Variant report

Variant	rs17263033
Chromosome Location	chr1:71775920-71775921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17090819	0.86[AFR][1000 genomes]
rs17091059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091111	0.81[AFR][1000 genomes]
rs17091137	1.00[AMR][1000 genomes]
rs17091154	1.00[AMR][1000 genomes]
rs17097564	1.00[AMR][1000 genomes]
rs2066372	0.87[AFR][1000 genomes]
rs57007191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58577333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60585297	1.00[AFR][1000 genomes];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	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1005726	chr1:71701840-71953242	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1848377	chr1:71718838-71964514	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv531880	chr1:71724941-71964501	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv830159	chr1:71772308-71909860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71770600-71781200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:71773600-71777000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:71773600-71777000	Weak transcription	NHDF-Ad	bronchial
4	chr1:71773600-71778000	Weak transcription	HUVEC	blood vessel
5	chr1:71773800-71776800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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