Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:158446487-158446687	K562	blood:	n/a	n/a

Variant related genes	Relation type
OR10R2	TF binding region

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10489830	0.81[JPT][hapmap]
rs11264979	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265017	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12082921	0.81[AMR][1000 genomes]
rs12118413	0.81[JPT][hapmap]
rs12131165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12725721	0.81[JPT][hapmap]
rs12728815	0.81[JPT][hapmap]
rs12729052	0.86[JPT][hapmap]
rs12738597	0.81[JPT][hapmap]
rs1342941	0.81[JPT][hapmap]
rs1342942	0.81[JPT][hapmap]
rs1548355	0.82[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs17628151	0.81[JPT][hapmap]
rs1894039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2106084	0.81[JPT][hapmap]
rs2213946	0.81[JPT][hapmap]
rs36123399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs961562	0.81[JPT][hapmap]
rs989203	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv872480	chr1:158153526-158450238	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10489831	CKS1B	cis	cerebellum	SCAN
rs10489831	CD5L	cis	parietal	SCAN
rs10489831	MNDA	cis	lymphoblastoid	seeQTL
rs10489831	FCRL2	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158436000-158449600	Weak transcription	Thymus	Thymus
2	chr1:158444200-158456600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:158445600-158449600	Weak transcription	Dnd41	blood
4	chr1:158446400-158448000	Strong transcription	Fetal Thymus	thymus

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