Variant report

Variant	rs2426520
Chromosome Location	chr20:53130018-53130019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16999732	1.00[EUR][1000 genomes]
rs2426521	1.00[EUR][1000 genomes]
rs56977264	1.00[EUR][1000 genomes]
rs57927391	1.00[EUR][1000 genomes]
rs6014025	1.00[EUR][1000 genomes]
rs60215168	1.00[EUR][1000 genomes]
rs6023260	1.00[EUR][1000 genomes]
rs6023271	1.00[EUR][1000 genomes]
rs6091884	1.00[EUR][1000 genomes]
rs6091909	1.00[EUR][1000 genomes]
rs6097991	1.00[EUR][1000 genomes]
rs6097995	1.00[EUR][1000 genomes]
rs61495423	1.00[EUR][1000 genomes]
rs62214388	1.00[EUR][1000 genomes]
rs793039	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53111200-53132400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr20:53115000-53130600	Weak transcription	Fetal Brain Female	brain
3	chr20:53118800-53132600	Weak transcription	NHDF-Ad	bronchial
4	chr20:53119600-53137000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr20:53120800-53148800	Weak transcription	Left Ventricle	heart
6	chr20:53127400-53130600	Weak transcription	Fetal Brain Male	brain
7	chr20:53127600-53130400	Weak transcription	Fetal Kidney	kidney
8	chr20:53127600-53130600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr20:53127800-53130600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr20:53127800-53130600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr20:53127800-53130800	Weak transcription	Brain Anterior Caudate	brain
12	chr20:53127800-53131000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr20:53127800-53132400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr20:53127800-53133000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr20:53128600-53130600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr20:53128600-53142800	Weak transcription	Psoas Muscle	Psoas
17	chr20:53129200-53130200	ZNF genes & repeats	HepG2	liver
18	chr20:53129600-53149200	Weak transcription	Aorta	Aorta
19	chr20:53129800-53130600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr20:53129800-53130600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr20:53129800-53132000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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