Variant report

Variant	rs56754716
Chromosome Location	chr3:54347585-54347586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs35767152	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4077645	1.00[EUR][1000 genomes]
rs56681340	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56998438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58297594	1.00[EUR][1000 genomes]
rs58614419	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58941568	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58970130	1.00[EUR][1000 genomes]
rs59922903	1.00[EUR][1000 genomes]
rs60207589	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60325921	1.00[ASN][1000 genomes]
rs73841974	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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv817328	chr3:54250314-54380438	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54344000-54347600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:54344000-54360800	Weak transcription	Psoas Muscle	Psoas
3	chr3:54345200-54347600	Enhancers	Fetal Brain Male	brain
4	chr3:54345600-54349400	Weak transcription	Ovary	ovary
5	chr3:54346400-54348800	Weak transcription	Liver	Liver

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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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