Variant report

Variant	rs17135597
Chromosome Location	chr5:112719722-112719723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10077020	0.86[ASN][1000 genomes]
rs10428666	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10900685	0.92[CEU][hapmap];0.86[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1116547	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241201	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241206	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241209	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11738075	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11738215	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741916	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11741963	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11743052	0.84[CEU][hapmap]
rs11744606	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs11746821	0.81[EUR][1000 genomes]
rs11747924	0.84[JPT][hapmap]
rs11748503	0.96[ASN][1000 genomes]
rs11748794	1.00[JPT][hapmap]
rs11750945	0.82[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12152879	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12514091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12516418	0.91[CEU][hapmap];0.86[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12518849	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs12519323	0.86[JPT][hapmap]
rs12519753	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519818	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12520003	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs12523255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360719	0.86[ASN][1000 genomes]
rs1443683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1517209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586943	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135488	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs17135608	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17135616	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17135630	0.92[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1833678	1.00[JPT][hapmap]
rs1838208	0.86[ASN][1000 genomes]
rs1850407	0.81[AFR][1000 genomes]
rs1850410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1997521	0.84[CEU][hapmap]
rs2042222	0.86[JPT][hapmap]
rs2068923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3846721	0.92[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3846722	0.86[JPT][hapmap]
rs4705551	0.86[JPT][hapmap]
rs4705558	0.86[JPT][hapmap]
rs4705806	0.84[CEU][hapmap]
rs4705807	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs4705808	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs4705809	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs4705814	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705818	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705819	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705826	1.00[JPT][hapmap]
rs59954246	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62374372	0.94[ASN][1000 genomes]
rs66502937	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66583752	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66644309	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66728961	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67268709	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67303814	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67764628	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6861786	0.86[ASN][1000 genomes]
rs6864369	1.00[JPT][hapmap]
rs6864528	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6865809	0.86[JPT][hapmap]
rs6877524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6878001	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6879800	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6882900	0.86[ASN][1000 genomes]
rs6883441	0.86[JPT][hapmap]
rs6884704	1.00[JPT][hapmap]
rs6887565	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs6888602	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs72792179	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73236478	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73236479	0.94[ASN][1000 genomes]
rs7707443	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7717000	0.92[CEU][hapmap];0.86[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7724707	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs7724717	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs7724936	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs7729433	0.86[JPT][hapmap]
rs957777	1.00[JPT][hapmap]
rs9800316	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112715000-112720600	Weak transcription	Aorta	Aorta
2	chr5:112716400-112719800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:112716800-112720600	Weak transcription	Stomach Mucosa	stomach
4	chr5:112717000-112729400	Weak transcription	Fetal Stomach	stomach
5	chr5:112718200-112720400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:112718800-112731400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:112719000-112720200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:112719200-112722200	Weak transcription	NHEK	skin
9	chr5:112719400-112721400	Weak transcription	HMEC	breast
10	chr5:112719400-112724000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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