Variant report

Variant	rs12550611
Chromosome Location	chr8:125956660-125956661
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No data

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10505452	0.91[JPT][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13268726	0.82[AMR][1000 genomes]
rs13272317	0.83[AMR][1000 genomes]
rs1427084	0.81[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16900167	0.81[JPT][hapmap];0.83[AMR][1000 genomes]
rs1834717	0.85[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2382997	0.82[AMR][1000 genomes]
rs2590671	0.82[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2590673	0.84[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2590675	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34132029	0.82[AMR][1000 genomes]
rs35197498	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs68032922	0.83[AMR][1000 genomes]

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

No data

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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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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