Variant report

Variant	rs61472153
Chromosome Location	chr4:128427920-128427921
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:20)

rs_ID	r²[population]
rs12506317	0.86[AFR][1000 genomes]
rs12513073	0.86[AFR][1000 genomes]
rs12513077	0.86[AFR][1000 genomes]
rs17012483	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56077955	0.86[AFR][1000 genomes]
rs57169286	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57283642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60381150	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61111441	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61143634	0.86[AFR][1000 genomes]
rs61366600	1.00[EUR][1000 genomes]
rs61683932	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73846563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846572	1.00[EUR][1000 genomes]
rs73846575	1.00[EUR][1000 genomes]
rs73846588	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73846593	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73846594	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73846598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1029214	chr4:128292215-128683123	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537247	chr4:128292215-128683123	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1015564	chr4:128394657-128506962	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1017325	chr4:128408370-128509276	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv595387	chr4:128410916-128523964	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv879916	chr4:128422400-128694288	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr4:128422800-128428600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:128424800-128438400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:128425400-128428400	Enhancers	Fetal Heart	heart
4	chr4:128426800-128428200	Enhancers	Fetal Lung	lung
5	chr4:128426800-128429800	Weak transcription	NHDF-Ad	bronchial
6	chr4:128426800-128430600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:128426800-128430600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:128426800-128430600	Weak transcription	NHLF	lung
9	chr4:128427600-128429600	Weak transcription	Left Ventricle	heart

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