Variant report

Variant	rs6488328
Chromosome Location	chr12:10985995-10985996
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10743927	0.90[EUR][1000 genomes]
rs10845220	0.90[EUR][1000 genomes]
rs12371728	1.00[ASN][1000 genomes]
rs1548804	0.93[EUR][1000 genomes]
rs16925194	1.00[ASN][1000 genomes]
rs2110097	1.00[ASN][1000 genomes]
rs2159899	0.93[EUR][1000 genomes]
rs2215716	1.00[ASN][1000 genomes]
rs2232956	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2418105	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2418106	0.93[EUR][1000 genomes]
rs2900550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851578	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3906864	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4288845	1.00[ASN][1000 genomes]
rs55748583	1.00[ASN][1000 genomes]
rs55834906	1.00[ASN][1000 genomes]
rs55862154	1.00[ASN][1000 genomes]
rs612808	0.90[EUR][1000 genomes]
rs619381	0.81[EUR][1000 genomes]
rs621112	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640372	0.83[AFR][1000 genomes]
rs66679979	1.00[ASN][1000 genomes]
rs666841	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667128	0.81[EUR][1000 genomes]
rs668521	0.85[AFR][1000 genomes]
rs669503	0.83[EUR][1000 genomes]
rs67458095	1.00[ASN][1000 genomes]
rs684208	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045955	1.00[ASN][1000 genomes]
rs73051630	1.00[ASN][1000 genomes]
rs73052447	1.00[ASN][1000 genomes]
rs73052449	1.00[ASN][1000 genomes]
rs73052454	1.00[ASN][1000 genomes]
rs73053785	1.00[ASN][1000 genomes]
rs73054354	1.00[ASN][1000 genomes]
rs73054361	1.00[ASN][1000 genomes]
rs73054364	1.00[ASN][1000 genomes]
rs741092	0.93[EUR][1000 genomes]
rs763839	0.90[EUR][1000 genomes]
rs7957888	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049362	chr12:10893573-11018850	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv898776	chr12:10909412-11032045	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6488328	PRR4	cis	multi-tissue	Pritchard
rs6488328	TAS2R45	N/A	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10973600-11009600	Weak transcription	HSMM	muscle

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