Variant report

Variant	rs62214427
Chromosome Location	chr20:53186417-53186418
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10485784	0.94[EUR][1000 genomes]
rs17327539	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55705559	0.82[EUR][1000 genomes]
rs55960128	0.94[EUR][1000 genomes]
rs56138015	0.82[EUR][1000 genomes]
rs56294816	0.82[EUR][1000 genomes]
rs56371656	0.92[EUR][1000 genomes]
rs6023382	0.92[EUR][1000 genomes]
rs6023383	0.92[EUR][1000 genomes]
rs6098093	0.96[EUR][1000 genomes]
rs6098099	0.90[EUR][1000 genomes]
rs6098104	0.82[EUR][1000 genomes]
rs6098111	0.80[EUR][1000 genomes]
rs62214433	0.81[EUR][1000 genomes]
rs67907005	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73140147	0.94[EUR][1000 genomes]
rs73142922	1.00[AFR][1000 genomes]
rs73142925	1.00[AFR][1000 genomes]
rs73144063	0.84[EUR][1000 genomes]
rs73144072	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73144079	0.82[EUR][1000 genomes]
rs73144086	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv1067497	chr20:53146241-53751820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv1064144	chr20:53175264-53750137	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv544302	chr20:53175264-53750137	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53167800-53189200	Weak transcription	Aorta	Aorta
2	chr20:53171200-53187800	Weak transcription	Fetal Muscle Leg	muscle
3	chr20:53171600-53186800	Weak transcription	Brain Anterior Caudate	brain
4	chr20:53179800-53190200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr20:53181800-53187000	Weak transcription	Brain Germinal Matrix	brain
6	chr20:53182200-53188000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr20:53182800-53189400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr20:53185800-53192600	Enhancers	Fetal Brain Male	brain
9	chr20:53186000-53186600	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr20:53186200-53188800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr20:53186400-53186800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr20:53186400-53187000	Weak transcription	Fetal Brain Female	brain

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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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