Variant report

Variant	rs17158217
Chromosome Location	chr10:43366848-43366849
allele	C/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	USF1	chr10:43366431-43366865	SK-N-SH	brain:	n/a	chr10:43366705-43366726 chr10:43366710-43366721 chr10:43366712-43366721
2	CTCF	chr10:43366840-43366990	HPAF	blood vessel:	n/a	n/a
3	SIN3AK20	chr10:43366847-43367030	PFSK-1	brain:	n/a	n/a
4	YY1	chr10:43366683-43367300	SK-N-SH_RA	brain:	n/a	chr10:43367237-43367247
5	REST	chr10:43366300-43367166	SK-N-SH	brain:	n/a	chr10:43366417-43366425 chr10:43366553-43366573 chr10:43366554-43366572 chr10:43366553-43366573
6	USF1	chr10:43366498-43367093	SK-N-SH_RA	brain:	n/a	chr10:43366705-43366726 chr10:43366710-43366721 chr10:43366712-43366721
7	ELF1	chr10:43366831-43367040	K562	blood:	n/a	chr10:43366957-43366970
8	POLR2A	chr10:43366622-43367157	SK-N-SH	brain:	n/a	n/a
9	USF1	chr10:43366560-43366852	HepG2	liver:	n/a	chr10:43366705-43366726 chr10:43366710-43366721 chr10:43366712-43366721
10	REST	chr10:43366715-43367054	PFSK-1	brain:	n/a	n/a
11	RAD21	chr10:43366671-43367243	SK-N-SH_RA	brain:	n/a	chr10:43366765-43366778
12	USF1	chr10:43366481-43366975	SK-N-SH_RA	brain:	n/a	chr10:43366705-43366726 chr10:43366710-43366721 chr10:43366712-43366721
13	EP300	chr10:43365742-43368030	SK-N-SH	brain:	n/a	chr10:43366096-43366105 chr10:43367734-43367750
14	REST	chr10:43366755-43367055	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr10:43366840-43366990	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr10:43366840-43366990	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr10:43366820-43366970	HCM	heart:	n/a	n/a
18	POLR2A	chr10:43366409-43367090	NB4	blood:	n/a	n/a
19	RAD21	chr10:43366213-43367190	SK-N-SH_RA	brain:	n/a	chr10:43366573-43366586 chr10:43366765-43366778 chr10:43366547-43366560 chr10:43366461-43366473
20	CTCF	chr10:43366840-43366990	HepG2	liver:	n/a	n/a
21	CEBPB	chr10:43366799-43367005	Hela-S3	cervix:	n/a	n/a
22	REST	chr10:43366794-43367135	PFSK-1	brain:	n/a	n/a
23	BHLHE40	chr10:43366559-43366917	HepG2	liver:	n/a	chr10:43366705-43366726 chr10:43366712-43366721
24	MAX	chr10:43366525-43367071	NB4	blood:	n/a	n/a
25	YY1	chr10:43366461-43367315	SK-N-SH_RA	brain:	n/a	chr10:43367237-43367247 chr10:43366680-43366691
26	GATA2	chr10:43366563-43367515	SH-SY5Y	brain:	n/a	n/a
27	EP300	chr10:43366461-43367595	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr10:43366760-43366910	HVMF	connective:	n/a	n/a
29	CTCF	chr10:43366820-43366970	HPAF	blood vessel:	n/a	n/a
30	MXI1	chr10:43366004-43367693	SK-N-SH	brain:	n/a	n/a
31	EP300	chr10:43366535-43367265	SK-N-SH_RA	brain:	n/a	n/a
32	MYC	chr10:43366650-43367068	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43363801..43367756-chr10:43571423..43575718,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234944	TF binding region
ENSG00000165731	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12246736	0.81[JPT][hapmap]
rs12571675	1.00[EUR][1000 genomes]
rs12572583	1.00[EUR][1000 genomes]
rs17158149	1.00[EUR][1000 genomes]
rs17158189	1.00[EUR][1000 genomes]
rs17158196	1.00[EUR][1000 genomes]
rs17158241	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35945975	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3758515	1.00[EUR][1000 genomes]
rs3758517	1.00[EUR][1000 genomes]
rs61844826	1.00[EUR][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	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv1047838	chr10:43234590-43379219	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv947892	chr10:43358233-43368929	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43362200-43368400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:43362200-43370600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:43363200-43371400	Weak transcription	Fetal Heart	heart
4	chr10:43365000-43370400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:43366200-43368200	Enhancers	Fetal Muscle Leg	muscle
6	chr10:43366200-43368600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr10:43366400-43367000	Bivalent/Poised TSS	HepG2	liver
8	chr10:43366400-43367200	Enhancers	Left Ventricle	heart
9	chr10:43366400-43367200	Enhancers	Spleen	Spleen
10	chr10:43366400-43367400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr10:43366400-43367600	Bivalent Enhancer	Placenta	Placenta
12	chr10:43366400-43367800	Enhancers	Fetal Lung	lung
13	chr10:43366400-43368000	Enhancers	Lung	lung
14	chr10:43366400-43368000	Enhancers	Right Ventricle	heart
15	chr10:43366400-43368400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
16	chr10:43366400-43368400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr10:43366400-43368600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr10:43366600-43367800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:43366600-43367800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr10:43366600-43367800	Bivalent Enhancer	Fetal Stomach	stomach
21	chr10:43366800-43367000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:43366800-43367000	Enhancers	Colonic Mucosa	Colon
23	chr10:43366800-43367200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr10:43366800-43367200	Enhancers	NHDF-Ad	bronchial

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