Variant report

Variant	rs56131948
Chromosome Location	chr11:45545671-45545672
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56838535	1.00[AMR][1000 genomes]
rs56929514	1.00[AMR][1000 genomes]
rs57519851	1.00[AMR][1000 genomes]
rs60159330	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73460224	1.00[AMR][1000 genomes]
rs73460225	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045831	chr11:45419113-45580407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv897310	chr11:45487041-45631953	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45540200-45560200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:45541600-45547200	Weak transcription	Fetal Brain Male	brain
3	chr11:45544800-45547200	Enhancers	Fetal Muscle Leg	muscle
4	chr11:45544800-45547400	Enhancers	Fetal Stomach	stomach
5	chr11:45544800-45548000	Enhancers	Fetal Lung	lung
6	chr11:45545600-45547000	Enhancers	Fetal Muscle Trunk	muscle

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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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