Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189777096..189779612-chr2:189781181..189782810,2	K562	blood:

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11675562	1.00[ASN][1000 genomes]
rs13306264	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1516440	0.93[AMR][1000 genomes]
rs1516441	0.93[AMR][1000 genomes]
rs16830872	0.86[AMR][1000 genomes]
rs17241638	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17291017	0.93[AMR][1000 genomes]
rs17357387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17357408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1914028	0.84[AMR][1000 genomes]
rs1914029	0.93[AMR][1000 genomes]
rs1914030	0.95[AMR][1000 genomes]
rs4308073	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56284022	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6414122	1.00[JPT][hapmap]
rs67712818	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72908672	1.00[ASN][1000 genomes]
rs72908674	1.00[ASN][1000 genomes]
rs72908683	1.00[ASN][1000 genomes]
rs72908687	0.95[ASN][1000 genomes]
rs72910726	1.00[ASN][1000 genomes]
rs72910727	1.00[ASN][1000 genomes]
rs72910734	0.89[ASN][1000 genomes]
rs72910737	0.89[ASN][1000 genomes]
rs73033503	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73033510	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73050211	0.93[AMR][1000 genomes]
rs73050212	0.93[AMR][1000 genomes]
rs73050213	0.95[AMR][1000 genomes]
rs73050229	0.93[AMR][1000 genomes]
rs73052303	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs73052342	0.91[AMR][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	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv834490	chr2:189703550-189840963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875608	chr2:189753823-189837995	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189781200-189781600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:189781200-189781600	Enhancers	Colon Smooth Muscle	Colon
3	chr2:189781200-189781600	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr2:189781200-189781600	Enhancers	Rectal Smooth Muscle	rectum
5	chr2:189781200-189781800	Enhancers	Fetal Stomach	stomach

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