Variant report

Variant	rs9475227
Chromosome Location	chr6:13737010-13737011
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13732101..13734946-chr6:13735634..13737792,2	K562	blood:
2	chr6:13736668..13740748-chr6:13741569..13743871,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10484251	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap]
rs10948811	0.84[CHB][hapmap]
rs11753232	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs11755634	0.84[CHB][hapmap]
rs11759518	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs1573702	0.84[CHB][hapmap]
rs17213683	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17797988	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17797994	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1963222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1963223	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071836	0.84[CHB][hapmap]
rs2299026	1.00[CHB][hapmap]
rs2299027	1.00[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap]
rs35930359	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757256	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3846912	0.84[CHB][hapmap]
rs3906327	0.84[CHB][hapmap]
rs4712100	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715512	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55885615	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56272112	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459020	0.84[CHB][hapmap]
rs6911121	0.84[CHB][hapmap]
rs6935036	0.91[ASN][1000 genomes]
rs72831050	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72831051	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831055	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72831059	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72831061	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7744218	0.84[CHB][hapmap]
rs7760689	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9475276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1030774	chr6:13736025-13783733	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9475227	SIRT5	cis	parietal	SCAN
rs9475227	SIRT5	cis	cerebellum	SCAN
rs9475227	PAK1IP1	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13733600-13737400	Enhancers	Fetal Brain Male	brain
2	chr6:13734800-13737400	Weak transcription	Fetal Brain Female	brain

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