Variant report

Variant	rs1904683
Chromosome Location	chr10:52949162-52949163
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52945796..52948103-chr10:52948624..52950543,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10995918	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1871630	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1904676	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1904677	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1904687	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1904688	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1904689	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1904692	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1904693	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1904695	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1904696	0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1904699	0.82[GIH][hapmap]
rs2339731	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2339732	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3851088	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3862576	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3862579	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3998228	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4505006	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6479991	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7068022	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7085697	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7893773	0.89[ASN][1000 genomes]
rs9414844	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9415733	0.88[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
rs1904683	PRKG1	cis	cerebellum	SCAN
rs1904683	PRKG1	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52936800-52964400	Weak transcription	NHLF	lung
2	chr10:52946400-52964400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:52946600-52950200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:52946600-52955600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:52947200-52949200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr10:52947800-52950400	Enhancers	Aorta	Aorta
7	chr10:52948600-52949400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:52948600-52949600	Weak transcription	Right Atrium	heart
9	chr10:52948800-52950000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:52948800-52950200	Weak transcription	Small Intestine	intestine
11	chr10:52948800-52953400	Weak transcription	Psoas Muscle	Psoas

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