667-56711717	HCM	heart:	n/a
17	chr19:56711667-56711717	BE2_C	brain:	n/a
18	chr19:56711667-56711717	K562	blood:	n/a
19	chr19:56711667-56711717	AG04449	skin:	fetal
20	chr19:56711667-56711717	HRCEpiC	kidney:	n/a
21	chr19:56711667-56711717	HL-60	blood:	n/a
22	chr19:56711667-56711717	Jurkat	blood:	n/a
23	chr19:56711667-56711717	ProgFib	skin:	n/a
24	chr19:56711667-56711717	HCT-116	colon:	n/a
25	chr19:56711667-56711717	ECC-1	luminal epithelium:	n/a
26	chr19:56711667-56711717	HAEpiC	amniotic membrane:	n/a
27	chr19:56711667-56711717	HIPEpiC	eye:	n/a
28	chr19:56711667-56711717	CMK	blood:	n/a
29	chr19:56711667-56711717	IMR90	lung:	fetal
30	chr19:56711667-56711717	GM12891	blood:	n/a
31	chr19:56711667-56711717	SAEC	small airway:	n/a
32	chr19:56711667-56711717	T-47D	breast:	n/a
33	chr19:56711667-56711717	MCF10A-Er-Src	breast:	n/a
34	chr19:56711667-56711717	Caco-2	colon:	n/a
35	chr19:56711667-56711717	HMEC	breast:	n/a
36	chr19:56711667-56711717	ovcar-3	ovarian:	n/a
37	chr19:56711667-56711717	HRPEpiC	eye:	n/a
38	chr19:56711667-56711717	SK-N-MC	brain:	n/a
39	chr19:56711667-56711717	SK-N-SH	brain:	n/a
40	chr19:56711667-56711717	RPTEC	kidney:	n/a
41	chr19:56711667-56711717	H1-hESC	embryonic stem cell:	embryo
42	chr19:56711667-56711717	Hela-S3	cervix:	n/a
43	chr19:56711667-56711717	SK-N-SH_RA	brain:	n/a
44	chr19:56711667-56711717	HPAEpiC	pulmonary alveolar:	n/a
45	chr19:56711667-56711717	BJ	skin:	n/a
46	chr19:56711667-56711717	HUVEC	blood vessel:	n/a
47	chr19:56711667-56711717	PrEC	prostate:	n/a
48	chr19:56711667-56711717	NT2-D1	testis:	n/a
49	chr19:56711667-56711717	GM12892	blood:	n/a
50	chr19:56711667-56711717	HCPEpiC	choroid plexus:	n/a

No data

Variant related genes	Relation type
ZSCAN5C	TF binding region
ZSCAN5B	TF binding region
ZSCAN5B	CpG island
ZSCAN5C	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
4	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
6	nsv1058259	chr19:56696282-56722747	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1059084	chr19:56696282-56724038	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv828646	chr19:56701465-56736526	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv828647	chr19:56701488-56758401	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	esv3345953	chr19:56702268-56734127	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1058152	chr19:56703368-56805035	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv544093	chr19:56703368-56805035	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv1065992	chr19:56703836-56722747	Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv2760534	chr19:56705374-56722759	Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1065286	chr19:56709253-56741015	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv1058119	chr19:56709253-56744629	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56710800-56712400	Enhancers	Liver	Liver
2	chr19:56711000-56711800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr19:56711600-56711800	Enhancers	HUES6 Cell Line	embryonic stem cell

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