Variant report

Variant	rs2594135
Chromosome Location	chr3:60812574-60812575
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11130789	0.81[CEU][hapmap];0.85[GIH][hapmap];0.90[EUR][1000 genomes]
rs11130790	0.81[CEU][hapmap]
rs11130791	0.91[TSI][hapmap]
rs1447915	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1447919	0.95[CEU][hapmap];0.96[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1882897	0.95[EUR][1000 genomes]
rs2594123	1.00[CHB][hapmap]
rs2594134	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2736747	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2736754	1.00[CEU][hapmap];0.96[GIH][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs2736755	1.00[CEU][hapmap];0.96[GIH][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs2736756	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2736758	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28548787	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66782740	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6788545	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529602	chr3:60088353-60830769	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv998815	chr3:60495872-60830769	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv534038	chr3:60781917-60993082	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2757872	chr3:60781943-61019003	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759152	chr3:60781943-61220809	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2594135	RPP14	cis	parietal	SCAN
rs2594135	DNAH12	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60811000-60815200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:60811400-60821200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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