Variant report

Variant	rs548328207
Chromosome Location	chr17:45249157-45249158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 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	NRF1	chr17:45249115-45249529	Hela-S3	cervix:	n/a	n/a
7	BRF2	chr17:45249141-45249524	Hela-S3	cervix:	n/a	n/a
8	ZNF384	chr17:45249117-45249516	GM12878	blood:	n/a	n/a
9	GTF2F1	chr17:45249146-45249521	H1-hESC	embryonic stem cell:	n/a	n/a
10	PRDM1	chr17:45249129-45249525	Hela-S3	cervix:	n/a	n/a
11	IKZF1	chr17:45249128-45249511	GM12878	blood:	n/a	n/a
12	TBP	chr17:45249127-45249530	K562	blood:	n/a	n/a
13	IRF3	chr17:45249114-45249534	GM12878	blood:	n/a	n/a
14	SIN3A	chr17:45249127-45249521	GM12878	blood:	n/a	n/a
15	E2F1	chr17:45249140-45249527	Hela-S3	cervix:	n/a	n/a
16	MAFF	chr17:45249111-45249533	K562	blood:	n/a	n/a
17	RPC155	chr17:45249143-45249524	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr17:45249109-45249528	K562	blood:	n/a	chr17:45249301-45249312
19	FOS	chr17:45249129-45249519	MCF10A-Er-Src	breast:	n/a	n/a
20	SUZ12	chr17:45249142-45249522	H1-hESC	embryonic stem cell:	n/a	n/a
21	CUX1	chr17:45249114-45249534	GM12878	blood:	n/a	n/a
22	UBTF	chr17:45249119-45249526	K562	blood:	n/a	n/a
23	TCF7L2	chr17:45249153-45249462	HepG2	liver:	n/a	n/a
24	FOS	chr17:45249128-45249513	MCF10A-Er-Src	breast:	n/a	n/a
25	SMC3	chr17:45249127-45249533	Hela-S3	cervix:	n/a	n/a
26	ELK1	chr17:45249114-45249528	K562	blood:	n/a	n/a
27	CEBPB	chr17:45249135-45249516	HepG2	liver:	n/a	chr17:45249301-45249312
28	SMC3	chr17:45249111-45249543	GM12878	blood:	n/a	n/a
29	POLR2A	chr17:45249130-45249442	MCF-7	breast:	n/a	n/a
30	GTF2F1	chr17:45249128-45249528	K562	blood:	n/a	n/a
31	CHD2	chr17:45249129-45249530	K562	blood:	n/a	n/a
32	ZNF274	chr17:45249118-45249527	GM08714	blood:	n/a	n/a
33	TBL1XR1	chr17:45249112-45249532	K562	blood:	n/a	n/a
34	ZNF274	chr17:45249155-45249369	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZNF274	chr17:45249145-45249519	GM12878	blood:	n/a	n/a
36	MAX	chr17:45249145-45249496	K562	blood:	n/a	n/a
37	BACH1	chr17:45249113-45249530	K562	blood:	n/a	n/a
38	RCOR1	chr17:45249110-45249521	Hela-S3	cervix:	n/a	n/a
39	MYC	chr17:45249122-45249466	GM12878	blood:	n/a	n/a
40	STAT3	chr17:45249146-45249509	MCF10A-Er-Src	breast:	n/a	chr17:45249215-45249223
41	FOXP2	chr17:45249099-45249454	SK-N-MC	brain:	n/a	n/a
42	USF2	chr17:45249145-45249525	HepG2	liver:	n/a	n/a
43	POLR2A	chr17:45249110-45249416	Gliobla	brain:	n/a	n/a
44	CEBPB	chr17:45249111-45249526	Hela-S3	cervix:	n/a	chr17:45249301-45249312
45	ZKSCAN1	chr17:45249138-45249521	Hela-S3	cervix:	n/a	n/a
46	RFX5	chr17:45249113-45249558	K562	blood:	n/a	n/a
47	WRNIP1	chr17:45249114-45249529	GM12878	blood:	n/a	n/a
48	GTF2F1	chr17:45249127-45249528	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr17:45249142-45249511	MCF10A-Er-Src	breast:	n/a	n/a
50	GATA3	chr17:45248978-45249599	SH-SY5Y	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45248819..45249322-chr2:133018957..133019458,2	MCF-7	breast:
2	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	esv3393378	chr17:45235569-45249387	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv5729	chr17:45235587-45249403	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	esv3344853	chr17:45247305-45249388	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3330990	chr17:45247317-45249388	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3382429	chr17:45247350-45249332	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv6495	chr17:45247369-45249359	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3390672	chr17:45247370-45249302	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	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
14	esv3503417	chr17:45247389-45249294	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3503418	chr17:45247389-45249294	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3403611	chr17:45247393-45249285	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45234600-45249200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:45234600-45249400	Strong transcription	A549	lung
3	chr17:45235800-45249200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:45235800-45249200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:45235800-45249200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:45235800-45249200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:45235800-45249200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:45235800-45249200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr17:45235800-45249200	Weak transcription	Stomach Mucosa	stomach
10	chr17:45235800-45249200	Weak transcription	HSMMtube	muscle
11	chr17:45237400-45249200	Weak transcription	Aorta	Aorta
12	chr17:45237400-45249200	Weak transcription	Small Intestine	intestine
13	chr17:45239000-45249200	Weak transcription	Right Ventricle	heart
14	chr17:45239200-45249200	Weak transcription	Brain Angular Gyrus	brain
15	chr17:45241000-45249200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr17:45242200-45249200	Weak transcription	Right Atrium	heart
17	chr17:45242400-45249200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr17:45245800-45249200	Weak transcription	Esophagus	oesophagus
19	chr17:45245800-45249200	Weak transcription	Ovary	ovary
20	chr17:45246400-45251600	Weak transcription	Fetal Brain Female	brain
21	chr17:45246600-45251600	Weak transcription	Brain Germinal Matrix	brain
22	chr17:45246800-45249200	Weak transcription	Placenta	Placenta
23	chr17:45246800-45249200	Weak transcription	Lung	lung
24	chr17:45246800-45251200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:45246800-45254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:45247000-45249200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:45247600-45249200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr17:45247600-45249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:45247600-45249200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr17:45247600-45249200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr17:45247600-45249200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr17:45247600-45249200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:45247600-45249200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr17:45247600-45249200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr17:45247600-45249200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr17:45247600-45249200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr17:45247600-45249200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr17:45247600-45249200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr17:45247600-45249200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:45247600-45249200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr17:45247600-45249200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr17:45247600-45249200	Weak transcription	Primary B cells from cord blood	blood
43	chr17:45247600-45249200	Weak transcription	Primary T cells from cord blood	blood
44	chr17:45247600-45249200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr17:45247600-45249200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr17:45247600-45249200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr17:45247600-45249200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr17:45247600-45249200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr17:45247600-45249200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr17:45247600-45249200	Weak transcription	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links