Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58982401..58985260-chr2:58985275..58987242,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10865309	0.88[ASN][1000 genomes]
rs12475168	0.88[ASN][1000 genomes]
rs12613375	0.88[ASN][1000 genomes]
rs12618115	0.80[ASN][1000 genomes]
rs12619538	0.81[ASN][1000 genomes]
rs12622165	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13428870	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1641155	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17049709	0.81[ASN][1000 genomes]
rs17049712	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17049722	0.84[ASN][1000 genomes]
rs17615494	0.88[ASN][1000 genomes]
rs1796435	0.84[ASN][1000 genomes]
rs2540324	0.84[ASN][1000 genomes]
rs2540325	0.84[ASN][1000 genomes]
rs2708146	0.88[ASN][1000 genomes]
rs55767040	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62142340	0.80[ASN][1000 genomes]
rs62142342	0.81[ASN][1000 genomes]
rs62144560	0.88[ASN][1000 genomes]
rs6741951	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10176091	USP34	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58983200-58986200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr2:58984000-58986400	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:58985400-58987600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:58985600-58991600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:58985800-58989400	Weak transcription	K562	blood

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