Variant report

Variant	rs56131080
Chromosome Location	chr4:86512833-86512834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10021031	1.00[AMR][1000 genomes]
rs55856244	1.00[AMR][1000 genomes]
rs55856982	1.00[AMR][1000 genomes]
rs56777230	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56937766	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57480554	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58557354	1.00[AMR][1000 genomes]
rs58758405	1.00[AMR][1000 genomes]
rs59039102	1.00[AMR][1000 genomes]
rs59598716	1.00[AMR][1000 genomes]
rs6850901	1.00[AMR][1000 genomes]
rs72979954	1.00[AMR][1000 genomes]
rs72982052	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72982057	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72982061	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73832882	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73833364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73833367	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73833368	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73833374	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835209	1.00[AMR][1000 genomes]
rs73835210	1.00[AMR][1000 genomes]
rs73835228	1.00[AMR][1000 genomes]
rs73835229	1.00[AMR][1000 genomes]
rs73835233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835513	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
6	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
7	esv1803586	chr4:86503425-86516352	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86487200-86521200	Weak transcription	HSMMtube	muscle
2	chr4:86492600-86517000	Weak transcription	Adipose Nuclei	Adipose
3	chr4:86495000-86516200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:86497400-86516800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:86502000-86517200	Weak transcription	HSMM	muscle
6	chr4:86509600-86516000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:86512200-86513200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:86512200-86513400	Enhancers	NHDF-Ad	bronchial
9	chr4:86512400-86513000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:86512400-86513000	Strong transcription	Primary B cells from cord blood	blood
11	chr4:86512400-86513000	Enhancers	Stomach Mucosa	stomach
12	chr4:86512400-86513200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:86512400-86513400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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