Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr12:55983916-55984248	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:55983719-55984497	H1-hESC	embryonic stem cell:	n/a	n/a
3	HEY1	chr12:55983990-55984154	K562	blood:	n/a	n/a
4	FOXA2	chr12:55983994-55984519	A549	lung:	n/a	n/a
5	FOXA2	chr12:55984053-55984326	A549	lung:	n/a	n/a
6	POLR2A	chr12:55983981-55984190	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000258763	TF binding region

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10747758	0.87[EUR][1000 genomes]
rs10783760	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10876814	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10876818	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11171573	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11171574	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11171579	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11171588	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11171589	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11171590	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11171592	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1896035	0.87[EUR][1000 genomes]
rs1896037	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4759162	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4759163	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4759173	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7134292	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7137741	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7138577	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7299562	0.85[EUR][1000 genomes]
rs7305194	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559001	chr12:55507465-56057708	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv832422	chr12:55832210-56001052	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv973201	chr12:55974291-56000681	Weak transcription Active TSS Strong transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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