Variant report

Variant	rs285594
Chromosome Location	chr12:41941429-41941430
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs169564	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2446145	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2468312	0.95[EUR][1000 genomes]
rs2599254	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608698	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2608699	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2608713	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2608717	0.94[EUR][1000 genomes]
rs2730812	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730815	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2730825	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2730831	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730832	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733288	0.81[EUR][1000 genomes]
rs285551	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285552	0.94[EUR][1000 genomes]
rs285553	0.94[EUR][1000 genomes]
rs285554	0.95[EUR][1000 genomes]
rs285558	0.94[EUR][1000 genomes]
rs285559	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285570	0.95[EUR][1000 genomes]
rs285571	0.95[EUR][1000 genomes]
rs285572	0.95[EUR][1000 genomes]
rs285573	0.95[EUR][1000 genomes]
rs285576	0.90[EUR][1000 genomes]
rs285584	0.85[AMR][1000 genomes]
rs285588	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285591	0.90[AMR][1000 genomes]
rs285596	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285597	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287087	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs392217	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61548934	0.97[ASN][1000 genomes]
rs74077823	0.97[ASN][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	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41925600-41949800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:41925800-41944800	Weak transcription	Brain Germinal Matrix	brain

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