Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr12:60485022-60485286	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60483685..60486608-chr12:60491764..60494624,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257294	TF binding region

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

rs_ID	r²[population]
rs11173317	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12296463	1.00[AMR][1000 genomes]
rs12297378	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299963	0.93[AMR][1000 genomes]
rs12303842	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12303899	0.87[AMR][1000 genomes]
rs12306142	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12307563	1.00[AMR][1000 genomes]
rs12308835	0.93[AMR][1000 genomes]
rs12309540	0.93[AMR][1000 genomes]
rs12313647	0.84[AFR][1000 genomes]
rs12317243	0.93[AMR][1000 genomes]
rs12321091	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321390	0.93[AMR][1000 genomes]
rs12322592	0.93[AMR][1000 genomes]
rs1493326	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17123427	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57945859	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61357417	0.93[AMR][1000 genomes]
rs7133571	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7300765	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7309556	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7310877	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364859	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1048137	chr12:60432594-60515455	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv427913	chr12:60462443-60569344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:60478000-60489000	Weak transcription	Pancreas	Pancrea
2	chr12:60478600-60492800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

Quick Search: