Variant report

Variant	rs558194675
Chromosome Location	chr5:17353980-17353981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:17353814-17354425	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr5:17353803-17353988	HepG2	liver:	n/a	n/a
3	GATA2	chr5:17353802-17354221	K562	blood:	n/a	n/a
4	POLR2A	chr5:17353788-17354037	Hela-S3	cervix:	n/a	n/a
5	HEY1	chr5:17353758-17354777	K562	blood:	n/a	n/a
6	BATF	chr5:17353871-17354044	GM12878	blood:	n/a	n/a
7	USF1	chr5:17353851-17354220	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:17353767-17354792	GM12891	blood:	n/a	n/a
9	POU2F2	chr5:17353809-17354155	GM12878	blood:	n/a	n/a
10	USF1	chr5:17353788-17354194	A549	lung:	n/a	n/a
11	POLR2A	chr5:17353843-17354010	A549	lung:	n/a	n/a
12	POLR2A	chr5:17353940-17354750	GM12892	blood:	n/a	n/a
13	POLR2A	chr5:17353811-17354507	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAL1	chr5:17353899-17354096	K562	blood:	n/a	n/a
15	POLR2A	chr5:17353844-17353989	HepG2	liver:	n/a	n/a
16	IRF4	chr5:17353911-17354417	GM12878	blood:	n/a	n/a
17	USF1	chr5:17353853-17354018	HepG2	liver:	n/a	n/a
18	PAX5	chr5:17353778-17354526	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:17353692-17354737	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:17353811-17354807	GM12891	blood:	n/a	n/a
21	IRF4	chr5:17353792-17354328	GM12878	blood:	n/a	n/a
22	ZBTB33	chr5:17353827-17354166	GM12878	blood:	n/a	n/a
23	POLR2A	chr5:17353871-17354037	H1-hESC	embryonic stem cell:	n/a	n/a
24	HEY1	chr5:17353756-17354227	HepG2	liver:	n/a	n/a
25	USF1	chr5:17353926-17354234	A549	lung:	n/a	n/a
26	SPI1	chr5:17353866-17354042	GM12878	blood:	n/a	n/a
27	ZBTB33	chr5:17353720-17354694	K562	blood:	n/a	n/a
28	POLR2A	chr5:17353729-17354695	GM12878	blood:	n/a	n/a
29	POLR2A	chr5:17353855-17354025	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:17353761-17354800	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:17353763-17354905	Hela-S3	cervix:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000248223	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv461988	chr5:17296342-17484038	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv597313	chr5:17296342-17484038	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv830219	chr5:17325802-17518914	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2763872	chr5:17342482-17358269	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	esv3432739	chr5:17342737-17357177	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
7	esv19164	chr5:17342748-17357008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
8	esv1836524	chr5:17347702-17356239	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
9	nsv441940	chr5:17347702-17356239	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	nsv597316	chr5:17347706-17353999	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv597317	chr5:17347706-17354665	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
12	nsv597318	chr5:17347706-17356166	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
13	nsv597319	chr5:17347706-17356536	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	nsv597320	chr5:17347706-17356614	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
15	nsv514292	chr5:17348248-17355010	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
16	nsv597322	chr5:17351275-17353999	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	nsv597323	chr5:17351275-17356166	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
18	nsv597324	chr5:17352210-17356614	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
19	nsv597325	chr5:17352326-17356166	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
20	nsv597326	chr5:17352326-17356614	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
21	nsv597327	chr5:17352407-17356166	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
22	nsv597328	chr5:17352407-17356614	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
23	nsv597329	chr5:17352741-17356614	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
24	nsv968879	chr5:17353620-17359144	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17344600-17358400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:17351400-17354400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:17352800-17355800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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