Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr2:169771726-169773243	K562	blood:	n/a	n/a

Variant related genes	Relation type
SPC25	TF binding region

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10497347	0.82[ASN][1000 genomes]
rs13389076	0.84[ASN][1000 genomes]
rs13419326	0.82[ASN][1000 genomes]
rs16856187	0.82[ASN][1000 genomes]
rs16856247	0.80[ASN][1000 genomes]
rs28819151	0.84[ASN][1000 genomes]
rs2947987	0.88[ASN][1000 genomes]
rs4144857	0.82[ASN][1000 genomes]
rs4144858	0.82[ASN][1000 genomes]
rs472614	0.85[ASN][1000 genomes]
rs475612	0.85[EUR][1000 genomes]
rs484066	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs485094	0.87[EUR][1000 genomes]
rs486981	0.87[EUR][1000 genomes]
rs494874	0.86[EUR][1000 genomes]
rs495714	0.87[ASN][1000 genomes]
rs496550	0.87[ASN][1000 genomes]
rs497692	0.87[ASN][1000 genomes]
rs502570	0.85[EUR][1000 genomes]
rs503931	0.86[ASN][1000 genomes]
rs508506	0.86[EUR][1000 genomes]
rs518598	0.86[EUR][1000 genomes]
rs519035	0.87[ASN][1000 genomes]
rs519887	0.87[ASN][1000 genomes]
rs527150	0.87[ASN][1000 genomes]
rs537183	0.85[EUR][1000 genomes]
rs551754	0.85[ASN][1000 genomes]
rs552976	0.86[EUR][1000 genomes]
rs555975	0.84[ASN][1000 genomes]
rs557462	0.85[EUR][1000 genomes]
rs563694	0.85[EUR][1000 genomes]
rs565412	0.80[ASN][1000 genomes]
rs566879	0.87[EUR][1000 genomes]
rs569805	0.87[EUR][1000 genomes]
rs569829	0.86[EUR][1000 genomes]
rs579060	0.87[EUR][1000 genomes]
rs579275	0.87[ASN][1000 genomes]
rs580670	0.85[EUR][1000 genomes]
rs60415045	0.83[ASN][1000 genomes]
rs73972707	0.84[ASN][1000 genomes]
rs853787	0.84[EUR][1000 genomes]
rs853789	0.84[EUR][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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv459943	chr2:169756930-169799010	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv583600	chr2:169756930-169799010	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169769400-169772200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:169769800-169773400	Enhancers	Fetal Brain Female	brain
3	chr2:169770000-169772200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:169770400-169772000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:169770600-169778600	Weak transcription	Liver	Liver
6	chr2:169771600-169773200	Enhancers	Brain Germinal Matrix	brain

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