Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr7:39042448-39042694	HepG2	liver:	n/a	chr7:39042535-39042550 chr7:39042536-39042547 chr7:39042535-39042546 chr7:39042535-39042546 chr7:39042534-39042548
2	MAFF	chr7:39042406-39042680	K562	blood:	n/a	chr7:39042533-39042551
3	MAFF	chr7:39042403-39042694	HepG2	liver:	n/a	chr7:39042533-39042551
4	MAFK	chr7:39042484-39042658	IMR90	lung:	n/a	chr7:39042535-39042550 chr7:39042536-39042547 chr7:39042535-39042546 chr7:39042535-39042546 chr7:39042534-39042548
5	MAFK	chr7:39042399-39042714	HepG2	liver:	n/a	chr7:39042535-39042550 chr7:39042536-39042547 chr7:39042535-39042546 chr7:39042535-39042546 chr7:39042534-39042548

Variant related genes	Relation type
POU6F2	TF binding region

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10224345	1.00[CHB][hapmap]
rs10235824	1.00[CHB][hapmap]
rs10254999	1.00[CHB][hapmap]
rs10269214	1.00[CHB][hapmap]
rs10277485	1.00[CHB][hapmap]
rs10480173	1.00[CHB][hapmap]
rs1229026	0.84[EUR][1000 genomes]
rs1229027	0.82[EUR][1000 genomes]
rs1229028	0.82[EUR][1000 genomes]
rs1229029	0.83[EUR][1000 genomes]
rs1229057	1.00[CHB][hapmap]
rs1405987	1.00[CHB][hapmap]
rs1525790	1.00[CHB][hapmap]
rs1525796	1.00[CHB][hapmap]
rs1527951	1.00[CHB][hapmap]
rs1527953	1.00[CHB][hapmap]
rs1527957	1.00[CHB][hapmap]
rs1534415	1.00[CHB][hapmap]
rs1950001	1.00[CHB][hapmap]
rs2140910	1.00[CHB][hapmap]
rs2893570	1.00[CHB][hapmap]
rs4452709	1.00[CHB][hapmap]
rs4499996	1.00[CHB][hapmap]
rs4499997	1.00[CHB][hapmap]
rs4720310	1.00[CHB][hapmap]
rs4723826	1.00[CHB][hapmap]
rs6955794	1.00[CHB][hapmap]
rs6971923	1.00[CHB][hapmap]
rs6976988	1.00[CHB][hapmap]
rs702820	1.00[CHB][hapmap]
rs7787883	1.00[CHB][hapmap]
rs859515	0.82[EUR][1000 genomes]
rs859516	0.84[EUR][1000 genomes]
rs859518	0.84[EUR][1000 genomes]
rs859531	0.83[EUR][1000 genomes]
rs859549	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs859551	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs859552	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs859553	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859554	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9987012	1.00[CHB][hapmap]

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	nsv830967	chr7:38913837-39069253	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1024142	chr7:38978728-39300444	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv887967	chr7:39009307-39090698	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3342669	chr7:39039327-39043525	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39040800-39044800	Weak transcription	Brain Substantia Nigra	brain

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