Variant report

Variant	rs293004
Chromosome Location	chr5:58022858-58022859
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58022097..58023766-chr5:58024865..58027239,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1158196	0.80[JPT][hapmap]
rs12054892	0.80[JPT][hapmap]
rs12653046	0.85[JPT][hapmap]
rs158986	0.84[ASW][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158988	0.91[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs158991	0.87[ASN][1000 genomes]
rs158992	0.91[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs158994	0.80[CHB][hapmap];0.86[ASN][1000 genomes]
rs158995	0.87[ASN][1000 genomes]
rs158998	0.91[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.88[ASN][1000 genomes]
rs159001	0.90[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs159009	0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs1833613	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2591913	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs2591921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2591923	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2662624	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs290573	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs292994	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs292995	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs293005	0.93[LWK][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs293016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293017	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293021	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293024	0.87[ASN][1000 genomes]
rs293025	1.00[LWK][hapmap];0.84[MKK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs293026	0.88[AFR][1000 genomes]
rs293028	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293030	0.80[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs293031	0.81[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs49960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898044	0.80[JPT][hapmap]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs293004	MAP3K1	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58022200-58024600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:58022800-58029000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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