Variant report

Variant	rs12759582
Chromosome Location	chr1:180594429-180594430
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11799355	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11799662	0.87[AFR][1000 genomes]
rs12402575	0.88[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs12403445	0.95[AFR][1000 genomes]
rs12404501	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs12408146	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs12408176	0.88[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap]
rs16856361	0.88[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs16856367	0.88[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap]
rs16856409	0.88[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap]
rs36022153	0.87[AFR][1000 genomes]
rs4439326	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs67135271	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12759582	RGS16	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180581800-180600600	Weak transcription	Fetal Heart	heart
2	chr1:180591400-180596600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:180593200-180601000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:180593400-180599400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:180593400-180600200	Weak transcription	K562	blood
6	chr1:180593600-180599600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:180594400-180594600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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