Variant report

Variant	rs73893220
Chromosome Location	chr21:17548773-17548774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58558420	1.00[AMR][1000 genomes]
rs59959559	1.00[AMR][1000 genomes]
rs73893154	1.00[AMR][1000 genomes]
rs73893215	1.00[AMR][1000 genomes]
rs73893221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893236	1.00[AFR][1000 genomes]
rs73893237	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1065028	chr21:17522588-17572535	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17527200-17553000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:17543200-17551200	Weak transcription	A549	lung
3	chr21:17543400-17552600	Weak transcription	Brain Anterior Caudate	brain
4	chr21:17543400-17553000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr21:17548200-17549200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr21:17548200-17549200	Enhancers	Ovary	ovary
7	chr21:17548400-17548800	Enhancers	Brain Cingulate Gyrus	brain
8	chr21:17548600-17549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:17548600-17549800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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