Variant report

Variant	rs1904687
Chromosome Location	chr10:52928972-52928973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52928917..52931370-chr10:52940832..52942855,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10995918	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1871630	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1904676	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1904677	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1904683	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1904688	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1904689	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1904692	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1904693	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1904695	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1904696	0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1904697	0.83[ASN][1000 genomes]
rs1904698	0.81[ASN][1000 genomes]
rs1904699	0.82[GIH][hapmap]
rs2339731	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2339732	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3851088	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3862576	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3862579	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3998228	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4505006	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6479991	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7068022	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7085697	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7893773	0.96[ASN][1000 genomes]
rs9414844	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9415733	0.95[ASN][1000 genomes]
rs9633538	0.84[ASN][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	nsv1036645	chr10:52804961-53159076	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1904687	PRKG1	cis	cerebellum	SCAN
rs1904687	PRKG1	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52906000-52931200	Weak transcription	Fetal Muscle Leg	muscle
2	chr10:52908000-52929600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr10:52908400-52929600	Weak transcription	Aorta	Aorta
4	chr10:52910000-52931000	Weak transcription	Fetal Lung	lung
5	chr10:52910600-52942400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr10:52917400-52929000	Weak transcription	NHDF-Ad	bronchial
7	chr10:52922800-52930800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:52927200-52931400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:52927800-52929200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr10:52928400-52929000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:52928400-52929200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr10:52928600-52930400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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