Variant report

Variant	rs564718671
Chromosome Location	chr17:45249450-45249451
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr17:45249114-45249529	GM12878	blood:	n/a	n/a
2	ELK1	chr17:45249119-45249518	Hela-S3	cervix:	n/a	n/a
3	MYC	chr17:45249097-45249497	MCF-7	breast:	n/a	n/a
4	STAT3	chr17:45249126-45249515	MCF10A-Er-Src	breast:	n/a	chr17:45249215-45249223
5	POLR2A	chr17:45249147-45249527	MCF10A-Er-Src	breast:	n/a	n/a
6	CTCF	chr17:45249300-45249450	HRE	kidney:	n/a	n/a
7	BCL3	chr17:45249209-45249491	GM12878	blood:	n/a	n/a
8	NRF1	chr17:45249115-45249529	Hela-S3	cervix:	n/a	n/a
9	BRF2	chr17:45249141-45249524	Hela-S3	cervix:	n/a	n/a
10	ZNF384	chr17:45249117-45249516	GM12878	blood:	n/a	n/a
11	GTF2F1	chr17:45249146-45249521	H1-hESC	embryonic stem cell:	n/a	n/a
12	PRDM1	chr17:45249129-45249525	Hela-S3	cervix:	n/a	n/a
13	IKZF1	chr17:45249128-45249511	GM12878	blood:	n/a	n/a
14	TBP	chr17:45249127-45249530	K562	blood:	n/a	n/a
15	IRF3	chr17:45249114-45249534	GM12878	blood:	n/a	n/a
16	SIN3A	chr17:45249127-45249521	GM12878	blood:	n/a	n/a
17	E2F1	chr17:45249140-45249527	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr17:45249300-45249450	BJ	skin:	n/a	n/a
19	MAFF	chr17:45249111-45249533	K562	blood:	n/a	n/a
20	RPC155	chr17:45249143-45249524	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr17:45249109-45249528	K562	blood:	n/a	chr17:45249301-45249312
22	FOS	chr17:45249129-45249519	MCF10A-Er-Src	breast:	n/a	n/a
23	SUZ12	chr17:45249142-45249522	H1-hESC	embryonic stem cell:	n/a	n/a
24	CUX1	chr17:45249114-45249534	GM12878	blood:	n/a	n/a
25	UBTF	chr17:45249119-45249526	K562	blood:	n/a	n/a
26	TCF7L2	chr17:45249153-45249462	HepG2	liver:	n/a	n/a
27	FOS	chr17:45249128-45249513	MCF10A-Er-Src	breast:	n/a	n/a
28	SMC3	chr17:45249127-45249533	Hela-S3	cervix:	n/a	n/a
29	ELK1	chr17:45249114-45249528	K562	blood:	n/a	n/a
30	CEBPB	chr17:45249135-45249516	HepG2	liver:	n/a	chr17:45249301-45249312
31	SMC3	chr17:45249111-45249543	GM12878	blood:	n/a	n/a
32	CTCF	chr17:45249320-45249470	HEEpiC	esophagus:	n/a	n/a
33	GTF2F1	chr17:45249128-45249528	K562	blood:	n/a	n/a
34	CHD2	chr17:45249129-45249530	K562	blood:	n/a	n/a
35	ZNF274	chr17:45249118-45249527	GM08714	blood:	n/a	n/a
36	TBL1XR1	chr17:45249112-45249532	K562	blood:	n/a	n/a
37	ZNF274	chr17:45249145-45249519	GM12878	blood:	n/a	n/a
38	MAX	chr17:45249145-45249496	K562	blood:	n/a	n/a
39	BACH1	chr17:45249113-45249530	K562	blood:	n/a	n/a
40	RCOR1	chr17:45249110-45249521	Hela-S3	cervix:	n/a	n/a
41	MYC	chr17:45249122-45249466	GM12878	blood:	n/a	n/a
42	STAT3	chr17:45249146-45249509	MCF10A-Er-Src	breast:	n/a	chr17:45249215-45249223
43	POLR2A	chr17:45249281-45249513	GM12878	blood:	n/a	n/a
44	FOXP2	chr17:45249099-45249454	SK-N-MC	brain:	n/a	n/a
45	USF2	chr17:45249145-45249525	HepG2	liver:	n/a	n/a
46	CEBPB	chr17:45249111-45249526	Hela-S3	cervix:	n/a	chr17:45249301-45249312
47	ZKSCAN1	chr17:45249138-45249521	Hela-S3	cervix:	n/a	n/a
48	RFX5	chr17:45249113-45249558	K562	blood:	n/a	n/a
49	WRNIP1	chr17:45249114-45249529	GM12878	blood:	n/a	n/a
50	GTF2F1	chr17:45249127-45249528	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45247336..45250133-chr17:45265157..45267526,3	MCF-7	breast:

No data

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3584	chr17:45246216-45265642	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3790	chr17:45247093-45261518	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3344584	chr17:45247298-45258989	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv6873	chr17:45247370-45266575	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv978432	chr17:45249035-45250065	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3438623	chr17:45249255-45266618	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3333194	chr17:45249306-45249495	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3437669	chr17:45249306-45259022	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv8330	chr17:45249307-45266621	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3314728	chr17:45249324-45258982	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3314730	chr17:45249324-45258982	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv3431737	chr17:45249325-45259054	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv3374428	chr17:45249343-45266580	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	esv3362151	chr17:45249372-45258977	ZNF genes & repeats Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv3450592	chr17:45249392-45258947	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45246400-45251600	Weak transcription	Fetal Brain Female	brain
2	chr17:45246600-45251600	Weak transcription	Brain Germinal Matrix	brain
3	chr17:45246800-45251200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:45246800-45254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:45247600-45255400	Strong transcription	HepG2	liver
6	chr17:45248400-45250800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr17:45249000-45249600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
8	chr17:45249200-45249600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr17:45249200-45249600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr17:45249200-45249600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:45249200-45249600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:45249200-45249600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:45249200-45249600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr17:45249200-45249600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:45249200-45249600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:45249200-45249600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:45249200-45249600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr17:45249200-45249600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:45249200-45249600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr17:45249200-45249600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr17:45249200-45249600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr17:45249200-45249600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:45249200-45249600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr17:45249200-45249600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr17:45249200-45249600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr17:45249200-45249600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:45249200-45249600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:45249200-45249600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:45249200-45249600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:45249200-45249600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:45249200-45249600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr17:45249200-45249600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr17:45249200-45249600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
34	chr17:45249200-45249600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
35	chr17:45249200-45249600	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr17:45249200-45249600	ZNF genes & repeats	Primary T cells from cord blood	blood
37	chr17:45249200-45249600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
38	chr17:45249200-45249600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr17:45249200-45249600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr17:45249200-45249600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:45249200-45249600	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
42	chr17:45249200-45249600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
43	chr17:45249200-45249600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
44	chr17:45249200-45249600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
45	chr17:45249200-45249600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
46	chr17:45249200-45249600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
47	chr17:45249200-45249600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
48	chr17:45249200-45249600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:45249200-45249600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
50	chr17:45249200-45249600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood

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