Variant report

Variant	rs6550742
Chromosome Location	chr3:23226298-23226299
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1032501	0.88[YRI][hapmap]
rs1054048	0.86[ASN][1000 genomes]
rs13067024	0.83[ASN][1000 genomes]
rs17342904	0.92[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17405137	1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap]
rs28441035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28617316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28619078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34971719	0.83[ASN][1000 genomes]
rs4327331	0.82[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57909730	0.90[ASN][1000 genomes]
rs58033276	0.93[ASN][1000 genomes]
rs58659333	0.83[ASN][1000 genomes]
rs6774587	0.91[ASN][1000 genomes]
rs6774590	0.91[ASN][1000 genomes]
rs73033541	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73035699	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73037704	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73037723	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73037748	0.91[ASN][1000 genomes]
rs73039804	0.93[ASN][1000 genomes]
rs73050239	0.81[ASN][1000 genomes]
rs73050248	0.81[ASN][1000 genomes]
rs73050286	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73050291	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7619223	0.81[ASN][1000 genomes]
rs7640945	0.81[ASN][1000 genomes]
rs9817417	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9817740	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9822814	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9832445	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9859793	0.83[ASN][1000 genomes]
rs9870844	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999882	chr3:23121533-23257718	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv834636	chr3:23138653-23301443	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6550742	EFHB	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23225400-23227000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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