Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10176971	0.95[ASN][1000 genomes]
rs10209368	0.94[ASN][1000 genomes]
rs12470429	0.94[ASN][1000 genomes]
rs12470431	0.89[EUR][1000 genomes]
rs13031075	0.89[EUR][1000 genomes]
rs1346236	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1365478	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1365479	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2114433	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2162381	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2288300	0.88[EUR][1000 genomes]
rs2288301	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4372888	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4508583	0.92[ASN][1000 genomes]
rs4535030	0.92[ASN][1000 genomes]
rs4671090	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4671568	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4671569	0.94[ASN][1000 genomes]
rs4671570	0.94[ASN][1000 genomes]
rs7596737	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	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64595600-64627800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:64610600-64627200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:64614000-64618800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:64614400-64618400	Weak transcription	Stomach Mucosa	stomach
5	chr2:64614400-64628200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:64614600-64627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:64615200-64619000	Weak transcription	Right Atrium	heart
8	chr2:64617000-64617800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr2:64617200-64626600	Weak transcription	Pancreas	Pancrea

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