Variant report

Variant	rs2594284
Chromosome Location	chr4:87791181-87791182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10017360	0.89[ASN][1000 genomes]
rs10020861	0.95[CEU][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs11731586	0.89[ASN][1000 genomes]
rs11935015	0.89[ASN][1000 genomes]
rs11939730	0.89[ASN][1000 genomes]
rs12503661	0.89[ASN][1000 genomes]
rs12650500	0.85[AFR][1000 genomes]
rs13106349	0.91[EUR][1000 genomes]
rs13137142	0.83[ASN][1000 genomes]
rs13141097	0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs1374934	0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1374935	0.84[AFR][1000 genomes]
rs1550931	0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2594281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2594282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2594283	0.84[AFR][1000 genomes]
rs2705622	0.89[ASN][1000 genomes]
rs2705623	0.89[ASN][1000 genomes]
rs2705624	0.89[ASN][1000 genomes]
rs2705626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705627	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2922234	0.91[ASN][1000 genomes]
rs4508849	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4693788	0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4693789	0.89[ASN][1000 genomes]
rs55889191	0.86[AFR][1000 genomes]
rs56062410	0.85[AFR][1000 genomes]
rs56414102	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57477100	0.83[ASN][1000 genomes]
rs6531936	0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6531937	0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs73838351	0.83[ASN][1000 genomes]
rs7656537	0.81[ASN][1000 genomes]
rs7657443	1.00[JPT][hapmap]
rs7663218	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8180256	1.00[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9654158	0.91[CEU][hapmap];0.95[TSI][hapmap];0.91[EUR][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	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv967771	chr4:87781398-87798513	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2594284	COQ2	cis	parietal	SCAN
rs2594284	PTPN13	cis	parietal	SCAN
rs2594284	AFF1	cis	cerebellum	SCAN
rs2594284	PTPN13	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87779200-87798400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:87785000-87799400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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