Variant report

Variant	rs72885848
Chromosome Location	chr2:50135483-50135484
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10495986	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883523	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11889255	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11891368	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891766	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11902067	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17039371	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17039373	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17039375	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17039417	0.90[EUR][1000 genomes]
rs17437434	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2068489	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60174219	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72884138	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72884139	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72884161	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72884163	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72884167	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72884168	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72885826	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72885831	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72885847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72885850	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72885851	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7558063	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3457690	chr2:50134540-50135650	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
4	esv3457689	chr2:50134586-50135627	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
5	esv3457688	chr2:50134605-50135602	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
6	esv3457691	chr2:50134683-50135539	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	esv3457692	chr2:50134697-50135537	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
8	esv18429	chr2:50134719-50135515	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50131000-50137000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:50135200-50136800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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