Variant report

Variant	rs269116
Chromosome Location	chr1:112577639-112577640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11102378	0.83[AMR][1000 genomes]
rs187918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs190584	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs269123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs269124	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2819207	0.83[AMR][1000 genomes]
rs3860209	0.83[AMR][1000 genomes]
rs61706163	0.83[AMR][1000 genomes]
rs659425	0.86[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542651	0.83[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	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

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112569600-112578000	Enhancers	Fetal Stomach	stomach
2	chr1:112576600-112577800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:112577400-112583200	Weak transcription	Colon Smooth Muscle	Colon

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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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