Variant report

Variant	rs1340691
Chromosome Location	chr1:76495745-76495746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10782605	0.80[EUR][1000 genomes]
rs10873865	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123144	0.87[CEU][hapmap]
rs12123760	0.86[CEU][hapmap]
rs12125940	0.83[EUR][1000 genomes]
rs12126074	0.83[EUR][1000 genomes]
rs12145522	0.83[EUR][1000 genomes]
rs1251476	0.86[AFR][1000 genomes]
rs1251484	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251485	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251486	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1251489	0.86[EUR][1000 genomes]
rs1251492	0.86[EUR][1000 genomes]
rs1251494	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1251495	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1251496	0.86[EUR][1000 genomes]
rs1251501	0.86[EUR][1000 genomes]
rs1251502	0.86[EUR][1000 genomes]
rs1251504	0.86[EUR][1000 genomes]
rs1251505	0.86[EUR][1000 genomes]
rs1251506	0.85[EUR][1000 genomes]
rs1251507	0.86[EUR][1000 genomes]
rs1251509	0.86[EUR][1000 genomes]
rs1251510	0.84[EUR][1000 genomes]
rs1251511	0.86[EUR][1000 genomes]
rs1251512	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1251513	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1251519	0.86[AFR][1000 genomes]
rs1251526	0.86[AFR][1000 genomes]
rs1251528	0.86[AFR][1000 genomes]
rs1266117	0.86[EUR][1000 genomes]
rs1340690	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17607383	0.86[EUR][1000 genomes]
rs17659615	0.85[EUR][1000 genomes]
rs1770895	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35318380	0.83[EUR][1000 genomes]
rs35381129	0.83[EUR][1000 genomes]
rs5022490	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60182743	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	esv2754129	chr1:76489579-76529279	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76489800-76502800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:76491800-76497400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:76492600-76503400	Weak transcription	Fetal Lung	lung
4	chr1:76495400-76495800	Enhancers	Primary monocytes fromperipheralblood	blood

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