Variant report

Variant	rs2084257
Chromosome Location	chr1:159523486-159523487
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs12406565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12565926	0.82[JPT][hapmap]
rs1446960	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16842232	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2275674	0.82[ASN][1000 genomes]
rs56034802	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7548003	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2084257	SMG5	cis	cerebellum	SCAN
rs2084257	KCNJ9	cis	cerebellum	SCAN
rs2084257	INSRR	cis	cerebellum	SCAN
rs2084257	CD1A	cis	cerebellum	SCAN
rs2084257	CD48	cis	cerebellum	SCAN
rs2084257	PMVK	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159523400-159524000	Enhancers	Monocytes-CD14+_RO01746	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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