Variant report

Variant	rs6113478
Chromosome Location	chr20:22027090-22027091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16983245	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16983322	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16983435	1.00[AMR][1000 genomes]
rs59282496	1.00[AMR][1000 genomes]
rs60582297	1.00[AMR][1000 genomes]
rs6106444	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6113469	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6113479	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6113516	1.00[AMR][1000 genomes]
rs73899928	1.00[AMR][1000 genomes]
rs8124816	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	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv432114	chr20:22012900-22148200	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22026400-22027200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr20:22026400-22027800	Enhancers	Dnd41	blood
3	chr20:22026800-22027200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr20:22027000-22027400	Enhancers	Duodenum Mucosa	Duodenum

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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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