Variant report

Variant	rs11265522
Chromosome Location	chr1:160890159-160890160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs11265510	0.81[JPT][hapmap];0.85[MEX][hapmap]
rs11265526	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265533	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11265534	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11587040	0.85[MEX][hapmap]
rs11805631	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12126310	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1855186	0.90[MEX][hapmap]
rs1855187	0.81[JPT][hapmap]
rs1981048	0.80[AMR][1000 genomes]
rs2039415	0.85[MEX][hapmap]
rs2184066	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2274910	0.85[LWK][hapmap];0.80[MEX][hapmap]
rs28368883	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34655593	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3829790	0.85[CHB][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3928803	0.81[EUR][1000 genomes]
rs4656958	0.85[MEX][hapmap]
rs4656968	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4656971	0.82[CEU][hapmap];0.85[CHB][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4656972	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61802165	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6656769	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6680969	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6691389	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7411035	0.81[JPT][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap]
rs7516660	0.85[MEX][hapmap]
rs7526396	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs955615	0.87[AMR][1000 genomes];0.84[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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv3430322	chr1:160851829-160920480	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv947200	chr1:160870136-160905390	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11265522	USP21	cis	cerebellum	SCAN
rs11265522	APCS	cis	cerebellum	SCAN
rs11265522	SPTA1	cis	parietal	SCAN
rs11265522	C1orf110	cis	cerebellum	SCAN
rs11265522	ARHGAP30	cis	cerebellum	SCAN
rs11265522	RP11-312J18.6	cis	Thyroid	GTEx
rs11265522	LMNA	cis	parietal	SCAN
rs11265522	F11R	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160890000-160890200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell

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