Variant report

Variant	rs57385739
Chromosome Location	chr20:21814602-21814603
allele	A/C
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]
rs11696327	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11698973	0.86[EUR][1000 genomes]
rs12624315	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12625990	0.86[EUR][1000 genomes]
rs2328642	0.93[EUR][1000 genomes]
rs2876612	0.93[EUR][1000 genomes]
rs6035954	0.86[EUR][1000 genomes]
rs6047636	0.93[EUR][1000 genomes]
rs6047651	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6113381	0.93[EUR][1000 genomes]
rs6113382	0.93[EUR][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	nsv912814	chr20:21703615-21946928	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 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	chr20:21808800-21816800	Weak transcription	Colon Smooth Muscle	Colon
2	chr20:21812800-21816400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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