Variant report

Variant	rs405461
Chromosome Location	chr19:40566677-40566678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs163212	1.00[AFR][1000 genomes]
rs234300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs234305	1.00[AMR][1000 genomes]
rs234311	1.00[AMR][1000 genomes]
rs234320	1.00[AMR][1000 genomes]
rs234350	1.00[AMR][1000 genomes]
rs234358	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs234372	1.00[AMR][1000 genomes]
rs28746189	1.00[AMR][1000 genomes]
rs3000955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs337781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs337797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs421421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57469004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58019075	0.87[AFR][1000 genomes]
rs61407485	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	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 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	chr19:40562600-40579200	Weak transcription	Left Ventricle	heart
2	chr19:40562600-40579400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:40566000-40580000	Weak transcription	Fetal Heart	heart

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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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