Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:179722123..179723923-chr3:179725732..179727617,2	MCF-7	breast:
2	chr3:179721672..179723580-chr3:179725340..179727242,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PEX5L-1	chr3:179725969-179727107	ucscGeneNc_uc003fjb_1

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11713683	1.00[ASN][1000 genomes]
rs13324196	0.80[ASN][1000 genomes]
rs13325206	0.80[ASN][1000 genomes]
rs1522115	0.97[ASN][1000 genomes]
rs1851351	0.85[ASN][1000 genomes]
rs2056598	0.82[ASN][1000 genomes]
rs2339932	0.85[ASN][1000 genomes]
rs56397887	0.80[ASN][1000 genomes]
rs57729381	0.96[ASN][1000 genomes]
rs61623675	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6443685	0.99[ASN][1000 genomes]
rs6443687	0.80[ASN][1000 genomes]
rs6443688	0.80[ASN][1000 genomes]
rs6787707	0.85[ASN][1000 genomes]
rs6800148	0.99[ASN][1000 genomes]
rs73883446	0.87[ASN][1000 genomes]
rs73883462	0.97[ASN][1000 genomes]
rs73883468	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73883469	0.96[ASN][1000 genomes]
rs73883479	0.80[ASN][1000 genomes]
rs7614706	0.85[ASN][1000 genomes]
rs7615924	0.96[ASN][1000 genomes]
rs939824	0.80[ASN][1000 genomes]
rs939825	0.80[ASN][1000 genomes]
rs940522	0.99[ASN][1000 genomes]
rs9809603	0.96[ASN][1000 genomes]
rs9816641	0.86[ASN][1000 genomes]
rs9823631	0.99[ASN][1000 genomes]
rs9828621	0.87[AMR][1000 genomes]
rs9833738	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9858631	0.85[ASN][1000 genomes]
rs9870941	0.99[ASN][1000 genomes]
rs9881655	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv829807	chr3:179527567-179745153	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv829808	chr3:179574614-179754321	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv534210	chr3:179666123-179899347	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1000756	chr3:179672703-179827373	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179725200-179727000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:179725800-179727000	ZNF genes & repeats	Dnd41	blood
3	chr3:179726000-179726400	ZNF genes & repeats	Brain Hippocampus Middle	brain
4	chr3:179726000-179754200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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