Variant report

Variant	rs10518289
Chromosome Location	chr4:122806447-122806448
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11721457	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs11726196	0.94[ASW][hapmap];0.86[LWK][hapmap];0.84[MKK][hapmap];0.86[YRI][hapmap]
rs11732666	0.83[CEU][hapmap];0.82[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs13108360	0.96[EUR][1000 genomes]
rs13117282	0.90[EUR][1000 genomes]
rs13119958	0.92[EUR][1000 genomes]
rs13121963	0.96[EUR][1000 genomes]
rs13127488	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs13131003	0.90[CEU][hapmap]
rs13133876	0.91[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs13138774	0.94[EUR][1000 genomes]
rs13141092	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs13143218	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs13151345	0.91[CEU][hapmap];0.82[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap]
rs1507991	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs1507993	0.87[CEU][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap]
rs2292232	0.87[CEU][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs3805158	0.87[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs3805161	0.87[CEU][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs4833772	0.85[JPT][hapmap]
rs4833777	0.95[EUR][1000 genomes]
rs4833778	0.87[CEU][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs61545746	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7672879	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs884701	0.87[CEU][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs906494	0.90[EUR][1000 genomes]
rs906495	0.89[EUR][1000 genomes]
rs906496	0.83[CEU][hapmap];0.92[TSI][hapmap]
rs951974	0.91[CEU][hapmap];0.82[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs953691	0.91[CEU][hapmap];0.82[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1803127	chr4:122806228-122830334	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1014729	chr4:122806228-122848966	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10518289	EXOSC9	cis	lymphoblastoid	seeQTL
rs10518289	BBS7	cis	cerebellum	SCAN
rs10518289	BBS7	cis	parietal	SCAN
rs10518289	CCNA2	cis	lymphoblastoid	seeQTL
rs10518289	CCNA2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122806400-122807400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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