Variant report

Variant	rs11265510
Chromosome Location	chr1:160859559-160859560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10797087	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10908808	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10908809	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10908810	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10908811	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10908812	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10908813	0.86[EUR][1000 genomes]
rs11265514	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11265516	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11265519	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11587040	0.96[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs12080285	0.83[EUR][1000 genomes]
rs12125065	0.88[EUR][1000 genomes]
rs12126310	0.81[JPT][hapmap];0.85[MEX][hapmap]
rs12135639	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12409609	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12740520	0.88[EUR][1000 genomes]
rs1333062	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17387157	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1810924	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1855186	0.96[CEU][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs1855187	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1930596	0.94[EUR][1000 genomes]
rs1930598	0.88[EUR][1000 genomes]
rs2039415	0.92[CEU][hapmap];0.81[MEX][hapmap];0.88[EUR][1000 genomes]
rs2184064	0.88[EUR][1000 genomes]
rs2225591	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2236515	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs2274905	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2274907	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2274908	0.88[CEU][hapmap];0.80[GIH][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2274909	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2274910	0.88[CEU][hapmap];0.80[GIH][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2297559	0.88[EUR][1000 genomes]
rs34067571	0.80[AMR][1000 genomes]
rs3766356	0.88[CEU][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3766357	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3766359	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3818724	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820094	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs3829790	0.80[MEX][hapmap]
rs3953093	0.86[EUR][1000 genomes]
rs3953095	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4129196	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4656277	0.88[EUR][1000 genomes]
rs4656282	0.82[EUR][1000 genomes]
rs4656953	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4656955	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4656956	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs4656957	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs4656958	0.92[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.89[EUR][1000 genomes]
rs4656959	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4656964	0.84[EUR][1000 genomes]
rs4656971	0.80[MEX][hapmap]
rs6427550	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6427551	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6427552	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs6427553	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6658416	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6671490	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6691868	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6694415	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703406	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6704490	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7411035	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.80[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7414826	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7516660	0.96[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap]
rs7524351	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7532133	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7551697	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11265510	SPTA1	cis	parietal	SCAN
rs11265510	LMNA	cis	parietal	SCAN
rs11265510	RP11-312J18.6	cis	Thyroid	GTEx
rs11265510	NDUFS2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160855400-160860200	Weak transcription	Fetal Heart	heart
2	chr1:160859000-160859600	Weak transcription	Gastric	stomach

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