Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr12:40951816-40952154	HepG2	liver:	n/a	chr12:40951963-40951979 chr12:40951963-40951974 chr12:40951963-40951978 chr12:40951963-40951974 chr12:40952001-40952012 chr12:40952000-40952014 chr12:40951962-40951976 chr12:40952001-40952016 chr12:40952001-40952017 chr12:40952001-40952012

Variant related genes	Relation type
RNU6-713P	TF binding region

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11564145	1.00[CEU][hapmap]
rs11564253	1.00[CEU][hapmap]
rs11564255	1.00[CEU][hapmap]
rs11564256	1.00[CEU][hapmap]
rs11613829	1.00[YRI][hapmap]
rs12422390	1.00[CEU][hapmap]
rs12423986	1.00[CEU][hapmap]
rs12424424	1.00[CEU][hapmap]
rs12425677	1.00[CEU][hapmap]
rs12425678	1.00[CEU][hapmap]
rs12426903	1.00[CEU][hapmap]
rs12427134	1.00[CEU][hapmap]
rs1365768	1.00[CEU][hapmap]
rs1365769	1.00[CEU][hapmap]
rs17444646	1.00[CEU][hapmap]
rs17444667	1.00[CEU][hapmap]
rs17444688	1.00[CEU][hapmap]
rs17444744	1.00[CEU][hapmap]
rs17444751	1.00[CEU][hapmap]
rs17445098	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17466626	1.00[CEU][hapmap]
rs17466907	1.00[CEU][hapmap]
rs17466969	1.00[CEU][hapmap]
rs17467039	1.00[CEU][hapmap]
rs17467081	1.00[CEU][hapmap]
rs17467088	1.00[CEU][hapmap]
rs17467102	1.00[CEU][hapmap]
rs17467116	1.00[CEU][hapmap]
rs17467137	1.00[CEU][hapmap]
rs17467144	1.00[CEU][hapmap]
rs17492152	1.00[CEU][hapmap]
rs2017917	1.00[CEU][hapmap]
rs3751170	1.00[EUR][1000 genomes]
rs3751171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3789329	1.00[CEU][hapmap]
rs3899331	1.00[CEU][hapmap]
rs4768248	1.00[CEU][hapmap]
rs4768249	1.00[CEU][hapmap]
rs4768251	1.00[CEU][hapmap]
rs4768254	1.00[CEU][hapmap]
rs61736778	0.81[EUR][1000 genomes]
rs7485401	1.00[CEU][hapmap]
rs7487209	1.00[CEU][hapmap]

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	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv832378	chr12:40943111-41132305	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv683	chr12:40951473-40996258	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40947400-40967800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40951800-40952200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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