Variant report

Variant	rs7729056
Chromosome Location	chr5:51971515-51971516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10041465	1.00[AMR][1000 genomes]
rs10042066	1.00[AMR][1000 genomes]
rs10051793	1.00[AMR][1000 genomes]
rs10054754	1.00[AMR][1000 genomes]
rs10060045	1.00[AMR][1000 genomes]
rs10063089	1.00[AMR][1000 genomes]
rs10078136	1.00[AMR][1000 genomes]
rs10471821	1.00[AMR][1000 genomes]
rs13357745	1.00[AMR][1000 genomes]
rs13360413	1.00[AMR][1000 genomes]
rs16880037	1.00[AMR][1000 genomes]
rs16880039	1.00[AMR][1000 genomes]
rs28666730	1.00[AMR][1000 genomes]
rs28701709	1.00[AMR][1000 genomes]
rs58967333	1.00[AMR][1000 genomes]
rs59337949	1.00[AMR][1000 genomes]
rs61126266	1.00[AMR][1000 genomes]
rs6450077	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9291996	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752072	chr5:51649222-51972277	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:51970600-51971600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:51970600-51971600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr5:51971000-51971600	Enhancers	NH-A	brain
4	chr5:51971000-51971800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:51971000-51971800	Enhancers	HSMM	muscle
6	chr5:51971000-51972600	Enhancers	NHLF	lung
7	chr5:51971200-51971600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:51971400-51971800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:51971400-51971800	Enhancers	Osteobl	bone
10	chr5:51971400-51972400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:51971400-51972400	Enhancers	Hela-S3	cervix
12	chr5:51971400-51972600	Enhancers	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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