Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr6:165532009-165532327	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000217878	TF binding region

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1372405	0.93[ASN][1000 genomes]
rs1441898	0.82[ASN][1000 genomes]
rs1441899	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1441900	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1630789	0.92[ASN][1000 genomes]
rs1661408	0.93[ASN][1000 genomes]
rs1744518	0.93[ASN][1000 genomes]
rs1744519	0.91[ASN][1000 genomes]
rs1764061	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2583828	0.94[ASN][1000 genomes]
rs2583830	0.82[ASN][1000 genomes]
rs2583831	0.82[ASN][1000 genomes]
rs2583832	0.82[ASN][1000 genomes]
rs2675723	0.84[ASN][1000 genomes]
rs2675724	0.96[ASN][1000 genomes]
rs2675730	0.98[ASN][1000 genomes]
rs2675736	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2675737	0.96[ASN][1000 genomes]
rs2675738	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2758940	0.83[ASN][1000 genomes]
rs2758944	0.96[ASN][1000 genomes]
rs2758945	0.84[ASN][1000 genomes]
rs2758946	0.94[ASN][1000 genomes]
rs6926303	0.83[ASN][1000 genomes]
rs894240	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9365874	0.81[EUR][1000 genomes]
rs957967	0.86[ASN][1000 genomes]
rs985176	0.94[ASN][1000 genomes]
rs985177	0.94[ASN][1000 genomes]
rs987177	0.95[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	nsv886925	chr6:165319631-165705488	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv886927	chr6:165368163-165644276	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv432982	chr6:165528589-165835589	Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr6:165529400-165533600	Enhancers	HSMM	muscle
2	chr6:165530200-165533400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:165530800-165532600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:165531200-165532400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:165531600-165532800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:165531800-165532200	Weak transcription	HSMMtube	muscle

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