Variant report

Variant	rs730591
Chromosome Location	chr10:49973153-49973154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10508908	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10776643	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11101469	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11101470	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11101471	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11595065	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11598212	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12768835	0.92[CEU][hapmap]
rs17836440	0.92[CEU][hapmap]
rs2663043	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2683610	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7904251	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.80[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895374	chr10:49969556-49990081	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs730591	PRKG1	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49962400-49980600	Strong transcription	Primary B cells from cord blood	blood
2	chr10:49967600-49977800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:49967600-50000000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr10:49967800-49978200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr10:49967800-49979000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:49967800-50006800	Strong transcription	Primary B cells from peripheral blood	blood
7	chr10:49968000-49974200	Weak transcription	Lung	lung
8	chr10:49968000-49977200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr10:49968600-49978600	Weak transcription	Adipose Nuclei	Adipose
10	chr10:49969200-49973800	Enhancers	Brain Germinal Matrix	brain
11	chr10:49969400-49989800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:49971200-49977200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr10:49971400-49976800	Weak transcription	Fetal Stomach	stomach
14	chr10:49971400-49982600	Weak transcription	Spleen	Spleen
15	chr10:49971800-49974400	Genic enhancers	GM12878-XiMat	blood
16	chr10:49971800-49975600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr10:49972000-49974000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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