Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86563088..86566107-chr2:86566785..86569246,3	K562	blood:

Variant related genes	Relation type
ENSG00000068615	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10169091	0.88[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs10178917	0.85[EUR][1000 genomes]
rs10180036	0.81[JPT][hapmap]
rs10865481	0.85[CEU][hapmap]
rs12471787	0.81[CEU][hapmap];0.88[MEX][hapmap];0.87[AMR][1000 genomes]
rs12617075	0.89[CEU][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs12714181	0.88[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12714186	0.81[JPT][hapmap]
rs13005269	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13035266	0.82[EUR][1000 genomes]
rs13383096	0.80[EUR][1000 genomes]
rs1559514	0.81[MKK][hapmap]
rs1863050	0.81[MKK][hapmap]
rs1863056	0.81[MKK][hapmap]
rs2042502	0.81[MKK][hapmap]
rs2113607	0.94[JPT][hapmap]
rs2292887	0.81[JPT][hapmap]
rs4430958	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4832263	0.85[MKK][hapmap]
rs4832278	0.82[JPT][hapmap]
rs4832279	0.82[EUR][1000 genomes]
rs4832280	0.82[EUR][1000 genomes]
rs4832282	0.89[CEU][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs6710124	0.81[CEU][hapmap]
rs718292	0.81[MKK][hapmap]
rs908791	0.82[EUR][1000 genomes]
rs958561	0.81[JPT][hapmap]

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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs766285	VPS24	Cis_1M	lymphoblastoid	RTeQTL
rs766285	RNF103	cis	cerebellum	SCAN
rs766285	POLR1A	cis	cerebellum	SCAN
rs766285	MRPL35	cis	parietal	SCAN
rs766285	IMMT	cis	cerebellum	SCAN
rs766285	RMND5A	cis	cerebellum	SCAN
rs766285	VPS24	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86566200-86567600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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