Variant report

Variant	rs2191143
Chromosome Location	chr17:66657062-66657063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs61640869	1.00[AMR][1000 genomes]
rs7218728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73353024	1.00[AMR][1000 genomes]
rs73353027	1.00[AMR][1000 genomes]
rs73355244	1.00[AMR][1000 genomes]
rs73355247	1.00[AMR][1000 genomes]
rs73355249	1.00[AMR][1000 genomes]
rs73355254	1.00[AMR][1000 genomes]
rs73355255	1.00[AMR][1000 genomes]
rs73355256	1.00[AMR][1000 genomes]
rs73355257	1.00[AMR][1000 genomes]
rs8069435	1.00[AMR][1000 genomes]
rs8073015	1.00[AMR][1000 genomes]
rs9914332	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833524	chr17:66524030-66705194	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv521432	chr17:66652594-66660827	Active TSS Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66654600-66658000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:66656000-66659200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr17:66656000-66661600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:66656200-66659200	Enhancers	Liver	Liver
5	chr17:66656600-66657600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr17:66656800-66658800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr17:66657000-66659200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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