Variant report

Variant	rs72889504
Chromosome Location	chr2:50240456-50240457
allele	G/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:35)

rs_ID	r²[population]
rs11897655	1.00[AMR][1000 genomes]
rs58228125	1.00[AMR][1000 genomes]
rs59133746	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60693233	1.00[AMR][1000 genomes]
rs72874678	1.00[AMR][1000 genomes]
rs72874680	1.00[AMR][1000 genomes]
rs72874682	1.00[AMR][1000 genomes]
rs72878133	1.00[AMR][1000 genomes]
rs72878177	1.00[AMR][1000 genomes]
rs72881248	1.00[AMR][1000 genomes]
rs72881277	1.00[AMR][1000 genomes]
rs72881278	1.00[AMR][1000 genomes]
rs72884140	1.00[AMR][1000 genomes]
rs72884144	1.00[AMR][1000 genomes]
rs72885854	1.00[AMR][1000 genomes]
rs72885858	1.00[AMR][1000 genomes]
rs72885864	1.00[AMR][1000 genomes]
rs72885885	1.00[AMR][1000 genomes]
rs72885888	1.00[AMR][1000 genomes]
rs72885889	1.00[AMR][1000 genomes]
rs72885894	1.00[AMR][1000 genomes]
rs72885897	1.00[AMR][1000 genomes]
rs72885898	1.00[AMR][1000 genomes]
rs72887723	1.00[AMR][1000 genomes]
rs72887830	1.00[AMR][1000 genomes]
rs72887834	1.00[AMR][1000 genomes]
rs72887861	1.00[AMR][1000 genomes]
rs72887901	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72889507	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72889549	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72891409	1.00[AMR][1000 genomes]
rs72891421	1.00[AMR][1000 genomes]
rs72891431	1.00[AMR][1000 genomes]
rs72891432	1.00[AMR][1000 genomes]
rs72891470	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv874031	chr2:50202953-50243386	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	nsv581837	chr2:50230334-50268616	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1011144	chr2:50231111-50270096	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv915588	chr2:50235306-50268306	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50234200-50245600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:50237800-50245800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:50240000-50241200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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