Variant report

Variant	rs16830522
Chromosome Location	chr2:189642174-189642175
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10497693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830367	1.00[AMR][1000 genomes]
rs16830384	1.00[AMR][1000 genomes]
rs16830391	1.00[AMR][1000 genomes]
rs16830433	1.00[AMR][1000 genomes]
rs16830479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830512	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57540882	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59204316	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037423	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73048243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73048244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73048252	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000932	chr2:189542210-189677277	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536088	chr2:189542210-189677277	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875606	chr2:189579045-189688463	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875607	chr2:189579045-189711790	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:189631600-189650000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:189640600-189642400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:189640600-189642400	Enhancers	NHDF-Ad	bronchial
4	chr2:189640800-189642400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:189641000-189649000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:189641800-189642400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:189641800-189643000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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