Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197809186..197812182-chr1:197819659..197821945,2	K562	blood:
2	chr1:197817283..197820451-chr1:197820588..197822788,3	K562	blood:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10922288	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs10922299	0.99[ASN][1000 genomes]
rs10922304	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10922326	1.00[MEX][hapmap]
rs12026183	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12118454	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12140293	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12740849	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs1342694	0.84[CEU][hapmap]
rs1342696	0.83[CEU][hapmap]
rs1499593	0.84[CEU][hapmap]
rs1539413	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs1622740	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs1747822	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs1747823	0.84[CEU][hapmap]
rs1747825	0.84[CEU][hapmap]
rs1775456	0.84[CEU][hapmap]
rs1775464	0.84[CEU][hapmap]
rs1775465	0.83[CEU][hapmap]
rs1775466	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs1775467	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs1775468	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs1775469	0.84[CEU][hapmap]
rs2477069	0.84[CEU][hapmap]
rs2488394	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs2488396	0.84[CEU][hapmap]
rs2497862	0.84[CEU][hapmap]
rs2649556	0.84[CEU][hapmap]
rs6697696	0.84[CEU][hapmap]
rs6704186	0.82[CEU][hapmap]

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	nsv1009697	chr1:197804294-197825037	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv999662	chr1:197821769-197892803	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
3	esv2762214	chr1:197821769-197897496	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197821600-197822800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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