Variant report

Variant	rs2424420
Chromosome Location	chr20:21963048-21963049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1535203	0.83[EUR][1000 genomes]
rs201546	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224260	0.81[EUR][1000 genomes]
rs2224367	0.81[EUR][1000 genomes]
rs2328640	0.81[EUR][1000 genomes]
rs2424408	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2424422	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6047654	0.81[EUR][1000 genomes]
rs6047657	0.81[EUR][1000 genomes]
rs6047741	0.82[EUR][1000 genomes]
rs7263348	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv585716	chr20:21906780-21967950	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21957600-21976600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:21961400-21964400	Enhancers	HSMM	muscle
3	chr20:21961600-21963600	Enhancers	NHDF-Ad	bronchial
4	chr20:21961600-21963800	Enhancers	Liver	Liver
5	chr20:21961800-21963400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr20:21962000-21963400	Enhancers	HSMMtube	muscle
7	chr20:21962400-21963600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr20:21962600-21964200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr20:21962600-21964600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr20:21962600-21965000	Enhancers	Osteobl	bone
11	chr20:21963000-21963400	Enhancers	Adipose Nuclei	Adipose
12	chr20:21963000-21963600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:21963000-21963600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr20:21963000-21963600	Enhancers	NH-A	brain
15	chr20:21963000-21963800	Enhancers	HepG2	liver

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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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