Variant report

Variant	rs13048478
Chromosome Location	chr21:46076751-46076752
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10854464	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11088958	0.90[ASN][1000 genomes]
rs11700616	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11911323	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12482870	0.85[JPT][hapmap]
rs12483360	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12626853	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13046471	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13049382	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13051885	0.90[JPT][hapmap]
rs13052189	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13052715	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329844	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329845	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838612	0.89[JPT][hapmap]
rs2838613	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838622	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838634	0.88[JPT][hapmap]
rs28735609	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4050979	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs4818947	0.84[JPT][hapmap]
rs4818950	0.80[JPT][hapmap]
rs7276859	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7509675	0.89[JPT][hapmap]
rs8126811	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8129802	0.85[JPT][hapmap]
rs8130076	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9284507	0.85[JPT][hapmap]
rs9967974	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9984686	0.82[EUR][1000 genomes];0.93[ASN][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	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46073200-46076800	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr21:46073200-46076800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr21:46073600-46079800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr21:46073600-46080200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr21:46075400-46077200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
6	chr21:46076200-46077600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr21:46076400-46077000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
8	chr21:46076600-46077400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr21:46076600-46077400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr21:46076600-46077800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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