Variant report

Variant	rs4054234
Chromosome Location	chr17:15732334-15732335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr17:15732029-15732447	A549	lung:	n/a	n/a
2	MAZ	chr17:15732176-15732376	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr17:15732046-15732384	H1-hESC	embryonic stem cell:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
4	CEBPB	chr17:15732160-15732382	Hela-S3	cervix:	n/a	n/a
5	ZNF143	chr17:15732032-15732386	GM12878	blood:	n/a	n/a
6	CTCF	chr17:15731919-15732527	K562	blood:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
7	CTCF	chr17:15732127-15732354	HepG2	liver:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
8	CTCF	chr17:15732120-15732390	HCM	heart:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
9	CTCF	chr17:15732082-15732375	GM10266	blood:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
10	CTCF	chr17:15732100-15732370	GM12870	blood:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
11	YY1	chr17:15732118-15732344	HepG2	liver:	n/a	n/a
12	CTCF	chr17:15732064-15732408	HUVEC	blood vessel:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
13	CTCF	chr17:15732078-15732439	Gliobla	brain:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
14	POU2F2	chr17:15731973-15732470	GM12878	blood:	n/a	chr17:15732312-15732324 chr17:15732216-15732228
15	POLR2A	chr17:15732026-15732362	PANC-1	pancreas:	n/a	n/a
16	CTCF	chr17:15732133-15732388	T-47D	breast:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
17	CTCF	chr17:15731993-15732432	A549	lung:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
18	CTCF	chr17:15732200-15732350	WERI-Rb-1	eye:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
19	RCOR1	chr17:15732191-15732350	K562	blood:	n/a	n/a
20	POLR2A	chr17:15732260-15732334	Gliobla	brain:	n/a	n/a
21	YY1	chr17:15732097-15732337	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr17:15732092-15732394	GM19239	blood:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
23	CTCF	chr17:15732088-15732406	MCF-7	breast:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
24	MYC	chr17:15732135-15732368	MCF10A-Er-Src	breast:	n/a	n/a
25	ARID3A	chr17:15732174-15732334	K562	blood:	n/a	n/a
26	RAD21	chr17:15731935-15732348	A549	lung:	n/a	chr17:15732217-15732230 chr17:15732219-15732231 chr17:15732214-15732233
27	FOXP2	chr17:15732144-15732426	PFSK-1	brain:	n/a	n/a
28	GTF2F1	chr17:15732154-15732370	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr17:15732086-15732433	MCF-7	breast:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
30	CTCF	chr17:15732110-15732344	ECC-1	luminal epithelium:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
31	MYC	chr17:15732173-15732362	K562	blood:	n/a	n/a
32	MXI1	chr17:15731913-15732806	SK-N-SH	brain:	n/a	n/a
33	MYC	chr17:15732162-15732356	MCF-7	breast:	n/a	n/a
34	RAD21	chr17:15732115-15732375	HCT-116	colon:	n/a	chr17:15732217-15732230 chr17:15732219-15732231 chr17:15732214-15732233
35	ARID3A	chr17:15732156-15732356	HepG2	liver:	n/a	n/a
36	RAD21	chr17:15732124-15732346	ECC-1	luminal epithelium:	n/a	chr17:15732217-15732230 chr17:15732219-15732231 chr17:15732214-15732233
37	SIN3AK20	chr17:15732075-15732399	SK-N-SH	brain:	n/a	n/a
38	FOS	chr17:15732161-15732335	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr17:15732161-15732336	MCF10A-Er-Src	breast:	n/a	n/a
40	CTCF	chr17:15732078-15732417	Spleen_OC	spleen:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
41	IRF4	chr17:15732058-15732486	GM12878	blood:	n/a	n/a
42	YY1	chr17:15732129-15732335	GM12891	blood:	n/a	n/a
43	CTCF	chr17:15732030-15732508	K562	blood:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
44	RFX5	chr17:15732135-15732355	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr17:15732020-15732414	Lung_OC	lung:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
46	ZNF143	chr17:15732147-15732390	K562	blood:	n/a	n/a
47	RAD21	chr17:15732042-15732371	SK-N-SH_RA	brain:	n/a	chr17:15732217-15732230 chr17:15732219-15732231 chr17:15732214-15732233
48	CTCF	chr17:15732128-15732364	SK-N-SH_RA	brain:	n/a	chr17:15732214-15732230 chr17:15732213-15732231 chr17:15732216-15732229
49	MAZ	chr17:15732143-15732384	K562	blood:	n/a	n/a
50	MYC	chr17:15732135-15732374	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15731737..15732560-chr17:15901825..15902694,3	MCF-7	breast:
2	chr17:15732168..15733133-chr17:15847994..15848750,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227790	TF binding region
ENSG00000170425	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	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
4	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
8	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	nsv978371	chr17:15726145-15735621	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv962264	chr17:15726145-15784073	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 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	chr17:15732000-15732400	Enhancers	Duodenum Mucosa	Duodenum
2	chr17:15732200-15732600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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