Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:173178600-173178750	HepG2	liver:	n/a	chr2:173178612-173178625

Variant related genes	Relation type
ENSG00000232555	TF binding region

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

rs_ID	r²[population]
rs10201605	0.83[ASN][1000 genomes]
rs12996815	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4246620	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4290625	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4350710	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4395225	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4496306	0.80[ASN][1000 genomes]
rs4972484	0.82[ASN][1000 genomes]
rs4972791	0.91[ASN][1000 genomes]
rs6433351	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6714434	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6715062	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6717736	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6723279	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6728360	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6757748	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7425380	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7577264	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7578145	0.80[ASN][1000 genomes]
rs7594561	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3034	chr2:173160295-173200113	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173173000-173181600	Weak transcription	Right Atrium	heart
2	chr2:173176200-173178800	Enhancers	Fetal Muscle Leg	muscle
3	chr2:173178000-173178800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:173178000-173178800	Enhancers	Left Ventricle	heart
5	chr2:173178200-173178800	Enhancers	Fetal Thymus	thymus
6	chr2:173178600-173178800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:173178600-173178800	Enhancers	Pancreas	Pancrea

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