Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166755813..166756563-chr8:90281820..90282340,2	NB4	blood:

Variant related genes	Relation type
ENSG00000198818	Chromatin interaction

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

rs_ID	r²[population]
rs12544420	0.80[ASN][1000 genomes]
rs12674987	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12676723	0.89[ASN][1000 genomes]
rs12678031	0.88[EUR][1000 genomes]
rs12680830	0.80[ASN][1000 genomes]
rs12681083	0.88[EUR][1000 genomes]
rs13261143	0.88[EUR][1000 genomes]
rs1479907	0.80[ASN][1000 genomes]
rs1483369	0.83[AMR][1000 genomes]
rs1483370	0.88[EUR][1000 genomes]
rs1483371	0.88[EUR][1000 genomes]
rs16892784	0.88[EUR][1000 genomes]
rs16893577	0.80[ASN][1000 genomes]
rs16893581	0.80[ASN][1000 genomes]
rs2167310	0.80[ASN][1000 genomes]
rs4427216	0.88[EUR][1000 genomes]
rs59776336	0.80[ASN][1000 genomes]
rs62534963	0.88[EUR][1000 genomes]
rs6988132	0.88[EUR][1000 genomes]
rs6999851	0.80[ASN][1000 genomes]
rs7006831	0.88[EUR][1000 genomes]
rs7013541	0.88[EUR][1000 genomes]
rs73290130	0.88[EUR][1000 genomes]
rs7817834	0.80[ASN][1000 genomes]
rs9642853	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1024956	chr8:90104423-90459539	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv539671	chr8:90104423-90459539	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1032886	chr8:90253748-90398240	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90281800-90295200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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