Variant report

Variant	rs7273118
Chromosome Location	chr20:53148842-53148843
allele	A/G
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]
rs6023335	1.00[AMR][1000 genomes]
rs6023337	1.00[AMR][1000 genomes]
rs6023338	1.00[AMR][1000 genomes]
rs6098042	1.00[AMR][1000 genomes]
rs6098136	1.00[AMR][1000 genomes]
rs7264429	1.00[AMR][1000 genomes]
rs7266661	1.00[AMR][1000 genomes]
rs7271301	1.00[AMR][1000 genomes]
rs7273785	1.00[AMR][1000 genomes]
rs8118579	1.00[AMR][1000 genomes]
rs8119956	1.00[AMR][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	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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53129600-53149200	Weak transcription	Aorta	Aorta
2	chr20:53147800-53149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr20:53148400-53149000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr20:53148600-53149600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr20:53148600-53150000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr20:53148800-53149000	Enhancers	Fetal Brain Female	brain
7	chr20:53148800-53149200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr20:53148800-53149400	Enhancers	Adipose Nuclei	Adipose
9	chr20:53148800-53149400	Enhancers	Brain Anterior Caudate	brain
10	chr20:53148800-53149400	Enhancers	Left Ventricle	heart

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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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