Variant report

Variant	rs1865645
Chromosome Location	chr10:52991510-52991511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10490978	0.90[ASN][1000 genomes]
rs10822481	0.85[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs1915672	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1915673	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1915674	0.91[ASN][1000 genomes]
rs2219884	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3844130	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7079584	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9943367	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9943368	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[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
rs1865645	PRKG1	cis	parietal	SCAN
rs1865645	ARHGAP22	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52984000-52992800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:52987800-52992600	Weak transcription	Right Atrium	heart
3	chr10:52987800-52992600	Weak transcription	Right Ventricle	heart
4	chr10:52988200-52992800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:52988800-52992000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr10:52989800-52992200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:52990400-52992800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr10:52990600-52992000	Enhancers	Aorta	Aorta
9	chr10:52990600-52992200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:52990600-52992200	Enhancers	Colon Smooth Muscle	Colon
11	chr10:52990600-52992200	Enhancers	Fetal Heart	heart
12	chr10:52990600-52992800	Enhancers	Fetal Muscle Leg	muscle
13	chr10:52990600-52993800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr10:52990800-52992200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr10:52991000-52992000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr10:52991000-52992000	Enhancers	NHDF-Ad	bronchial
17	chr10:52991000-52992400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:52991000-52993400	Enhancers	Rectal Smooth Muscle	rectum
19	chr10:52991200-52992000	Enhancers	Brain Anterior Caudate	brain
20	chr10:52991200-52992600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr10:52991200-53003000	Weak transcription	Left Ventricle	heart
22	chr10:52991400-52992000	Enhancers	Hela-S3	cervix
23	chr10:52991400-52992000	Enhancers	NHLF	lung
24	chr10:52991400-52992400	Weak transcription	Psoas Muscle	Psoas
25	chr10:52991400-52996600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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