Variant report

Variant	rs4706515
Chromosome Location	chr6:73578415-73578416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12211380	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1316976	0.84[CHB][hapmap]
rs2096182	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2211390	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2226137	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs3920868	0.92[CEU][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4374796	0.80[AMR][1000 genomes]
rs4591808	0.89[EUR][1000 genomes]
rs6453610	0.88[AMR][1000 genomes]
rs6903864	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6909572	0.88[ASW][hapmap];0.88[CEU][hapmap];0.84[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6929347	0.82[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes]
rs7744813	0.84[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs7755521	0.84[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.84[LWK][hapmap];0.90[MEX][hapmap];0.88[AMR][1000 genomes]
rs7758801	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7770776	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7770802	0.91[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7771181	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7775087	0.88[ASW][hapmap];0.84[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.84[LWK][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9293917	0.92[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes]
rs9342979	1.00[CHB][hapmap]
rs9342983	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9342984	0.81[ASW][hapmap];0.92[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9350475	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9351948	0.84[CHB][hapmap]
rs9351949	0.91[EUR][1000 genomes]
rs9351953	0.88[ASW][hapmap];0.88[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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	nsv830691	chr6:73530978-73743648	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv470834	chr6:73546750-73596605	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
3	nsv886155	chr6:73551937-73649330	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv886156	chr6:73578415-73603675	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4706515	DDX43	cis	lymphoblastoid	seeQTL
rs4706515	MYO6	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73572000-73590200	Weak transcription	GM12878-XiMat	blood
2	chr6:73572600-73583800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:73575800-73595400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:73576000-73579200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:73576600-73584400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:73578400-73584200	Weak transcription	Psoas Muscle	Psoas

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