Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:147400723..147405346-chr6:147522959..147527467,8	MCF-7	breast:
2	chr6:147401647..147404740-chr6:147523703..147526374,4	MCF-7	breast:
3	chr6:147402392..147404451-chr6:147410576..147413761,3	K562	blood:
4	chr6:147399639..147401369-chr6:147401434..147403188,2	MCF-7	breast:
5	chr6:147391002..147395270-chr6:147401582..147403609,4	K562	blood:

Variant related genes	Relation type
ENSG00000164506	Chromatin interaction
ENSG00000233452	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1105441	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12209736	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2328802	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3734477	0.84[EUR][1000 genomes]
rs6570788	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6570789	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6901138	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6910250	0.80[AMR][1000 genomes]
rs6930740	0.83[AMR][1000 genomes]
rs6938185	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7749744	0.82[EUR][1000 genomes]
rs7751770	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7767185	0.82[EUR][1000 genomes]
rs7769459	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9322088	0.80[AMR][1000 genomes]
rs9322089	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9322090	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9377044	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9386178	0.83[EUR][1000 genomes]
rs9399595	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9403843	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9403845	0.84[EUR][1000 genomes]
rs9485141	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9497690	0.86[AMR][1000 genomes];0.84[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	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886751	chr6:147354092-147490398	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147398800-147403800	Weak transcription	Gastric	stomach
2	chr6:147401400-147403000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:147401400-147403200	Enhancers	NHEK	skin
4	chr6:147402000-147403800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:147402200-147403200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:147402200-147403600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:147402200-147404400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:147402400-147403400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:147402600-147412000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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