Variant report

Variant	rs8073343
Chromosome Location	chr17:20841657-20841658
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	CEBPB	chr17:20841580-20841935	K562	blood:	n/a	chr17:20841749-20841760
2	POLR2A	chr17:20841379-20841702	HepG2	liver:	n/a	n/a
3	CEBPB	chr17:20841542-20841914	MCF-7	breast:	n/a	chr17:20841749-20841760
4	CEBPB	chr17:20841567-20841944	HepG2	liver:	n/a	chr17:20841749-20841760
5	CEBPB	chr17:20841568-20841819	K562	blood:	n/a	chr17:20841749-20841760
6	CEBPB	chr17:20841595-20841867	Hela-S3	cervix:	n/a	chr17:20841749-20841760
7	CEBPB	chr17:20841588-20841896	H1-hESC	embryonic stem cell:	n/a	chr17:20841749-20841760
8	CEBPB	chr17:20841566-20841932	A549	lung:	n/a	chr17:20841749-20841760
9	CEBPB	chr17:20841579-20841930	IMR90	lung:	n/a	chr17:20841749-20841760

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20839289..20841675-chr17:20882909..20885590,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DHRS7B-5	chr17:20841406-20841835	ENSG00000233098.3

Variant related genes	Relation type
ENSG00000264660	TF binding region
ENSG00000265099	TF binding region
ENSG00000233098	TF binding region
ENSG00000266009	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10445414	0.81[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11204323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4280307	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4452013	0.80[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6587100	0.80[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6587101	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587102	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7207876	0.91[JPT][hapmap]
rs7215428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217110	0.84[ASN][1000 genomes]
rs7222400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7501651	0.83[CEU][hapmap]
rs8067705	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8075403	0.81[EUR][1000 genomes]
rs8075712	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9897888	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9911380	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9912200	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9912643	0.80[AMR][1000 genomes];0.84[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	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv3361931	chr17:20539962-20845258	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv3330516	chr17:20572433-20862663	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1064365	chr17:20801739-20890716	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats 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	71 gene(s)	inside rSNPs	diseases
6	nsv574597	chr17:20802778-20872331	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv527161	chr17:20814766-20872331	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv457706	chr17:20814766-20872331	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv574598	chr17:20814766-20872331	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20827200-20856200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:20831000-20846800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr17:20831000-20847200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:20831400-20847000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr17:20831600-20845800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:20832400-20847800	Weak transcription	Gastric	stomach
7	chr17:20834200-20846800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr17:20834600-20847200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr17:20834600-20847800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:20835600-20869000	Weak transcription	HepG2	liver
11	chr17:20837000-20841800	Enhancers	Hela-S3	cervix
12	chr17:20838600-20852400	Weak transcription	K562	blood
13	chr17:20839400-20842400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:20839600-20844800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:20840600-20842200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:20840800-20842200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:20841200-20842200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:20841400-20842200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr17:20841400-20842600	Weak transcription	NHDF-Ad	bronchial
20	chr17:20841600-20847400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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