Variant report

Variant	rs73679526
Chromosome Location	chr8:50294939-50294940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs55710254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55786963	1.00[AMR][1000 genomes]
rs57326579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57519842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58739325	1.00[AFR][1000 genomes]
rs58855157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59078589	1.00[AFR][1000 genomes]
rs59130402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61660606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6651317	1.00[AMR][1000 genomes]
rs73675914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73675915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73675916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73675919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679294	0.89[AFR][1000 genomes]
rs73679295	0.89[AFR][1000 genomes]
rs73679296	0.89[AFR][1000 genomes]
rs73679300	0.89[AFR][1000 genomes]
rs73679505	0.89[AFR][1000 genomes]
rs73679518	1.00[AFR][1000 genomes]
rs73679524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679531	1.00[AMR][1000 genomes]
rs73679541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679570	1.00[AMR][1000 genomes]
rs73679571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679572	1.00[AMR][1000 genomes]
rs73679575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679746	1.00[AMR][1000 genomes]
rs73679747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73681607	1.00[AFR][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	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1034908	chr8:50023423-50416049	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv539601	chr8:50023423-50416049	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1024410	chr8:50037085-50511501	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv890857	chr8:50133485-50469764	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv917031	chr8:50207246-50709286	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv890858	chr8:50219675-50532935	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv890859	chr8:50253358-50359113	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50292400-50295000	Enhancers	Fetal Lung	lung
2	chr8:50293600-50295000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:50294000-50295000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:50294000-50295000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:50294000-50295000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:50294200-50295000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr8:50294800-50300400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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