Variant report

Variant	rs16830657
Chromosome Location	chr2:189682074-189682075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10172458	0.84[AMR][1000 genomes]
rs10497682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1084170	0.84[EUR][1000 genomes]
rs11693891	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs11901190	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1524377	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs16830514	0.81[EUR][1000 genomes]
rs16830658	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs2675399	0.82[AFR][1000 genomes]
rs2690759	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690761	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2690762	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2708196	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2708198	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2708200	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58547931	0.97[EUR][1000 genomes]
rs6726558	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs6745069	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745091	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs698573	0.84[AMR][1000 genomes]
rs7607418	0.84[AMR][1000 genomes]
rs7609094	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs781234	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs781236	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs781237	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs781248	0.81[EUR][1000 genomes]
rs781253	0.81[EUR][1000 genomes]
rs781263	0.93[EUR][1000 genomes]
rs781275	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs781277	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs781279	0.97[EUR][1000 genomes]
rs781280	0.88[YRI][hapmap]
rs781281	0.97[EUR][1000 genomes]
rs781283	0.88[YRI][hapmap];0.97[EUR][1000 genomes]
rs781284	0.97[EUR][1000 genomes]
rs781286	0.97[EUR][1000 genomes]
rs781287	0.97[EUR][1000 genomes]
rs781288	0.97[EUR][1000 genomes]
rs940461	0.96[AMR][1000 genomes];1.00[EUR][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	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	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
3	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
4	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
5	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
6	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
7	esv3369864	chr2:189679107-189683905	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189677800-189683400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:189679200-189684400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:189679600-189683800	Weak transcription	Osteobl	bone

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