Variant report

Variant	rs4847426
Chromosome Location	chr1:93884948-93884949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10443193	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1081522	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10874783	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10874784	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11164921	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12138486	0.84[EUR][1000 genomes]
rs1365297	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2114271	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2114272	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2162276	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35628716	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35910103	0.81[EUR][1000 genomes]
rs35915989	0.92[EUR][1000 genomes]
rs4847241	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4847242	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61266405	0.83[EUR][1000 genomes]
rs6686095	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6691545	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs698927	0.92[EUR][1000 genomes]
rs771458	0.92[EUR][1000 genomes]
rs771462	0.92[EUR][1000 genomes]
rs771478	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs771481	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs812214	0.82[AMR][1000 genomes];0.90[EUR][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	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3375834	chr1:93872980-93904647	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4847426	PIM2	trans	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93881400-93891800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:93884200-93885200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:93884800-93885400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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