Variant report

Variant	rs2893323
Chromosome Location	chr1:95783037-95783038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10157242	0.84[AMR][1000 genomes]
rs10157784	0.84[AMR][1000 genomes]
rs10158228	0.84[AMR][1000 genomes]
rs10159103	0.84[AMR][1000 genomes]
rs10159378	0.84[AMR][1000 genomes]
rs10783006	0.84[AMR][1000 genomes]
rs10874912	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11165366	0.83[EUR][1000 genomes]
rs11165367	0.83[EUR][1000 genomes]
rs11165374	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165375	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165379	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11165383	0.86[AMR][1000 genomes]
rs12021552	0.82[AMR][1000 genomes]
rs12022359	0.82[AMR][1000 genomes]
rs12037234	0.84[AMR][1000 genomes]
rs12040083	0.84[AMR][1000 genomes]
rs12116466	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12125618	0.93[AFR][1000 genomes]
rs12135605	0.95[CEU][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12562298	0.82[AMR][1000 genomes]
rs12736643	0.82[AMR][1000 genomes]
rs12752448	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12756468	0.82[AMR][1000 genomes]
rs12756483	0.82[AMR][1000 genomes]
rs1548278	0.83[EUR][1000 genomes]
rs17113369	0.85[YRI][hapmap]
rs17113443	0.82[AMR][1000 genomes]
rs17589093	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2182021	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34988332	0.80[AMR][1000 genomes]
rs4129611	0.80[AMR][1000 genomes]
rs4359066	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4579810	0.81[AMR][1000 genomes]
rs4604740	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61771812	0.83[EUR][1000 genomes]
rs66930640	0.80[AMR][1000 genomes]
rs72723875	0.80[AMR][1000 genomes]
rs912648	0.83[EUR][1000 genomes]
rs927703	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

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	nsv830648	chr1:95760162-95926264	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1006113	chr1:95768502-96139003	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv529002	chr1:95781217-95805002	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2893323	OR8B4	trans	cerebellum	SCAN
rs2893323	TMEM56	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95774400-95786800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:95777000-95786800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:95782200-95785600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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