Variant report

Variant	rs56194753
Chromosome Location	chr2:86640233-86640234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17027163	0.89[EUR][1000 genomes]
rs17027169	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55896146	0.82[EUR][1000 genomes]
rs56233501	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56263644	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58740162	0.81[EUR][1000 genomes]
rs61629709	0.82[EUR][1000 genomes]
rs6728272	0.92[EUR][1000 genomes]
rs72926457	0.82[EUR][1000 genomes]
rs72926466	0.82[EUR][1000 genomes]
rs72926475	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer 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	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56194753	VPS24	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86638600-86640600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:86639000-86640600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:86639200-86640400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:86639200-86640400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:86640200-86640600	Enhancers	Monocytes-CD14+_RO01746	blood

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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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