Variant report

Variant	rs36023246
Chromosome Location	chr15:49699311-49699312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10519224	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10519225	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11853969	1.00[AFR][1000 genomes]
rs11854039	1.00[AFR][1000 genomes]
rs11854557	1.00[AFR][1000 genomes]
rs11855798	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11857515	0.88[AFR][1000 genomes]
rs12148764	0.81[ASN][1000 genomes]
rs12591300	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12592508	0.81[ASN][1000 genomes]
rs12593151	0.81[ASN][1000 genomes]
rs12595692	0.81[ASN][1000 genomes]
rs12901353	1.00[AFR][1000 genomes]
rs12901929	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12902096	1.00[AFR][1000 genomes]
rs12902271	0.86[AFR][1000 genomes]
rs12905203	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12905477	1.00[AFR][1000 genomes]
rs12916839	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17478694	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17478785	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17479589	0.81[ASN][1000 genomes]
rs1961393	1.00[AFR][1000 genomes]
rs2899434	0.81[ASN][1000 genomes]
rs34002493	0.81[ASN][1000 genomes]
rs34562714	1.00[AFR][1000 genomes]
rs34748066	1.00[AFR][1000 genomes]
rs36100631	1.00[AFR][1000 genomes]
rs4389093	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4436732	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4480740	0.81[ASN][1000 genomes]
rs4547278	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4774538	1.00[AFR][1000 genomes]
rs4775806	1.00[AFR][1000 genomes]
rs4775808	0.96[AFR][1000 genomes]
rs55979115	1.00[AFR][1000 genomes]
rs62009834	1.00[AFR][1000 genomes]
rs62009977	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6493372	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7174135	0.81[ASN][1000 genomes]
rs7180168	1.00[AFR][1000 genomes]
rs7497335	0.92[AFR][1000 genomes]
rs8029687	0.82[AFR][1000 genomes]
rs9920722	0.93[EUR][1000 genomes]

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	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs36023246	COPS2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49699200-49700200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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