Variant report

Variant	rs1251486
Chromosome Location	chr1:76520435-76520436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10443175	0.83[EUR][1000 genomes]
rs10782605	0.81[EUR][1000 genomes]
rs10873865	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12125940	0.83[EUR][1000 genomes]
rs12126074	0.83[EUR][1000 genomes]
rs12145522	0.83[EUR][1000 genomes]
rs1251484	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1251485	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1251489	0.99[EUR][1000 genomes]
rs1251492	0.98[EUR][1000 genomes]
rs1251494	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251495	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251496	0.98[EUR][1000 genomes]
rs1251501	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251502	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251504	0.98[EUR][1000 genomes]
rs1251505	0.98[EUR][1000 genomes]
rs1251506	0.98[EUR][1000 genomes]
rs1251507	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1251509	0.99[EUR][1000 genomes]
rs1251510	0.97[EUR][1000 genomes]
rs1251511	0.98[EUR][1000 genomes]
rs1251512	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251513	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1266117	0.98[EUR][1000 genomes]
rs1340690	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1340691	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17607383	0.94[EUR][1000 genomes]
rs17659615	0.93[EUR][1000 genomes]
rs1770895	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34354538	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35318380	0.83[EUR][1000 genomes]
rs35381129	0.83[EUR][1000 genomes]
rs5022490	0.82[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	chr1:76517600-76521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:76518400-76520600	Enhancers	Rectal Smooth Muscle	rectum
3	chr1:76519200-76521200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:76519200-76524600	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:76519200-76524600	Weak transcription	Brain Substantia Nigra	brain
6	chr1:76519400-76521200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:76519400-76521200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:76519400-76521200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:76519400-76521200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:76519400-76521600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:76519400-76524800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:76519600-76521200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:76519600-76524800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:76520000-76520600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:76520000-76521400	Weak transcription	Fetal Stomach	stomach

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