Variant report

Variant	rs12322329
Chromosome Location	chr12:41848829-41848830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10880077	0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180861	0.82[YRI][hapmap]
rs11180908	0.86[YRI][hapmap]
rs12298084	0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299762	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.96[EUR][1000 genomes]
rs12313532	0.88[CEU][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314473	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322196	0.88[YRI][hapmap]
rs12423463	1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs12424813	1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs12817240	1.00[ASN][1000 genomes]
rs12826427	1.00[ASN][1000 genomes]
rs12826692	1.00[ASN][1000 genomes]
rs12828934	1.00[ASN][1000 genomes]
rs2254521	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2446145	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608698	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608699	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608713	0.94[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730812	0.83[GIH][hapmap];1.00[MEX][hapmap]
rs2730815	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730825	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733288	0.94[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285559	0.83[GIH][hapmap];1.00[MEX][hapmap]
rs285571	0.83[GIH][hapmap]
rs285588	1.00[MEX][hapmap]
rs285596	0.83[GIH][hapmap];1.00[MEX][hapmap]
rs287087	0.83[GIH][hapmap];1.00[MEX][hapmap]
rs34753427	1.00[ASN][1000 genomes]
rs35366617	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35487549	1.00[ASN][1000 genomes]
rs7133340	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][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	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
2	esv3501985	chr12:41847710-41863530	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
3	esv3501996	chr12:41847724-41863526	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12322329	PDZRN4	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41829600-41860600	Weak transcription	Aorta	Aorta
2	chr12:41838000-41852400	Weak transcription	Fetal Brain Male	brain
3	chr12:41838200-41852400	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:41838400-41851600	Weak transcription	Brain Germinal Matrix	brain
5	chr12:41848200-41850000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:41848600-41860800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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