Variant report

Variant	rs17260445
Chromosome Location	chr1:210670785-210670786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10489381	1.00[ASN][1000 genomes]
rs11582700	1.00[YRI][hapmap]
rs12121595	1.00[ASN][1000 genomes]
rs12122405	1.00[ASN][1000 genomes]
rs12129347	1.00[CHD][hapmap]
rs12132714	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12723999	1.00[ASN][1000 genomes]
rs12727682	1.00[ASN][1000 genomes]
rs12728693	1.00[YRI][hapmap]
rs12728944	1.00[ASN][1000 genomes]
rs12736400	1.00[ASN][1000 genomes]
rs12741813	1.00[ASN][1000 genomes]
rs12741858	1.00[ASN][1000 genomes]
rs12745578	1.00[ASN][1000 genomes]
rs12749416	1.00[ASN][1000 genomes]
rs12750086	1.00[ASN][1000 genomes]
rs17260522	1.00[CHD][hapmap]
rs17260529	1.00[CHD][hapmap]
rs2473623	1.00[YRI][hapmap]
rs34167770	1.00[ASN][1000 genomes]
rs35288720	1.00[ASN][1000 genomes]
rs35374511	1.00[ASN][1000 genomes]
rs4500315	1.00[YRI][hapmap]
rs4540660	1.00[ASN][1000 genomes]
rs61826932	1.00[ASN][1000 genomes]
rs61828077	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828094	1.00[ASN][1000 genomes]
rs61828095	1.00[ASN][1000 genomes]
rs6540602	1.00[CHD][hapmap]
rs6657514	1.00[ASN][1000 genomes]
rs6675248	0.94[CEU][hapmap];0.97[EUR][1000 genomes]
rs6681264	1.00[ASN][1000 genomes]
rs6691136	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701536	1.00[ASN][1000 genomes]
rs7534803	0.90[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550888	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv4376	chr1:210627620-210672326	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv873147	chr1:210665583-210696806	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17260445	LOC642587	cis	parietal	SCAN
rs17260445	LGTN	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210643200-210674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210653800-210678800	Weak transcription	HSMM	muscle
3	chr1:210663600-210672400	Weak transcription	HSMMtube	muscle
4	chr1:210667600-210672400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:210668000-210674000	Weak transcription	Aorta	Aorta
6	chr1:210670200-210673200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:210670200-210678800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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