Variant report

Variant	rs2199030
Chromosome Location	chr12:41780758-41780759
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10506191	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10506192	1.00[CEU][hapmap]
rs10735992	0.95[YRI][hapmap]
rs10735995	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];0.83[ASN][1000 genomes]
rs10785235	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10785246	0.92[YRI][hapmap]
rs10785253	0.96[YRI][hapmap]
rs10785258	1.00[CEU][hapmap]
rs10785259	0.91[EUR][1000 genomes]
rs10785261	1.00[CEU][hapmap];0.83[GIH][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs10785262	0.98[EUR][1000 genomes]
rs10785263	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs10785264	1.00[CEU][hapmap]
rs10880054	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10880063	1.00[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs10880067	1.00[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap]
rs10880071	1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs11180834	0.85[EUR][1000 genomes]
rs11180836	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11180843	0.89[EUR][1000 genomes]
rs11180851	0.96[CEU][hapmap];0.80[GIH][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs11180863	1.00[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap]
rs11180864	1.00[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap]
rs11180878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614231	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11835941	1.00[CEU][hapmap]
rs12146801	0.89[EUR][1000 genomes]
rs12369680	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12370984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12422274	0.88[EUR][1000 genomes]
rs12578784	0.89[EUR][1000 genomes]
rs12817575	1.00[CEU][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs1405549	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[EUR][1000 genomes]
rs1458176	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1527090	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1534279	0.88[EUR][1000 genomes]
rs1534280	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1544000	0.89[EUR][1000 genomes]
rs1880886	0.92[YRI][hapmap]
rs1902907	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1902909	0.91[EUR][1000 genomes]
rs1902911	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1918221	0.89[EUR][1000 genomes]
rs1918226	0.89[EUR][1000 genomes]
rs1918227	0.89[EUR][1000 genomes]
rs2405911	0.89[EUR][1000 genomes]
rs2897268	1.00[CEU][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs34220247	0.88[EUR][1000 genomes]
rs34892771	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768344	0.92[YRI][hapmap]
rs4768351	0.96[YRI][hapmap]
rs6582332	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6582334	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6582336	0.87[EUR][1000 genomes]
rs7133365	1.00[CEU][hapmap]
rs7133896	0.87[YRI][hapmap]
rs7134525	0.87[YRI][hapmap]
rs7301366	0.90[EUR][1000 genomes]
rs7315276	0.91[EUR][1000 genomes]
rs7488531	0.88[EUR][1000 genomes]
rs7954106	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7956320	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7956499	0.81[ASN][1000 genomes]
rs7957823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960955	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7963312	1.00[CEU][hapmap]
rs7967532	0.91[EUR][1000 genomes]
rs7979586	0.89[EUR][1000 genomes]
rs930905	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs961337	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9783512	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv899036	chr12:41777144-41807859	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv899037	chr12:41777144-41819215	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv1044910	chr12:41778831-41813198	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
6	esv2761735	chr12:41780758-41811938	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
7	esv2757501	chr12:41780758-41816002	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
8	esv2759896	chr12:41780758-41816002	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv2755020	chr12:41780758-41820936	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2199030	PDZRN4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41776200-41787400	Weak transcription	Aorta	Aorta

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