Variant report

Variant	rs56325279
Chromosome Location	chr5:116798909-116798910
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12652595	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12656922	0.96[ASN][1000 genomes]
rs17141815	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56871737	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62380096	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62380101	0.84[ASN][1000 genomes]
rs62380128	0.96[ASN][1000 genomes]
rs6886520	1.00[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	nsv830457	chr5:116724777-116875060	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv882756	chr5:116783660-116905052	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv969245	chr5:116796952-116800030	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116791800-116799400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:116798000-116799000	Weak transcription	Brain Substantia Nigra	brain
3	chr5:116798000-116799600	Weak transcription	Brain Anterior Caudate	brain
4	chr5:116798400-116799600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:116798800-116800400	Enhancers	HSMM	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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