Variant report

Variant	rs4840530
Chromosome Location	chr8:10846606-10846607
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10089518	0.82[GIH][hapmap]
rs10091913	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs10107384	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs10217059	0.91[CEU][hapmap]
rs11250103	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11250108	0.80[EUR][1000 genomes]
rs11779199	0.91[CEU][hapmap]
rs11784312	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs11988372	0.91[CEU][hapmap]
rs12216757	0.80[EUR][1000 genomes]
rs12216784	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs12216875	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs4320511	0.91[CEU][hapmap];0.80[TSI][hapmap]
rs4507728	0.91[CEU][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs4841469	0.84[EUR][1000 genomes]
rs4841471	0.91[CEU][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs4841472	0.83[EUR][1000 genomes]
rs4841474	0.81[EUR][1000 genomes]
rs4841476	0.83[EUR][1000 genomes]
rs4841479	0.95[CEU][hapmap]
rs56278516	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56319439	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61427182	0.82[EUR][1000 genomes]
rs6601546	0.87[CEU][hapmap]
rs6990395	0.83[EUR][1000 genomes]
rs7016361	0.91[CEU][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs73196884	0.82[EUR][1000 genomes]
rs73196885	0.82[EUR][1000 genomes]
rs7824797	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs7826561	0.81[EUR][1000 genomes]
rs7836687	0.82[EUR][1000 genomes]
rs7836720	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs7837828	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs7838833	0.91[CEU][hapmap]
rs9329232	0.91[CEU][hapmap]
rs9657542	0.91[CEU][hapmap]

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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4840530	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs4840530	C8orf79	cis	cerebellum	SCAN
rs4840530	INPPL1	trans	cerebellum	SCAN
rs4840530	CLDN23	cis	multi-tissue	Pritchard
rs4840530	FLJ10661	cis	cerebellum	SCAN
rs4840530	BLK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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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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