Variant report

Variant	rs4140653
Chromosome Location	chr1:171061989-171061990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1157459	0.83[EUR][1000 genomes]
rs12086786	0.83[EUR][1000 genomes]
rs12089338	0.83[EUR][1000 genomes]
rs16864094	0.83[EUR][1000 genomes]
rs1983550	0.86[EUR][1000 genomes]
rs2235194	0.83[EUR][1000 genomes]
rs2281002	0.83[EUR][1000 genomes]
rs2281004	0.83[EUR][1000 genomes]
rs28363533	0.86[EUR][1000 genomes]
rs28363535	0.86[EUR][1000 genomes]
rs28363557	0.83[EUR][1000 genomes]
rs28363560	0.86[EUR][1000 genomes]
rs28363597	0.83[EUR][1000 genomes]
rs28745581	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28745584	0.88[ASN][1000 genomes]
rs56809838	0.83[EUR][1000 genomes]
rs60447684	0.83[EUR][1000 genomes]
rs66880604	0.83[EUR][1000 genomes]
rs66963071	0.86[EUR][1000 genomes]
rs67495591	0.83[EUR][1000 genomes]
rs68071659	0.83[EUR][1000 genomes]
rs72712662	0.83[EUR][1000 genomes]
rs9970391	0.83[EUR][1000 genomes]
rs9970495	0.83[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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 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	chr1:171060000-171062200	Active TSS	Liver	Liver
2	chr1:171060600-171062200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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