Variant report

Variant	rs1994284
Chromosome Location	chr12:42444888-42444889
allele	C/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:35)

rs_ID	r²[population]
rs1024700	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1233988	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1233992	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1233994	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1233996	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1234032	0.81[ASN][1000 genomes]
rs1234034	0.81[ASN][1000 genomes]
rs1234037	0.82[ASN][1000 genomes]
rs1234038	0.82[ASN][1000 genomes]
rs1234040	0.82[ASN][1000 genomes]
rs1234054	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12826710	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1463613	0.81[AMR][1000 genomes]
rs1683198	0.80[AMR][1000 genomes]
rs1688855	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1688874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1688879	0.81[AMR][1000 genomes]
rs1732350	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1732351	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1732352	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1882139	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6582378	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7136038	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7305763	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs824697	0.81[AMR][1000 genomes]
rs824699	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs824716	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs824717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs824718	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs824722	0.82[AMR][1000 genomes]
rs824724	0.81[AMR][1000 genomes]
rs824726	0.81[AMR][1000 genomes]
rs844046	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs865420	0.81[AMR][1000 genomes]
rs917666	0.88[AMR][1000 genomes];0.94[ASN][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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832387	chr12:42345541-42465505	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42444800-42447000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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