Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:54164489..54166885-chr6:54172521..54174692,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137251	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11751405	0.89[EUR][1000 genomes]
rs1316575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396380	0.88[EUR][1000 genomes]
rs1508633	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1605674	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17574067	0.88[EUR][1000 genomes]
rs2136136	0.88[EUR][1000 genomes]
rs2153536	0.88[EUR][1000 genomes]
rs2153537	0.88[EUR][1000 genomes]
rs2185506	0.88[EUR][1000 genomes]
rs2297981	0.89[AMR][1000 genomes]
rs2397156	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2840308	0.89[EUR][1000 genomes]
rs3756808	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4142450	0.88[EUR][1000 genomes]
rs4415156	0.92[EUR][1000 genomes]
rs4712061	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62396368	0.88[EUR][1000 genomes]
rs6458990	0.89[EUR][1000 genomes]
rs7763301	0.89[EUR][1000 genomes]
rs7763740	0.89[EUR][1000 genomes]
rs7767969	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7769117	0.89[EUR][1000 genomes]
rs7771868	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7775058	0.89[EUR][1000 genomes]
rs9349702	0.89[EUR][1000 genomes]
rs9370282	0.89[EUR][1000 genomes]
rs9370283	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9395931	0.88[AFR][1000 genomes];0.89[EUR][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	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv885888	chr6:54132353-54266032	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2762594	chr6:54159146-54168766	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs991287	TINAG	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54164600-54166200	Enhancers	NHDF-Ad	bronchial
2	chr6:54164800-54166800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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