Variant report

Variant	rs11179050
Chromosome Location	chr12:72410079-72410080
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]
rs10879351	0.83[CHB][hapmap]
rs10879354	0.96[CEU][hapmap];0.87[GIH][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap]
rs10879355	0.84[CEU][hapmap];0.91[CHB][hapmap];0.98[GIH][hapmap];0.80[JPT][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10879357	0.91[CHB][hapmap];0.89[GIH][hapmap];0.80[JPT][hapmap];0.91[TSI][hapmap];0.85[ASN][1000 genomes]
rs10879358	0.83[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10879359	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11179039	0.82[CHB][hapmap]
rs11179049	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11179052	0.84[CEU][hapmap];0.91[CHB][hapmap];0.89[GIH][hapmap];0.89[TSI][hapmap]
rs11179055	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11179057	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11179058	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11179059	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1352250	0.83[CHB][hapmap]
rs1386482	0.84[CEU][hapmap];0.91[CHB][hapmap];0.80[JPT][hapmap]
rs1386483	0.84[CEU][hapmap];0.91[CHB][hapmap];0.98[GIH][hapmap];0.80[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap]
rs1386485	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap]
rs1386486	0.84[CEU][hapmap];0.91[CHB][hapmap];0.80[JPT][hapmap]
rs1487279	0.82[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1487280	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2200579	0.91[CHB][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4290270	0.84[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4430554	0.84[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4469933	0.84[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4474484	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4488237	0.84[CEU][hapmap];0.91[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4503586	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4573728	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4573729	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][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	nsv518498	chr12:72307616-72508779	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1054578	chr12:72307616-72509341	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv899256	chr12:72409548-72499323	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11179050	HELB	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72406200-72410600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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