Variant report

Variant	rs794157
Chromosome Location	chr12:30741799-30741800
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1087341	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11050958	0.82[ASN][1000 genomes]
rs1438910	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1438911	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1682402	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1682403	0.83[AMR][1000 genomes]
rs2438666	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2449995	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2449997	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2449998	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2449999	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57153590	0.83[ASN][1000 genomes]
rs794156	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs794159	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7955626	0.85[ASN][1000 genomes]
rs7972061	0.82[ASN][1000 genomes]
rs956503	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs794157	CAPRIN2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30727800-30752800	Weak transcription	Left Ventricle	heart
2	chr12:30732400-30752000	Weak transcription	HSMMtube	muscle
3	chr12:30733400-30752600	Weak transcription	Right Ventricle	heart
4	chr12:30734200-30749800	Weak transcription	Aorta	Aorta
5	chr12:30736600-30752400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:30739600-30752800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:30739600-30756600	Weak transcription	Pancreas	Pancrea

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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