Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr12:40558409-40558614	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000223914	TF binding region

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs17489344	1.00[AMR][1000 genomes]
rs17489764	1.00[AMR][1000 genomes]
rs17490062	1.00[AMR][1000 genomes]
rs17490397	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17518532	1.00[AMR][1000 genomes]
rs17518910	1.00[AMR][1000 genomes]
rs2252434	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs2256286	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2256408	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs2638273	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs2708429	1.00[AMR][1000 genomes]
rs2708433	1.00[AMR][1000 genomes]
rs2708439	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs2708440	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2708444	0.84[YRI][hapmap]
rs2723256	1.00[AMR][1000 genomes]
rs2723266	1.00[AMR][1000 genomes]
rs2723267	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs2723272	0.84[YRI][hapmap]
rs2723273	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs28370694	1.00[AMR][1000 genomes]
rs28370705	1.00[AMR][1000 genomes]
rs28370706	1.00[AMR][1000 genomes]
rs28370714	1.00[AMR][1000 genomes]
rs28370720	1.00[AMR][1000 genomes]
rs28370724	1.00[AMR][1000 genomes]
rs28370743	1.00[AMR][1000 genomes]
rs28370761	1.00[AMR][1000 genomes]
rs28370790	1.00[AMR][1000 genomes]
rs28370793	1.00[AMR][1000 genomes]
rs28740214	1.00[AMR][1000 genomes]
rs7978216	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	esv3398206	chr12:40556364-40581392	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40547200-40558600	Weak transcription	Liver	Liver
2	chr12:40557400-40564600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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