Variant report

Variant	rs9347793
Chromosome Location	chr6:164238766-164238767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:164236261..164240051-chr6:164242043..164246264,3	K562	blood:
2	chr6:164230399..164232201-chr6:164236575..164239292,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1040641	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10945921	0.81[CHB][hapmap]
rs1111705	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13203619	0.90[ASN][1000 genomes]
rs2015261	0.96[ASN][1000 genomes]
rs2321978	0.85[CHB][hapmap]
rs2321979	0.81[CHB][hapmap]
rs4709760	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4709765	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709766	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4709769	0.81[CHB][hapmap]
rs4709773	0.83[ASN][1000 genomes]
rs6925383	0.93[ASN][1000 genomes]
rs7762180	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7765258	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8180622	1.00[ASN][1000 genomes]
rs880095	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9295231	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9295232	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9295233	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9295234	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9346974	0.95[ASN][1000 genomes]
rs9346975	0.90[ASN][1000 genomes]
rs9347790	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9347791	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9347792	1.00[ASN][1000 genomes]
rs9347798	0.83[ASN][1000 genomes]
rs9355439	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9355440	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9355441	0.81[CHB][hapmap]
rs9355442	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9356148	0.85[ASN][1000 genomes]
rs9356152	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9356153	0.91[ASN][1000 genomes]
rs9356156	0.90[ASN][1000 genomes]
rs9364701	0.86[ASN][1000 genomes]
rs9364703	0.96[ASN][1000 genomes]
rs9365619	0.98[ASN][1000 genomes]
rs9365620	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9456883	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9456885	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv970710	chr6:164226049-164239768	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2762629	chr6:164237798-164239306	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9347793	PACRG	cis	cerebellum	SCAN
rs9347793	LPA	cis	cerebellum	SCAN
rs9347793	NCRNA00241	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164230400-164249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:164232400-164241200	Weak transcription	Brain Germinal Matrix	brain
3	chr6:164236400-164241600	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:164236400-164241600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:164236400-164249000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:164236600-164241800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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