Variant report

Variant	rs6048657
Chromosome Location	chr20:23248165-23248166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1110402	0.89[ASN][1000 genomes]
rs11700168	0.89[ASN][1000 genomes]
rs13043798	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2185871	0.87[ASN][1000 genomes]
rs2405001	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35327803	0.89[ASN][1000 genomes]
rs4815188	0.87[ASN][1000 genomes]
rs6048658	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083070	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066734	chr20:23170094-23277628	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv458948	chr20:23234699-23292849	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv585721	chr20:23234699-23292849	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23238800-23250200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:23238800-23250400	Weak transcription	Aorta	Aorta
3	chr20:23245400-23248200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:23246200-23250600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr20:23246600-23250600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr20:23247600-23249200	Weak transcription	Right Ventricle	heart
7	chr20:23247800-23248200	Enhancers	Right Atrium	heart
8	chr20:23248000-23248200	Enhancers	Left Ventricle	heart
9	chr20:23248000-23250800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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