Variant report

Variant	rs4731210
Chromosome Location	chr7:124433364-124433365
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10230948	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10234698	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10241745	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10256073	0.87[CHB][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap]
rs10268290	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10280030	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1034794	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1034795	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10954061	1.00[ASW][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.88[YRI][hapmap]
rs11766412	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11767519	0.83[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.88[ASN][1000 genomes]
rs11768553	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11770818	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11772420	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11972411	0.88[ASN][1000 genomes]
rs12532038	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533661	0.88[ASN][1000 genomes]
rs12534967	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12534983	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12537983	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs12538061	0.85[ASN][1000 genomes]
rs12539481	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12706625	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12706627	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13222197	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13228358	0.85[ASN][1000 genomes]
rs1541417	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17147465	0.99[ASN][1000 genomes]
rs17147723	1.00[ASW][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.92[YRI][hapmap]
rs2101100	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2291207	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.85[YRI][hapmap];0.83[ASN][1000 genomes]
rs2299904	0.93[CHB][hapmap];0.81[ASN][1000 genomes]
rs2402754	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28730874	0.89[ASN][1000 genomes]
rs33964002	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34326887	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35423300	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35550222	0.94[ASN][1000 genomes]
rs4141073	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4141075	0.83[CEU][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs4360236	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4501522	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4639456	0.93[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs4728005	0.93[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs4728007	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60678110	0.85[ASN][1000 genomes]
rs62480260	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62480274	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6466951	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6466959	0.88[ASN][1000 genomes]
rs6943703	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6943797	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6945563	0.88[ASN][1000 genomes]
rs6946962	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6963885	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6968018	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs716991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782296	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7782351	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7784168	0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7784285	0.88[ASN][1000 genomes]
rs7787804	0.91[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7791488	0.92[YRI][hapmap]
rs7794637	0.87[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7795610	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7796751	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7801755	0.88[ASN][1000 genomes]
rs7804052	0.88[ASN][1000 genomes]
rs7806890	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9656320	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4731210	IMPDH1	cis	cerebellum	SCAN
rs4731210	IMPDH1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124431800-124433400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:124433000-124433600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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