Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:167750735-167750815	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000225182	TF binding region

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10201897	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11884668	0.83[MKK][hapmap]
rs11888113	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12473079	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12473081	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478429	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1511200	0.85[ASW][hapmap]
rs1567534	0.84[ASW][hapmap]
rs17614234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2063437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4667527	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4667937	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6709784	1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs72882711	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7564737	0.85[ASW][hapmap];0.83[MKK][hapmap];0.85[YRI][hapmap]
rs7566782	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7580842	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7595556	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7595607	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9679716	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529384	chr2:167143465-167958752	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1355415	SSB	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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