Variant report

Variant	rs11948057
Chromosome Location	chr5:111867766-111867767
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11241168	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11948701	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11958362	0.84[AMR][1000 genomes]
rs12659548	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55713401	0.84[AMR][1000 genomes]
rs55818114	0.83[AMR][1000 genomes]
rs56019374	0.84[AMR][1000 genomes]
rs57909030	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58170444	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58636222	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72789912	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789914	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789924	0.83[EUR][1000 genomes];0.89[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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv882715	chr5:111836278-111894491	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv882716	chr5:111848890-111894491	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111861200-111868200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:111861600-111868000	Weak transcription	GM12878-XiMat	blood
3	chr5:111861600-111868200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:111862400-111868400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:111865400-111868400	Weak transcription	Adipose Nuclei	Adipose
6	chr5:111865600-111869000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:111865600-111869800	Weak transcription	K562	blood
8	chr5:111866800-111868000	Enhancers	Primary B cells from peripheral blood	blood
9	chr5:111867600-111868000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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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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