Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:42515854..42518647-chr3:42520665..42522893,2	MCF-7	breast:
2	chr3:42520740..42523274-chr3:42528423..42530427,2	K562	blood:
3	chr3:42518174..42522786-chr3:42527620..42534309,10	MCF-7	breast:
4	chr3:42515498..42517075-chr3:42519588..42521366,2	K562	blood:

Variant related genes	Relation type
ENSG00000114812	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17237090	1.00[ASW][hapmap]
rs342518	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs342519	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs342531	0.81[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs418252	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs419555	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs421031	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs427048	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs427845	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs435698	0.92[CEU][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs452906	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs478581	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs493215	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs568717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569417	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs589328	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs591094	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs630253	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs704973	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs704974	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][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	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv1804804	chr3:42515186-42582403	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs418736	VIPR1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42519000-42531800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:42520600-42521800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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