Variant report

Variant	rs2161500
Chromosome Location	chr5:56944366-56944367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10057570	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057880	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077005	0.81[AFR][1000 genomes]
rs10487613	0.81[AFR][1000 genomes]
rs10487614	0.81[AFR][1000 genomes]
rs12520986	0.81[AFR][1000 genomes]
rs13185580	0.81[AFR][1000 genomes]
rs1347071	1.00[YRI][hapmap]
rs170740	0.81[AFR][1000 genomes]
rs170741	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183477	0.81[AFR][1000 genomes]
rs1861059	1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs2017201	0.81[AFR][1000 genomes]
rs2041678	0.81[AFR][1000 genomes]
rs2112888	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2191445	0.81[AFR][1000 genomes]
rs2191446	0.81[AFR][1000 genomes]
rs2191448	0.81[AFR][1000 genomes]
rs2215420	0.81[AFR][1000 genomes]
rs229960	0.81[AFR][1000 genomes]
rs229961	0.81[AFR][1000 genomes]
rs229963	0.81[AFR][1000 genomes]
rs229965	0.81[AFR][1000 genomes]
rs230853	0.81[AFR][1000 genomes]
rs230860	0.81[AFR][1000 genomes]
rs230861	0.81[AFR][1000 genomes]
rs2408849	0.81[AFR][1000 genomes]
rs2568537	1.00[YRI][hapmap]
rs2898028	0.81[AFR][1000 genomes]
rs4235474	0.81[AFR][1000 genomes]
rs4285175	0.87[MKK][hapmap]
rs4699910	0.81[AFR][1000 genomes]
rs4700214	0.81[AFR][1000 genomes]
rs6450431	0.81[AFR][1000 genomes]
rs6886241	0.81[AFR][1000 genomes]
rs7726732	0.81[AFR][1000 genomes]
rs7732108	0.81[AFR][1000 genomes]
rs854036	1.00[YRI][hapmap]
rs917655	0.81[AFR][1000 genomes]
rs986101	0.81[AFR][1000 genomes]
rs991727	0.81[AFR][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	nsv830309	chr5:56837590-56978283	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2161500	CDC20B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:56943800-56949400	Weak transcription	HSMM	muscle

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