Variant report

Variant	rs16830391
Chromosome Location	chr2:189591838-189591839
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10497693	1.00[AMR][1000 genomes]
rs16830367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830433	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830479	1.00[AMR][1000 genomes]
rs16830491	1.00[AMR][1000 genomes]
rs16830512	1.00[AMR][1000 genomes]
rs16830517	1.00[AMR][1000 genomes]
rs16830522	1.00[AMR][1000 genomes]
rs16830548	1.00[AMR][1000 genomes]
rs16830553	1.00[AMR][1000 genomes]
rs16830566	1.00[AMR][1000 genomes]
rs16830569	1.00[AMR][1000 genomes]
rs57540882	1.00[AMR][1000 genomes]
rs59204316	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60505235	0.83[AFR][1000 genomes]
rs73037423	1.00[AMR][1000 genomes]
rs73037433	1.00[AMR][1000 genomes]
rs73048243	1.00[AMR][1000 genomes]
rs73048244	1.00[AMR][1000 genomes]
rs73048252	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv1842768	chr2:189555506-189635696	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189588000-189592800	Weak transcription	Fetal Lung	lung
2	chr2:189590200-189592800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:189590400-189593000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:189590600-189592400	Enhancers	NH-A	brain
5	chr2:189590800-189592200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:189590800-189592400	Enhancers	NHEK	skin
7	chr2:189591200-189592200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:189591200-189592400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:189591200-189592400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:189591400-189592000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:189591400-189592800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:189591600-189592400	Enhancers	HSMMtube	muscle
13	chr2:189591800-189592200	Enhancers	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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