Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58970175..58971703-chr2:58974690..58977052,2	K562	blood:

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

rs_ID	r²[population]
rs10176091	0.84[ASN][1000 genomes]
rs10865309	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12475168	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12613375	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12614932	0.82[ASN][1000 genomes]
rs12618115	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12619538	0.96[AMR][1000 genomes];0.92[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	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17049712	0.86[ASN][1000 genomes]
rs17615494	0.85[ASN][1000 genomes]
rs1796435	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2540324	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2540325	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708146	0.85[ASN][1000 genomes]
rs55767040	0.85[ASN][1000 genomes]
rs62142340	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62142342	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs62144560	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6741951	0.86[ASN][1000 genomes]
rs6747219	0.84[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17049722	VRK2	cis	parietal	SCAN
rs17049722	TMEM17	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58974800-58977000	Weak transcription	Fetal Brain Female	brain
2	chr2:58975600-58977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:58976800-58977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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