Variant report

Variant	rs551526852
Chromosome Location	chr19:56859676-56859677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:56859660-56859810	HFF	foreskin:	n/a	n/a
2	HDAC2	chr19:56859638-56860007	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr19:56859673-56859933	A549	lung:	n/a	n/a
4	ZNF143	chr19:56859672-56860010	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOXA1	chr19:56859593-56860006	HepG2	liver:	n/a	n/a
6	CTCF	chr19:56859570-56859950	A549	lung:	n/a	n/a
7	RAD21	chr19:56859651-56860021	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr19:56859640-56860012	K562	blood:	n/a	n/a
9	RCOR1	chr19:56858520-56860055	K562	blood:	n/a	n/a
10	CBX3	chr19:56859647-56860104	K562	blood:	n/a	n/a
11	FOXA2	chr19:56859647-56860005	A549	lung:	n/a	n/a
12	IRF1	chr19:56859676-56859861	K562	blood:	n/a	n/a
13	RAD21	chr19:56859675-56859903	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr19:56859670-56859855	K562	blood:	n/a	n/a
15	CTCF	chr19:56859614-56860013	K562	blood:	n/a	n/a
16	SP1	chr19:56859592-56859947	H1-hESC	embryonic stem cell:	n/a	n/a
17	CUX1	chr19:56859648-56859747	K562	blood:	n/a	n/a
18	CTCF	chr19:56859632-56860034	K562	blood:	n/a	n/a
19	CTCF	chr19:56859567-56860044	SK-N-SH	brain:	n/a	n/a
20	RAD21	chr19:56859662-56859974	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr19:56859560-56859710	HCM	heart:	n/a	n/a
22	MAX	chr19:56859644-56860008	K562	blood:	n/a	n/a
23	SMC3	chr19:56859671-56859886	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr19:56859652-56860011	GM12878	blood:	n/a	n/a
25	RAD21	chr19:56859675-56859892	HepG2	liver:	n/a	n/a
26	CTCF	chr19:56859436-56860251	A549	lung:	n/a	n/a
27	CTCF	chr19:56859660-56859810	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr19:56859635-56859972	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56825650..56827475-chr19:56859296..56861906,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267429	TF binding region
ENSG00000266932	TF binding region
ENSG00000267549	Chromatin interaction
ENSG00000131848	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	esv1837760	chr19:56850795-56877187	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv580357	chr19:56850949-56869794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv580358	chr19:56851001-56869794	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1829664	chr19:56859584-56864832	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv442475	chr19:56859584-56864832	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56854200-56863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:56855000-56870200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr19:56859200-56859800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr19:56859200-56859800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr19:56859200-56859800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr19:56859200-56860000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr19:56859400-56859800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr19:56859400-56860000	Enhancers	K562	blood
9	chr19:56859400-56872800	Weak transcription	Ovary	ovary
10	chr19:56859600-56859800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr19:56859600-56862400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:56859600-56862400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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