Variant report

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125827545..125829376-chr8:125954990..125957795,2	K562	blood:
2	chr8:125954639..125958551-chr8:125984669..125987266,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF572-1	chr8:125955512-125957988	ENSG00000249816
2	lnc-ZNF572-1	chr8:125956421-125957988	ENSG00000249816
3	lnc-ZNF572-1	chr8:125955738-125957988	NONHSAT128939
4	lnc-ZNF572-1	chr8:125955512-125957988	XLOC_006916

No data

Variant related genes	Relation type
ENSG00000180938	Chromatin interaction
ENSG00000255491	Chromatin interaction

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2382999	0.88[JPT][hapmap]
rs2555724	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2555725	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2590665	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2725878	1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28455785	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28558480	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28870400	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3866472	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3909714	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3909715	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4006739	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4099573	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6651232	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2590667	ATAD2	cis	cerebellum	SCAN
rs2590667	WDR67	cis	parietal	SCAN
rs2590667	LINC00964	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125950000-125958200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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