Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47573030..47576017-chr3:47582888..47584561,3	K562	blood:
2	chr3:47574471..47577289-chr3:47582862..47584561,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN23-2	chr3:47575529-47575612	XLOC_002639

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

rs_ID	r²[population]
rs1038391	0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11130134	1.00[EUR][1000 genomes]
rs11707272	1.00[TSI][hapmap]
rs11714816	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12631697	0.89[ASW][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.84[AMR][1000 genomes]
rs13091992	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1486916	1.00[EUR][1000 genomes]
rs1531874	1.00[TSI][hapmap]
rs1872165	1.00[TSI][hapmap]
rs2170814	1.00[EUR][1000 genomes]
rs2351249	1.00[EUR][1000 genomes]
rs295451	1.00[TSI][hapmap]
rs295454	1.00[TSI][hapmap]
rs295456	1.00[TSI][hapmap]
rs295457	1.00[TSI][hapmap]
rs4383546	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858812	1.00[TSI][hapmap]
rs4858834	1.00[EUR][1000 genomes]
rs4858855	1.00[EUR][1000 genomes]
rs55736379	1.00[EUR][1000 genomes]
rs6442066	1.00[TSI][hapmap]
rs6442068	1.00[TSI][hapmap]
rs6783591	0.84[AMR][1000 genomes]
rs6791025	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831515	1.00[EUR][1000 genomes]
rs7636126	0.84[AMR][1000 genomes]
rs7644043	1.00[TSI][hapmap]
rs807930	1.00[TSI][hapmap]
rs900693	1.00[TSI][hapmap]
rs900694	1.00[TSI][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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	esv33034	chr3:47565429-47578605	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47574400-47575800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:47574800-47575600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:47574800-47575800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:47575000-47575600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:47575000-47575600	Enhancers	HMEC	breast
6	chr3:47575000-47575600	Flanking Active TSS	NHEK	skin
7	chr3:47575200-47576400	Flanking Active TSS	K562	blood

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