Variant report

Variant	rs7905063
Chromosome Location	chr10:52964590-52964591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10740166	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10996069	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1871631	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1904700	0.83[JPT][hapmap]
rs7897633	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7906944	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7911676	0.81[ASN][1000 genomes]
rs9415777	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9415788	0.92[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
rs7905063	PRKG1	cis	cerebellum	SCAN
rs7905063	PRKG1	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52949200-52966400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr10:52950400-52975800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:52957400-52965000	Weak transcription	Pancreas	Pancrea
4	chr10:52958800-52975600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:52961600-52968200	Weak transcription	Aorta	Aorta
6	chr10:52961800-52964800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr10:52962000-52966200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:52962800-52964600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr10:52962800-52964800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr10:52963000-52964600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr10:52963000-52964600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr10:52963800-52964800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr10:52964000-52964800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr10:52964200-52964600	Enhancers	Psoas Muscle	Psoas
15	chr10:52964200-52964800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:52964200-52965200	Enhancers	Rectal Smooth Muscle	rectum
17	chr10:52964400-52964600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:52964400-52964600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:52964400-52964600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr10:52964400-52964600	Enhancers	NHLF	lung
21	chr10:52964400-52964800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:52964400-52965200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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