Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:68565327..68567735-chr4:68648210..68650966,2	K562	blood:

Variant related genes	Relation type
ENSG00000248049	Chromatin interaction
ENSG00000033178	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1020177	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031001	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440736	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440737	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255844	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582357	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582358	0.96[ASN][1000 genomes]
rs2582359	0.93[ASN][1000 genomes]
rs2582360	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582362	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627243	0.87[EUR][1000 genomes]
rs2627244	0.81[EUR][1000 genomes]
rs2627245	0.81[EUR][1000 genomes]
rs2630484	0.93[ASN][1000 genomes]
rs2630485	0.81[EUR][1000 genomes]
rs2630486	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630487	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630491	0.87[EUR][1000 genomes]
rs2711135	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711136	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2711156	0.81[EUR][1000 genomes]
rs2711159	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879214	chr4:68389841-68789778	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv829960	chr4:68649237-68809629	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:68645400-68650800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:68646000-68651400	Weak transcription	NHEK	skin
3	chr4:68646000-68651600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:68646400-68651400	Weak transcription	HMEC	breast
5	chr4:68648600-68654200	Weak transcription	Primary T cells from cord blood	blood
6	chr4:68650400-68651200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:68650400-68652000	Enhancers	Fetal Lung	lung
8	chr4:68650400-68652200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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