Variant report

Variant	rs269083
Chromosome Location	chr1:112600596-112600597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs166556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs189724	1.00[AMR][1000 genomes]
rs192395	1.00[AMR][1000 genomes]
rs269082	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs269089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55712770	1.00[AMR][1000 genomes]
rs59715714	1.00[AMR][1000 genomes]
rs60401722	1.00[AMR][1000 genomes]
rs74109732	1.00[AMR][1000 genomes]
rs74109733	1.00[AMR][1000 genomes]
rs9429619	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831048	chr1:112459697-112680279	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv831059	chr1:112569062-112724725	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831070	chr1:112594658-112792539	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:112596400-112603400	Weak transcription	Right Atrium	heart
2	chr1:112596600-112600600	Enhancers	Left Ventricle	heart
3	chr1:112597400-112607000	Weak transcription	Spleen	Spleen
4	chr1:112599400-112604000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:112599600-112600600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:112599600-112603800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:112599800-112601200	Enhancers	Fetal Heart	heart
8	chr1:112600200-112600600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:112600200-112603600	Enhancers	NHEK	skin
10	chr1:112600400-112600800	Weak transcription	Right Ventricle	heart
11	chr1:112600400-112601200	Enhancers	Esophagus	oesophagus
12	chr1:112600400-112605200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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