Variant report

Variant	rs8075712
Chromosome Location	chr17:20817236-20817237
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20815505..20817984-chr17:20903354..20904947,2	MCF-7	breast:
2	chr17:20816615..20818286-chr17:20839545..20841333,2	K562	blood:
3	chr17:20814247..20817277-chr17:20817362..20820386,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10445414	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11204323	0.80[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11653586	1.00[CEU][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12450680	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4280307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4452013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6587100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6587101	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs66762238	0.84[ASN][1000 genomes]
rs7207876	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7215428	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7222400	0.86[GIH][hapmap];0.96[MEX][hapmap];0.81[EUR][1000 genomes]
rs7224181	0.89[GIH][hapmap];0.96[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7501645	0.86[ASN][1000 genomes]
rs7501651	1.00[CEU][hapmap];0.90[ASN][1000 genomes]
rs8067432	0.82[CHD][hapmap]
rs8067705	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8073343	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8075403	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9709208	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9897888	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9902946	1.00[CEU][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs9911380	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9912200	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9912643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv978392	chr17:20813336-20817974	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	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
10	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
11	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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20812200-20824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:20812400-20818000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr17:20812400-20818600	Weak transcription	Left Ventricle	heart
4	chr17:20812600-20819400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:20812600-20819800	Weak transcription	Right Atrium	heart
6	chr17:20812600-20823200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr17:20812600-20830800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr17:20812800-20819000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:20813200-20819600	Weak transcription	Hela-S3	cervix
10	chr17:20817000-20819000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:20817000-20819400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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