Variant report

Variant	rs293030
Chromosome Location	chr5:57963687-57963688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1158196	0.82[JPT][hapmap];0.85[AFR][1000 genomes]
rs12054892	0.81[JPT][hapmap]
rs12653046	0.86[JPT][hapmap]
rs149351	0.83[AFR][1000 genomes]
rs158986	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs158988	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs158991	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs158992	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs158994	0.89[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs158995	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs158998	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs158999	0.82[AFR][1000 genomes]
rs159001	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs159009	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1833613	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2591913	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2591921	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2591923	1.00[CHB][hapmap];0.96[JPT][hapmap];0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2662624	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs290572	0.82[AFR][1000 genomes]
rs290573	0.81[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap]
rs292994	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs292995	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap]
rs293004	0.80[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs293016	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs293017	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs293021	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs293024	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs293028	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs293031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs49960	0.81[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs58662773	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1029145	chr5:57905821-58141221	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830311	chr5:57912546-58105636	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv4845	chr5:57949493-57994156	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57961800-57967400	Enhancers	HUVEC	blood vessel
2	chr5:57962400-57964000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:57963400-57966400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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