Variant report

Variant	rs3116423
Chromosome Location	chr1:84878380-84878381
allele	A/G
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:22)

rs_ID	r²[population]
rs1246157	0.83[AMR][1000 genomes]
rs1246384	1.00[AMR][1000 genomes]
rs1246385	1.00[AMR][1000 genomes]
rs1911158	1.00[AMR][1000 genomes]
rs2892837	1.00[AMR][1000 genomes]
rs2911601	1.00[AMR][1000 genomes]
rs2943661	1.00[AMR][1000 genomes]
rs2945139	1.00[AMR][1000 genomes]
rs2945144	1.00[AMR][1000 genomes]
rs2994936	1.00[AMR][1000 genomes]
rs2994951	1.00[AMR][1000 genomes]
rs2994956	1.00[AMR][1000 genomes]
rs312399	1.00[AMR][1000 genomes]
rs4907069	0.83[AMR][1000 genomes]
rs4907071	1.00[AMR][1000 genomes]
rs6576703	0.83[AMR][1000 genomes]
rs6669435	0.83[AMR][1000 genomes]
rs6681199	0.83[AMR][1000 genomes]
rs937841	1.00[AMR][1000 genomes]
rs9432822	1.00[AMR][1000 genomes]
rs9432823	1.00[AMR][1000 genomes]
rs9433226	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84877000-84880200	Weak transcription	HUVEC	blood vessel
2	chr1:84878000-84878600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:84878000-84878600	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr1:84878000-84878600	Flanking Active TSS	NH-A	brain
5	chr1:84878200-84878400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:84878200-84878600	Enhancers	Psoas Muscle	Psoas
7	chr1:84878200-84878600	Active TSS	Osteobl	bone
8	chr1:84878200-84878800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:84878200-84878800	Enhancers	Aorta	Aorta
10	chr1:84878200-84879000	Enhancers	Skeletal Muscle Male	skeletal muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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