Variant report

Variant	rs4494328
Chromosome Location	chr11:5374355-5374356
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10837945	0.91[EUR][1000 genomes]
rs11037097	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12360876	0.90[ASW][hapmap];0.87[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1473547	0.89[JPT][hapmap]
rs1532514	0.90[JPT][hapmap]
rs2340327	0.94[JPT][hapmap]
rs2471983	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2471984	0.95[EUR][1000 genomes]
rs2471991	0.81[ASW][hapmap]
rs2647545	0.87[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2647547	0.95[JPT][hapmap]
rs2647548	0.95[JPT][hapmap]
rs2647550	0.95[JPT][hapmap]
rs2647551	0.95[JPT][hapmap]
rs2647552	0.95[JPT][hapmap]
rs2647555	0.95[JPT][hapmap]
rs2647556	0.95[JPT][hapmap]
rs2647579	0.81[ASW][hapmap]
rs2647611	0.95[EUR][1000 genomes]
rs2723375	0.95[JPT][hapmap]
rs2736537	1.00[ASW][hapmap];0.87[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2736538	0.95[JPT][hapmap]
rs2736539	0.95[JPT][hapmap]
rs2736540	0.95[JPT][hapmap]
rs2736541	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2736544	0.87[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2736546	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2736549	0.87[CEU][hapmap];0.95[EUR][1000 genomes]
rs2736551	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4301813	0.90[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6421052	0.83[JPT][hapmap]
rs7479727	0.94[JPT][hapmap]
rs951747	0.94[JPT][hapmap]
rs9734220	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524400	chr11:5328361-5416622	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
3	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv896931	chr11:5357881-5505149	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv18780	chr11:5372010-5384809	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1829102	chr11:5373646-5383453	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
7	esv1828484	chr11:5374268-5386668	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1829886	chr11:5374268-5386668	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4494328	DNHD1	cis	parietal	SCAN
rs4494328	HBE1	cis	parietal	SCAN
rs4494328	ART1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5365600-5382600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:5370200-5376000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:5373000-5376800	Strong transcription	K562	blood

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