Variant report

Variant	rs1654516
Chromosome Location	chr19:51398398-51398399
allele	C/T
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:12)

rs_ID	r²[population]
rs1654515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1701936	0.91[AMR][1000 genomes]
rs1701937	0.91[AMR][1000 genomes]
rs1701940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2135547	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2659111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2659118	0.83[AMR][1000 genomes]
rs2664145	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2739481	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2739485	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2739488	0.83[AMR][1000 genomes]
rs2739489	1.00[AFR][1000 genomes];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	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51394800-51399800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr19:51397600-51400600	Enhancers	K562	blood
3	chr19:51398000-51398800	ZNF genes & repeats	GM12878-XiMat	blood
4	chr19:51398000-51399000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
5	chr19:51398200-51398400	Bivalent Enhancer	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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