Variant report

Variant	rs8123123
Chromosome Location	chr20:24745478-24745479
allele	C/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:33)

rs_ID	r²[population]
rs1109682	0.88[AFR][1000 genomes]
rs56888172	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57470115	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57844623	1.00[AMR][1000 genomes]
rs57923170	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58149951	0.89[AMR][1000 genomes]
rs58679653	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs59254947	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60419449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6106949	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6114859	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6114863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6114867	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6114869	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6114871	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6114872	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6114874	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs61190938	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7260865	1.00[AMR][1000 genomes]
rs73331358	1.00[AMR][1000 genomes]
rs73333424	0.81[AFR][1000 genomes]
rs73333459	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333468	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333473	0.81[AFR][1000 genomes]
rs73333486	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333500	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335424	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73335427	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73335453	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7360504	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8116690	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs8123361	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs911173	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1061412	chr20:24629468-24887869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv544216	chr20:24629468-24887869	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061281	chr20:24711635-24815107	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv544217	chr20:24711635-24815107	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv912825	chr20:24715544-24813345	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1061455	chr20:24733120-24861801	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv544218	chr20:24733120-24861801	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1059270	chr20:24741923-24787243	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24742800-24748800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:24744200-24746200	Weak transcription	Primary B cells from cord blood	blood
3	chr20:24744400-24751400	Weak transcription	Thymus	Thymus
4	chr20:24744600-24746200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr20:24744600-24748400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr20:24744600-24748400	Weak transcription	Fetal Thymus	thymus
7	chr20:24744600-24749000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:24745200-24746200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr20:24745400-24745600	Enhancers	Fetal Muscle Leg	muscle
10	chr20:24745400-24746000	Bivalent Enhancer	Fetal Stomach	stomach
11	chr20:24745400-24755600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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