Variant report

Variant	rs6472073
Chromosome Location	chr8:64001936-64001937
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63995378..63997013-chr8:63999187..64001966,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10112226	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031551	0.88[ASN][1000 genomes]
rs11545076	0.88[ASN][1000 genomes]
rs11545077	0.88[ASN][1000 genomes]
rs11775699	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11988534	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11989788	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12544045	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12547126	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13267266	0.88[ASN][1000 genomes]
rs1378526	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1800909	0.88[ASN][1000 genomes]
rs1963947	0.88[ASN][1000 genomes]
rs1963948	0.88[ASN][1000 genomes]
rs34169986	0.88[ASN][1000 genomes]
rs34231825	0.88[ASN][1000 genomes]
rs34264705	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34349258	0.86[ASN][1000 genomes]
rs34417501	0.91[ASN][1000 genomes]
rs34428496	0.88[ASN][1000 genomes]
rs34499912	0.88[ASN][1000 genomes]
rs34554414	0.88[ASN][1000 genomes]
rs34565227	0.88[ASN][1000 genomes]
rs34753538	0.88[ASN][1000 genomes]
rs35525331	0.88[ASN][1000 genomes]
rs35551451	0.86[ASN][1000 genomes]
rs35791650	0.88[ASN][1000 genomes]
rs35915855	0.86[ASN][1000 genomes]
rs35945381	0.88[ASN][1000 genomes]
rs3758149	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3780126	0.85[CEU][hapmap]
rs4289804	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4501570	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4587328	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4606052	0.82[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4625028	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737628	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739043	0.89[YRI][hapmap]
rs4739045	0.83[YRI][hapmap]
rs57403824	0.89[ASN][1000 genomes]
rs57800685	0.84[ASN][1000 genomes]
rs62510072	0.88[ASN][1000 genomes]
rs62510090	0.88[ASN][1000 genomes]
rs6472067	0.85[CEU][hapmap]
rs6472072	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472075	0.89[CEU][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs66666227	0.90[ASN][1000 genomes]
rs67742771	0.84[ASN][1000 genomes]
rs6994076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996325	0.89[CEU][hapmap]
rs7006471	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7386567	0.85[CEU][hapmap]
rs7823031	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9792158	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv465701	chr8:63951237-64080486	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv611448	chr8:63951237-64080486	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3373017	chr8:63989447-64014250	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3445521	chr8:63989447-64017270	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6472073	CLVS1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63999200-64002400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:63999200-64002800	Enhancers	Liver	Liver
3	chr8:64000400-64002600	Enhancers	Adipose Nuclei	Adipose
4	chr8:64001600-64002000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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