Variant report

Variant	rs1251494
Chromosome Location	chr1:76517472-76517473
allele	G/T
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:37)

rs_ID	r²[population]
rs10443175	0.83[EUR][1000 genomes]
rs10782605	0.81[EUR][1000 genomes]
rs10873865	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12123144	0.96[CEU][hapmap]
rs12123760	0.95[CEU][hapmap]
rs12125940	0.83[EUR][1000 genomes]
rs12126074	0.83[EUR][1000 genomes]
rs12145522	0.83[EUR][1000 genomes]
rs1251484	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1251485	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1251486	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251489	0.98[EUR][1000 genomes]
rs1251492	0.99[EUR][1000 genomes]
rs1251495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251496	0.99[EUR][1000 genomes]
rs1251501	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1251502	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1251504	0.99[EUR][1000 genomes]
rs1251505	0.99[EUR][1000 genomes]
rs1251506	0.97[EUR][1000 genomes]
rs1251507	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1251509	0.98[EUR][1000 genomes]
rs1251510	0.96[EUR][1000 genomes]
rs1251511	0.99[EUR][1000 genomes]
rs1251512	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251513	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1266117	0.99[EUR][1000 genomes]
rs1340690	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1340691	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17607383	0.95[EUR][1000 genomes]
rs17659615	0.94[EUR][1000 genomes]
rs1770895	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34354538	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35318380	0.83[EUR][1000 genomes]
rs35381129	0.83[EUR][1000 genomes]
rs5022490	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60182743	0.83[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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76514200-76518600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:76514400-76517800	Weak transcription	Fetal Stomach	stomach
3	chr1:76514400-76518600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:76515000-76518600	Weak transcription	Fetal Lung	lung
5	chr1:76515200-76518000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:76515200-76518200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:76515200-76518200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:76515200-76519000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:76515400-76518000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:76515400-76518400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:76515400-76518600	Weak transcription	Fetal Brain Male	brain
12	chr1:76517200-76517600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:76517200-76518400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:76517200-76519000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:76517400-76517800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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