Variant report

Variant	rs206650
Chromosome Location	chr20:41573032-41573033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11905598	0.91[AMR][1000 genomes]
rs11907635	0.91[AMR][1000 genomes]
rs11907965	0.91[AMR][1000 genomes]
rs11908081	0.91[AMR][1000 genomes]
rs206651	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs206652	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs206654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273613	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273614	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273615	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273618	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273619	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273624	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73273629	0.91[AMR][1000 genomes]
rs73273631	0.91[AMR][1000 genomes]
rs73273632	0.91[AMR][1000 genomes]
rs73907429	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063450	chr20:41409901-41880620	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1060690	chr20:41413369-41851935	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1066088	chr20:41417205-42060036	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1060468	chr20:41518010-41700012	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1061053	chr20:41521471-41704874	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41560200-41577400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr20:41566000-41578000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:41571800-41573200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:41572400-41575800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr20:41572800-41574600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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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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