Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112223036..112225386-chr7:112226246..112228267,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1014362	0.92[ASN][1000 genomes]
rs1234347	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1234380	0.81[ASN][1000 genomes]
rs1234381	0.81[ASN][1000 genomes]
rs2966478	0.84[ASN][1000 genomes]
rs3095022	0.91[ASN][1000 genomes]
rs3095040	0.81[AMR][1000 genomes]
rs3095055	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3111439	0.91[ASN][1000 genomes]
rs3111441	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3128400	0.91[ASN][1000 genomes]
rs3128401	0.91[ASN][1000 genomes]
rs3128402	0.94[ASN][1000 genomes]
rs3128403	0.85[ASN][1000 genomes]
rs3128404	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3128421	0.83[AMR][1000 genomes]
rs43091	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs43095	0.89[ASN][1000 genomes]
rs43096	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs728462	0.91[ASN][1000 genomes]
rs7779682	0.82[ASN][1000 genomes]
rs7787496	0.82[ASN][1000 genomes]
rs9641488	0.82[ASN][1000 genomes]
rs9641490	0.82[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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv889055	chr7:112174089-112353440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112228200-112228400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:112228200-112228400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

Quick Search: