Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:60350480-60350630	GM12868	blood:	n/a	n/a

Variant related genes	Relation type
MESTP2	TF binding region

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10450962	0.80[EUR][1000 genomes]
rs10519023	1.00[EUR][1000 genomes]
rs10851670	0.93[EUR][1000 genomes]
rs1559773	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1648246	1.00[EUR][1000 genomes]
rs1680231	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16942049	1.00[EUR][1000 genomes]
rs16942061	1.00[EUR][1000 genomes]
rs16942101	0.80[EUR][1000 genomes]
rs16942152	1.00[GIH][hapmap]
rs16942154	1.00[GIH][hapmap]
rs16942155	1.00[GIH][hapmap]
rs16942157	1.00[GIH][hapmap]
rs16942159	1.00[GIH][hapmap]
rs2414658	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2554006	0.88[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2899653	1.00[EUR][1000 genomes]
rs2899654	1.00[EUR][1000 genomes]
rs335801	0.80[EUR][1000 genomes]
rs335810	0.80[EUR][1000 genomes]
rs57020611	1.00[EUR][1000 genomes]
rs59280158	1.00[EUR][1000 genomes]
rs61628415	1.00[EUR][1000 genomes]
rs7171231	0.93[EUR][1000 genomes]
rs73427232	0.93[EUR][1000 genomes]
rs8023442	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs986694	0.93[EUR][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	nsv904280	chr15:60042722-60524025	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833028	chr15:60227565-60418112	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1043235	chr15:60318001-60350625	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1044105	chr15:60318001-60354519	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1045741	chr15:60323323-60350625	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:60347200-60351200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:60347200-60351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:60347200-60351200	Weak transcription	NHEK	skin
4	chr15:60348200-60351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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