Variant report

Variant	rs6595160
Chromosome Location	chr5:118039002-118039003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10463464	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10463702	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11742138	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12513958	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12520595	0.94[EUR][1000 genomes]
rs12659643	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13162843	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13165356	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13184812	0.89[EUR][1000 genomes]
rs1429710	0.94[EUR][1000 genomes]
rs1429711	0.94[EUR][1000 genomes]
rs1429712	0.88[EUR][1000 genomes]
rs1594243	0.94[EUR][1000 genomes]
rs1864329	0.94[EUR][1000 genomes]
rs2376685	0.94[EUR][1000 genomes]
rs34951891	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35097285	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36060260	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4362970	0.94[EUR][1000 genomes]
rs4591779	0.94[EUR][1000 genomes]
rs62372227	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6595157	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6595159	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6860190	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6874450	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6875045	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6896169	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7705673	0.94[EUR][1000 genomes]
rs7728143	0.94[AMR][1000 genomes];0.89[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	nsv599541	chr5:117869174-118049776	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers 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	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6595160	SEMA6A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118037200-118040000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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