Variant report

Variant	rs1598163
Chromosome Location	chr2:55664121-55664122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10169185	1.00[CEU][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11125568	0.83[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs11125569	0.89[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs11125572	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs11695152	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12618795	0.83[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs1902057	0.82[GIH][hapmap]
rs1902061	0.85[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes]
rs2100454	0.95[ASN][1000 genomes]
rs2123983	0.82[GIH][hapmap];0.81[JPT][hapmap]
rs28501559	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2867194	0.82[GIH][hapmap];0.87[JPT][hapmap]
rs4233961	0.83[CHB][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4352263	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4481025	0.81[JPT][hapmap]
rs4672032	0.83[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs4672033	0.85[ASN][1000 genomes]
rs4672034	0.85[ASN][1000 genomes]
rs4672035	0.83[CHB][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];0.87[TSI][hapmap];0.85[ASN][1000 genomes]
rs4672036	0.81[JPT][hapmap]
rs4672037	0.81[JPT][hapmap]
rs4672038	0.81[JPT][hapmap]
rs4672040	0.88[GIH][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs4672045	1.00[CEU][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56225989	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6545489	0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs6545490	0.89[CHB][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs6545491	0.81[JPT][hapmap]
rs6709204	0.88[CHB][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs6720698	0.81[JPT][hapmap]
rs6724840	0.82[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs7559987	0.83[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs7579037	0.81[JPT][hapmap]
rs7586440	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs7595396	0.86[ASN][1000 genomes]
rs7601340	1.00[CEU][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv961778	chr2:55659501-55668562	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1598163	FLJ31438	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55664000-55664200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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