Variant report

Variant	rs57093790
Chromosome Location	chr5:100241983-100241984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:100240183..100242753-chr5:100246346..100248554,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs17161227	1.00[EUR][1000 genomes]
rs17161238	1.00[EUR][1000 genomes]
rs2548271	1.00[EUR][1000 genomes]
rs57030195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57051501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57165646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57408442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58460894	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58972341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59107693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59522996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61550483	1.00[EUR][1000 genomes]
rs6878351	1.00[EUR][1000 genomes]
rs6878887	1.00[EUR][1000 genomes]
rs6879241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157724	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159969	1.00[EUR][1000 genomes]
rs73159973	1.00[EUR][1000 genomes]
rs73159981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160425	1.00[EUR][1000 genomes]
rs73160500	1.00[EUR][1000 genomes]
rs73160501	1.00[EUR][1000 genomes]
rs73162260	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162263	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162293	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162409	1.00[EUR][1000 genomes]
rs73162427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73167380	0.89[AFR][1000 genomes];1.00[AMR][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	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	esv1834675	chr5:100143084-100535029	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv882471	chr5:100234439-100362071	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv882472	chr5:100234439-100512338	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:100232600-100245600	Active TSS	GM12878-XiMat	blood
2	chr5:100241200-100243200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:100241200-100244000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:100241400-100242000	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr5:100241400-100242800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr5:100241400-100243200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:100241600-100242600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr5:100241600-100244000	Flanking Active TSS	Dnd41	blood

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