Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:222190318-222190389	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000212094	TF binding region

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

rs_ID	r²[population]
rs10863674	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118911	0.83[EUR][1000 genomes]
rs11118921	0.92[EUR][1000 genomes]
rs11118922	0.92[EUR][1000 genomes]
rs11118923	0.92[EUR][1000 genomes]
rs11118924	0.93[EUR][1000 genomes]
rs11118925	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11118929	0.87[EUR][1000 genomes]
rs12035755	0.84[ASN][1000 genomes]
rs12036536	0.95[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs12070612	0.88[EUR][1000 genomes]
rs12082069	0.86[EUR][1000 genomes]
rs12090915	0.91[EUR][1000 genomes]
rs12403104	0.82[EUR][1000 genomes]
rs17441981	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17495034	0.95[EUR][1000 genomes]
rs34736719	0.83[EUR][1000 genomes]
rs61823898	0.91[EUR][1000 genomes]
rs6686477	0.90[ASN][1000 genomes]
rs7538348	0.92[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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2225999	EPRS	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222183200-222191400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:222187200-222191400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:222188200-222191000	Weak transcription	Fetal Brain Male	brain
4	chr1:222189600-222190800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:222189800-222191000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:222190000-222191000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:222190200-222190600	Enhancers	Skeletal Muscle Male	skeletal muscle

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