Variant report

Variant	rs12489811
Chromosome Location	chr3:70073862-70073863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11923982	0.81[ASN][1000 genomes]
rs12495615	0.83[ASN][1000 genomes]
rs12496787	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17785152	0.81[GIH][hapmap];0.80[MEX][hapmap];0.86[ASN][1000 genomes]
rs55966844	0.85[ASN][1000 genomes]
rs60251138	0.83[ASN][1000 genomes]
rs60403843	0.86[ASN][1000 genomes]
rs60647884	0.82[ASN][1000 genomes]
rs7619924	0.82[ASN][1000 genomes]
rs7632596	0.84[ASN][1000 genomes]
rs9815027	0.81[GIH][hapmap]

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	nsv533396	chr3:69964029-70538306	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2763277	chr3:70065528-70074892	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2762335	chr3:70069112-70074892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12489811	SHQ1	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:70063800-70098000	Weak transcription	Aorta	Aorta
2	chr3:70073000-70074200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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