Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:125186984..125189728-chr2:125193373..125195505,2	K562	blood:
2	chr2:125185428..125187787-chr2:125189293..125191485,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11123044	0.80[YRI][hapmap]
rs11123045	1.00[YRI][hapmap]
rs11123047	0.97[AFR][1000 genomes]
rs1354392	0.91[AFR][1000 genomes]
rs1365023	0.80[YRI][hapmap]
rs1503998	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs1816171	1.00[YRI][hapmap]
rs2042657	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2089103	0.85[AFR][1000 genomes]
rs2420853	0.88[YRI][hapmap]
rs2553619	0.80[YRI][hapmap]
rs2584357	0.80[YRI][hapmap]
rs2901270	1.00[YRI][hapmap]
rs2968541	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs4278930	1.00[YRI][hapmap]
rs4384799	1.00[YRI][hapmap]
rs4516427	0.80[YRI][hapmap]
rs4589763	0.89[YRI][hapmap]
rs6541952	1.00[YRI][hapmap]
rs6541953	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6541954	0.97[AFR][1000 genomes]
rs6706133	1.00[YRI][hapmap]
rs6707283	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs6731776	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs6735412	1.00[YRI][hapmap]
rs7605769	0.87[YRI][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	nsv1014610	chr2:125124983-125350342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv834355	chr2:125128585-125291043	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv834356	chr2:125141494-125315418	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125187200-125187400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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