Variant report

Variant	rs28420088
Chromosome Location	chr17:16593233-16593234
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:172)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:172 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr17:16593059-16593731	GM12878	blood:	n/a	n/a
2	FOSL2	chr17:16593163-16593573	HepG2	liver:	n/a	n/a
3	CTCF	chr17:16593140-16593290	HPAF	blood vessel:	n/a	n/a
4	ZBTB33	chr17:16593173-16593546	K562	blood:	n/a	n/a
5	CTCF	chr17:16593120-16593270	HCM	heart:	n/a	n/a
6	CTCF	chr17:16593180-16593330	GM12873	blood:	n/a	n/a
7	CTCF	chr17:16593120-16593270	RPTEC	kidney:	n/a	n/a
8	CTCF	chr17:16593221-16593548	GM19240	blood:	n/a	n/a
9	CTCF	chr17:16593180-16593330	AG09319	gingival:	n/a	n/a
10	CTCF	chr17:16593180-16593330	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr17:16593120-16593270	GM12865	blood:	n/a	n/a
12	POLR2A	chr17:16593217-16593748	SK-N-MC	brain:	n/a	n/a
13	CTCF	chr17:16593120-16593270	HRE	kidney:	n/a	n/a
14	CTCF	chr17:16593049-16593609	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr17:16593120-16593270	HMEC	breast:	n/a	n/a
16	JUND	chr17:16593211-16593591	HepG2	liver:	n/a	n/a
17	PAX5	chr17:16593210-16593603	GM12878	blood:	n/a	chr17:16593516-16593533
18	CTCF	chr17:16593180-16593330	HPAF	blood vessel:	n/a	n/a
19	CTCF	chr17:16593120-16593270	HVMF	connective:	n/a	n/a
20	PBX3	chr17:16593217-16593508	GM12878	blood:	n/a	n/a
21	CTCF	chr17:16593180-16593330	HEK293	kidney:	n/a	n/a
22	POU2F2	chr17:16593233-16593509	GM12878	blood:	n/a	n/a
23	CTCF	chr17:16593195-16593610	Gliobla	brain:	n/a	n/a
24	CTCF	chr17:16593120-16593270	GM12873	blood:	n/a	n/a
25	CTCF	chr17:16593120-16593270	MCF-7	breast:	n/a	n/a
26	EBF1	chr17:16593197-16593691	GM12878	blood:	n/a	n/a
27	POLR2A	chr17:16593131-16593501	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr17:16593087-16593358	HepG2	liver:	n/a	n/a
29	CTCF	chr17:16593180-16593330	HepG2	liver:	n/a	n/a
30	RAD21	chr17:16593128-16593540	HepG2	liver:	n/a	n/a
31	CTCF	chr17:16593207-16593573	GM19239	blood:	n/a	n/a
32	CTCF	chr17:16593228-16593530	GM13976	blood:	n/a	n/a
33	POLR2A	chr17:16593070-16593704	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr17:16593166-16593564	MCF-7	breast:	n/a	n/a
35	CTCF	chr17:16593149-16593378	ECC-1	luminal epithelium:	n/a	n/a
36	EP300	chr17:16593144-16593583	GM12878	blood:	n/a	n/a
37	MYBL2	chr17:16593136-16593616	HepG2	liver:	n/a	n/a
38	CTCF	chr17:16593180-16593330	GM12878	blood:	n/a	n/a
39	CTCF	chr17:16593120-16593270	GM12870	blood:	n/a	n/a
40	CTCF	chr17:16593180-16593330	SK-N-SH_RA	brain:	n/a	n/a
41	POLR2A	chr17:16593132-16593602	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr17:16593223-16593563	GM10266	blood:	n/a	n/a
43	CTCF	chr17:16593203-16593569	GM13977	blood:	n/a	n/a
44	CTCF	chr17:16593180-16593330	K562	blood:	n/a	n/a
45	CTCF	chr17:16593206-16593603	GM19238	blood:	n/a	n/a
46	BATF	chr17:16593196-16593604	GM12878	blood:	n/a	n/a
47	TAF1	chr17:16593230-16593512	GM12878	blood:	n/a	n/a
48	PAX5	chr17:16593114-16593757	GM12878	blood:	n/a	chr17:16593516-16593533
49	CTCF	chr17:16593180-16593330	GM12874	blood:	n/a	n/a
50	CTCF	chr17:16593133-16593634	A549	lung:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000266302	TF binding region
RNU6-405P	TF binding region
CCDC144A	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs586579	1.00[AMR][1000 genomes]
rs7212973	1.00[AMR][1000 genomes]
rs73978623	1.00[EUR][1000 genomes]
rs8065008	1.00[AMR][1000 genomes]
rs8078555	1.00[AMR][1000 genomes]
rs9890378	1.00[AMR][1000 genomes]
rs9890566	1.00[AMR][1000 genomes]
rs9896093	1.00[AMR][1000 genomes]
rs9897136	1.00[AMR][1000 genomes]
rs9904989	1.00[AMR][1000 genomes]
rs9906230	1.00[AMR][1000 genomes]
rs9910170	1.00[AMR][1000 genomes]
rs9910345	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
2	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv2758442	chr17:16527056-16817437	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2758676	chr17:16527056-16817437	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv427991	chr17:16527056-16817437	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv907720	chr17:16557606-16758204	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv2756642	chr17:16571504-16734163	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv2757653	chr17:16571504-16764830	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv984504	chr17:16572370-16776542	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	esv2635467	chr17:16589774-16757904	Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16592600-16593600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:16592800-16594000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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