Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58968249..58969958-chr2:58980887..58983346,2	K562	blood:
2	chr2:58957924..58962385-chr2:58965001..58969543,8	K562	blood:

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

rs_ID	r²[population]
rs10176091	0.84[ASN][1000 genomes]
rs10865309	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12475168	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12613375	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12614932	0.82[ASN][1000 genomes]
rs12618115	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12619538	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12622165	0.87[ASN][1000 genomes]
rs13416859	0.85[ASN][1000 genomes]
rs13428870	0.86[ASN][1000 genomes]
rs1641155	0.89[ASN][1000 genomes]
rs17049705	0.86[ASN][1000 genomes]
rs17049709	0.95[ASN][1000 genomes]
rs17049712	0.86[ASN][1000 genomes]
rs17049722	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615494	0.85[ASN][1000 genomes]
rs1796435	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2540325	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708146	0.85[ASN][1000 genomes]
rs55767040	0.85[ASN][1000 genomes]
rs62142340	0.94[ASN][1000 genomes]
rs62142342	0.95[ASN][1000 genomes]
rs62144560	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6741951	0.86[ASN][1000 genomes]
rs6747219	0.82[EUR][1000 genomes]

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	nsv431180	chr2:58857542-59178687	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv528866	chr2:58955953-58975143	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2540324	TMEM17	cis	parietal	SCAN
rs2540324	VRK2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58968000-58969400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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