Variant report

Variant	rs11948307
Chromosome Location	chr5:114196390-114196391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11952733	1.00[AMR][1000 genomes]
rs11960032	1.00[AMR][1000 genomes]
rs13174596	1.00[AMR][1000 genomes]
rs55790041	1.00[AMR][1000 genomes]
rs56021445	1.00[AMR][1000 genomes]
rs56114254	1.00[AMR][1000 genomes]
rs56198227	1.00[AMR][1000 genomes]
rs56239364	1.00[AMR][1000 genomes]
rs57056024	1.00[AMR][1000 genomes]
rs57306767	1.00[AMR][1000 genomes]
rs57956079	1.00[AMR][1000 genomes]
rs58584685	1.00[AMR][1000 genomes]
rs60060702	1.00[AMR][1000 genomes]
rs6895615	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73779991	1.00[AMR][1000 genomes]
rs73779993	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73779995	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73782604	1.00[AMR][1000 genomes]
rs73782606	1.00[AMR][1000 genomes]
rs73782631	1.00[AMR][1000 genomes]
rs73782633	1.00[AMR][1000 genomes]
rs73782639	1.00[AMR][1000 genomes]
rs73782641	1.00[AMR][1000 genomes]
rs7700745	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7721116	0.85[AFR][1000 genomes];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	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020798	chr5:113821828-114392727	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537867	chr5:113821828-114392727	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114193000-114196600	Enhancers	Fetal Brain Male	brain
2	chr5:114195200-114200600	Weak transcription	Fetal Muscle Leg	muscle

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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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