Variant report

Variant	rs10508907
Chromosome Location	chr10:49950336-49950337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10776642	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10857626	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10857632	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10857633	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11101442	0.82[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];0.93[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12242299	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.93[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.81[YRI][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17836423	0.95[CHB][hapmap];0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs1871599	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs1993986	0.81[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2377627	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2377628	0.81[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs41282001	0.83[ASN][1000 genomes]
rs4838645	0.81[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4838646	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7076662	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7099117	0.80[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10508907	PRKG1	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49923400-49960200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:49925200-49951600	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:49926400-49953600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:49927800-49953400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:49928000-49951600	Strong transcription	GM12878-XiMat	blood
6	chr10:49928400-49953800	Strong transcription	Primary hematopoietic stem cells	blood
7	chr10:49931000-49952800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr10:49931000-49956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr10:49934200-49951400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr10:49934400-49955800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr10:49934600-49955800	Strong transcription	Primary B cells from cord blood	blood
12	chr10:49935400-49951400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr10:49939600-49956200	Weak transcription	Adipose Nuclei	Adipose
14	chr10:49939800-49951200	Weak transcription	Lung	lung
15	chr10:49940800-49951200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:49947000-49950400	Weak transcription	Spleen	Spleen
17	chr10:49948600-49957200	Weak transcription	Esophagus	oesophagus
18	chr10:49949600-49950400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr10:49950000-49951000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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