Variant report

Variant	rs2898056
Chromosome Location	chr12:48401681-48401682
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10875714	0.88[EUR][1000 genomes]
rs10875715	0.86[EUR][1000 genomes]
rs12228854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12308909	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1990028	0.87[AMR][1000 genomes]
rs2213163	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3737548	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3782915	0.88[EUR][1000 genomes]
rs3809322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3809324	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56037230	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56959315	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs740022	0.89[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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2898056	RP1-228P16.1	cis	Adipose Subcutaneous	GTEx
rs2898056	RP1-228P16.1	cis	Skin Sun Exposed Lower leg	GTEx
rs2898056	RP1-228P16.1	cis	Heart Left Ventricle	GTEx
rs2898056	ZNF641	cis	Muscle Skeletal	GTEx
rs2898056	RP1-228P16.1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48399400-48415000	Weak transcription	Right Atrium	heart
2	chr12:48400200-48402400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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

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