Variant report

Variant	rs1251531
Chromosome Location	chr1:76469334-76469335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10732724	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10873804	0.82[CHB][hapmap]
rs10873863	0.88[CEU][hapmap]
rs11161887	0.81[JPT][hapmap]
rs11162053	0.90[ASN][1000 genomes]
rs11162066	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs12044211	0.82[CHB][hapmap]
rs12064158	0.90[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs12095069	0.90[ASN][1000 genomes]
rs12402347	0.87[ASN][1000 genomes]
rs12405994	0.87[ASN][1000 genomes]
rs12408897	0.87[ASN][1000 genomes]
rs12410373	0.82[CHB][hapmap]
rs12410724	0.90[ASN][1000 genomes]
rs1251539	0.90[ASN][1000 genomes]
rs1251550	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251551	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251556	0.90[ASN][1000 genomes]
rs1251560	0.91[ASN][1000 genomes]
rs1251579	0.82[ASN][1000 genomes]
rs1251580	0.82[ASN][1000 genomes]
rs1251581	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1251587	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1251588	0.82[ASN][1000 genomes]
rs1251591	0.81[ASN][1000 genomes]
rs1251594	0.81[ASN][1000 genomes]
rs12567390	0.85[CHB][hapmap]
rs12732495	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1340684	0.89[ASN][1000 genomes]
rs1361487	0.85[ASN][1000 genomes]
rs1417402	0.87[ASN][1000 genomes]
rs1438175	0.90[CHB][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs1438176	0.90[ASN][1000 genomes]
rs1498313	0.84[CEU][hapmap];0.91[CHD][hapmap]
rs1658737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1658739	0.91[CEU][hapmap]
rs1689271	0.96[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.97[TSI][hapmap]
rs17097681	0.80[JPT][hapmap]
rs17097695	0.80[CHB][hapmap];0.80[JPT][hapmap]
rs17097821	0.90[ASN][1000 genomes]
rs17097836	0.90[ASN][1000 genomes]
rs17097837	0.90[ASN][1000 genomes]
rs17097841	0.90[ASN][1000 genomes]
rs17097863	0.90[ASN][1000 genomes]
rs17097864	0.90[ASN][1000 genomes]
rs17097867	0.89[ASN][1000 genomes]
rs17649675	0.82[CHB][hapmap]
rs1770876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796799	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796812	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.97[TSI][hapmap];0.81[ASN][1000 genomes]
rs1890967	0.90[ASN][1000 genomes]
rs1938321	0.86[ASN][1000 genomes]
rs1938322	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938323	0.90[ASN][1000 genomes]
rs2066213	0.90[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2307077	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.97[TSI][hapmap]
rs2792664	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34574524	0.90[ASN][1000 genomes]
rs3795251	0.82[CHB][hapmap]
rs3920847	0.87[ASN][1000 genomes]
rs4949619	0.90[ASN][1000 genomes]
rs4949685	0.90[ASN][1000 genomes]
rs5745451	0.81[JPT][hapmap]
rs5745523	0.80[JPT][hapmap]
rs5745542	0.80[JPT][hapmap]
rs5745546	0.81[JPT][hapmap]
rs7418941	0.87[ASN][1000 genomes]
rs7524665	0.81[ASN][1000 genomes]
rs7545057	0.82[CHB][hapmap]
rs931506	0.84[CHB][hapmap];0.85[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1251531	MSH4	cis	Artery Tibial	GTEx
rs1251531	SNORD45B	cis	parietal	SCAN
rs1251531	SNORD45B	cis	cerebellum	SCAN
rs1251531	ACADM	cis	cerebellum	SCAN
rs1251531	MSH4	cis	parietal	SCAN
rs1251531	ACADM	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76467000-76476600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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