Variant report

Variant	rs1251511
Chromosome Location	chr1:76522769-76522770
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10443175	0.84[EUR][1000 genomes]
rs10873865	0.91[EUR][1000 genomes]
rs12123144	0.81[EUR][1000 genomes]
rs12125940	0.84[EUR][1000 genomes]
rs12126074	0.84[EUR][1000 genomes]
rs12127822	0.81[EUR][1000 genomes]
rs12145522	0.84[EUR][1000 genomes]
rs1251473	0.80[AFR][1000 genomes]
rs1251474	0.80[AFR][1000 genomes]
rs1251484	0.90[EUR][1000 genomes]
rs1251485	0.90[EUR][1000 genomes]
rs1251486	0.98[EUR][1000 genomes]
rs1251489	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251492	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251494	0.99[EUR][1000 genomes]
rs1251495	0.99[EUR][1000 genomes]
rs1251496	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251501	0.98[EUR][1000 genomes]
rs1251502	0.98[EUR][1000 genomes]
rs1251504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1251505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1251506	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1251507	0.98[EUR][1000 genomes]
rs1251509	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251510	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251512	0.98[EUR][1000 genomes]
rs1251513	0.98[EUR][1000 genomes]
rs1266117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1340690	0.90[EUR][1000 genomes]
rs1340691	0.86[EUR][1000 genomes]
rs17607383	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17659615	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1770895	0.87[EUR][1000 genomes]
rs34354538	0.88[EUR][1000 genomes]
rs35318380	0.84[EUR][1000 genomes]
rs35381129	0.84[EUR][1000 genomes]
rs5022490	0.95[EUR][1000 genomes]
rs60182743	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv947186	chr1:76512447-76530843	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1477	chr1:76515963-76534339	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76519200-76524600	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:76519200-76524600	Weak transcription	Brain Substantia Nigra	brain
3	chr1:76519400-76524800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:76519600-76524800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:76521800-76524800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:76521800-76531000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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