Variant report

Variant	rs6685657
Chromosome Location	chr1:76417440-76417441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1021462	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs10732724	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs10873804	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11161602	0.87[CHB][hapmap];0.82[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap]
rs11161731	0.86[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs11161852	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs11161887	0.86[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap]
rs12021750	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs12022506	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12024645	0.82[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap]
rs12032051	0.87[CHB][hapmap]
rs12033058	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs12044211	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12164500	0.82[CEU][hapmap]
rs12402230	0.82[ASN][1000 genomes]
rs12407107	0.82[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap]
rs12409592	0.87[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap]
rs12410373	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1251579	0.83[ASN][1000 genomes]
rs1251580	0.83[ASN][1000 genomes]
rs1251581	0.87[ASN][1000 genomes]
rs1251587	0.87[ASN][1000 genomes]
rs1251588	0.83[ASN][1000 genomes]
rs1251591	0.82[ASN][1000 genomes]
rs1251594	0.85[ASN][1000 genomes]
rs12567390	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs12732495	0.81[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs1303870	0.81[JPT][hapmap]
rs1498313	0.82[CHD][hapmap]
rs1572859	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1689271	0.86[CHB][hapmap];0.85[CHD][hapmap];0.80[JPT][hapmap]
rs17097543	0.82[YRI][hapmap]
rs17649675	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs1770880	0.83[ASN][1000 genomes]
rs1796812	0.91[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs1908089	0.81[JPT][hapmap]
rs2028212	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2066213	0.81[JPT][hapmap]
rs2307077	0.82[CHD][hapmap]
rs35290302	0.87[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap]
rs3737574	0.82[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap]
rs3795251	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3819949	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap]
rs5745314	0.82[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs5745334	0.82[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs5745429	0.87[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.95[TSI][hapmap]
rs5745448	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.97[TSI][hapmap]
rs5745464	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs5745523	0.85[JPT][hapmap]
rs5745532	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap]
rs5745546	0.85[JPT][hapmap]
rs6693002	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6696513	0.82[YRI][hapmap]
rs7520312	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7524665	0.85[ASN][1000 genomes]
rs7525919	0.82[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs7545057	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7548991	0.81[CHB][hapmap]
rs931506	0.80[CHB][hapmap];0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76402800-76420000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:76415000-76418600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76415800-76420400	Weak transcription	Brain Anterior Caudate	brain
4	chr1:76417400-76417800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:76417400-76417800	Enhancers	A549	lung

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