Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150404252..150405212-chr6:150654023..150654852,2	MCF-7	breast:
2	chr6:150388542..150390431-chr6:150401978..150404443,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131019	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1853659	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2010440	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4038366	0.88[EUR][1000 genomes]
rs4869814	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4870250	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4870258	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4870272	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs599319	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs610025	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs610039	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs631796	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6557277	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6557278	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs669009	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6933841	0.81[EUR][1000 genomes]
rs6935471	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7747128	0.81[EUR][1000 genomes]
rs7760655	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs789830	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9322241	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs945194	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1026236	chr6:150360882-150408946	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv886770	chr6:150395424-150499889	Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150391200-150410000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:150400800-150408400	Weak transcription	NHEK	skin
3	chr6:150401000-150408200	Weak transcription	HMEC	breast
4	chr6:150401000-150408400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:150401000-150408400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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