Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30598739..30601179-chr2:30602874..30604412,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10514770	0.85[EUR][1000 genomes]
rs11127273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252616	0.85[EUR][1000 genomes]
rs1252617	0.81[EUR][1000 genomes]
rs1252618	0.84[EUR][1000 genomes]
rs12993465	0.85[EUR][1000 genomes]
rs13012193	0.85[EUR][1000 genomes]
rs13033921	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2030744	0.85[EUR][1000 genomes]
rs35909231	0.84[EUR][1000 genomes]
rs4519571	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6548012	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6548013	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7572690	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7583194	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7583844	0.93[EUR][1000 genomes]
rs7593766	0.85[EUR][1000 genomes]
rs829588	0.97[EUR][1000 genomes]
rs829590	0.85[EUR][1000 genomes]
rs829610	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs829611	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs829612	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs829613	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs829614	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs9917125	0.85[EUR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv873769	chr2:30585638-30625264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30585600-30605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:30603200-30604400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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