Variant report

Variant	rs12482683
Chromosome Location	chr21:16727045-16727046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10482870	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11088369	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12482774	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12482907	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12626331	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12626910	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626947	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12626957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16982373	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16982386	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2178904	1.00[CHB][hapmap]
rs2823240	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823241	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823243	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823244	0.81[ASN][1000 genomes]
rs60134772	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61096028	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61481480	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7283670	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8127167	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8130757	1.00[EUR][1000 genomes];0.97[ASN][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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1812556	chr21:16690063-16736368	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv834049	chr21:16717421-16905300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16725200-16738200	Weak transcription	HepG2	liver
2	chr21:16725600-16728600	Enhancers	HUVEC	blood vessel
3	chr21:16725800-16728000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:16726600-16727600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr21:16726800-16727600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr21:16726800-16727600	Enhancers	Fetal Stomach	stomach
7	chr21:16726800-16727800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:16727000-16727800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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