Variant report

Variant	rs2085275
Chromosome Location	chr11:18152415-18152416
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10444225	0.92[CEU][hapmap]
rs10500831	0.82[CHB][hapmap]
rs10741736	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10766453	0.83[EUR][1000 genomes]
rs10766457	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1079785	0.92[CEU][hapmap]
rs10832881	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11024462	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs11024467	0.84[EUR][1000 genomes]
rs11024469	0.84[EUR][1000 genomes]
rs11024470	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11024472	0.84[EUR][1000 genomes]
rs11024474	0.96[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs11024475	0.84[EUR][1000 genomes]
rs11024476	0.84[CHB][hapmap]
rs11024477	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11024478	0.82[CEU][hapmap];0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs11024480	0.84[EUR][1000 genomes]
rs11024482	0.82[CHB][hapmap]
rs11024487	0.85[EUR][1000 genomes]
rs11024488	0.85[EUR][1000 genomes]
rs11024491	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024492	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12360537	0.96[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes]
rs12364327	0.82[CHB][hapmap]
rs12365158	0.82[EUR][1000 genomes]
rs12365751	0.85[EUR][1000 genomes]
rs12417591	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417593	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1399025	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1824018	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1975777	0.82[CHB][hapmap]
rs1980096	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1980097	0.84[EUR][1000 genomes]
rs2124378	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271533	0.84[EUR][1000 genomes]
rs3741199	0.96[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs4052539	0.82[CHB][hapmap]
rs4287320	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4537731	0.92[CEU][hapmap]
rs4756930	0.96[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes]
rs4757613	0.85[EUR][1000 genomes]
rs56001925	0.84[EUR][1000 genomes]
rs61882529	0.85[EUR][1000 genomes]
rs6486403	0.92[CEU][hapmap]
rs6486406	0.92[JPT][hapmap]
rs7102017	0.84[EUR][1000 genomes]
rs7103885	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7104168	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7104856	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7106970	0.82[EUR][1000 genomes]
rs7113855	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7118250	0.85[EUR][1000 genomes]
rs7119063	0.96[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes]
rs7122118	0.96[CEU][hapmap]
rs7129345	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7130929	0.92[CEU][hapmap]
rs7131255	0.82[CHB][hapmap]
rs7931522	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7934091	0.83[CHB][hapmap]
rs7936469	0.83[EUR][1000 genomes]
rs7936878	0.84[EUR][1000 genomes]
rs7937368	0.92[CEU][hapmap]
rs7939791	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs7943526	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs7944348	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs7950928	0.92[CEU][hapmap]
rs871699	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs907922	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs964833	0.84[EUR][1000 genomes]
rs964834	0.96[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs964835	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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv982925	chr11:18132176-18153921	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv11709	chr11:18138662-18200717	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2085275	SAAL1	cis	Artery Tibial	GTEx
rs2085275	SAAL1	cis	lung	GTEx
rs2085275	SAAL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18150400-18156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18151800-18154200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:18152400-18154600	Enhancers	HepG2	liver

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