Variant report

Variant	rs56387110
Chromosome Location	chr2:213384654-213384655
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10497975	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888697	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11892661	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12987104	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13000748	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13000920	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13027397	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1505370	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1505371	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1505377	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17259910	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17261653	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17262115	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325612	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17325821	0.82[AMR][1000 genomes]
rs17327185	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1921629	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1982717	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062929	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2062931	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34511581	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34947061	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35610945	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56102637	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62186292	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs979452	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs982075	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1008463	chr2:213356335-213388695	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv1014479	chr2:213370690-213413231	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213382600-213391800	Weak transcription	Brain Substantia Nigra	brain
2	chr2:213383600-213392200	Weak transcription	Aorta	Aorta
3	chr2:213383800-213388400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:213384400-213384800	Weak transcription	Fetal Heart	heart
5	chr2:213384400-213395400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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