Variant report

Variant	rs56153402
Chromosome Location	chr2:72543925-72543926
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:8)

rs_ID	r²[population]
rs11681845	0.86[EUR][1000 genomes]
rs11689475	1.00[AFR][1000 genomes]
rs56302716	0.93[EUR][1000 genomes]
rs6758324	0.86[EUR][1000 genomes]
rs72835256	0.91[AMR][1000 genomes]
rs72841783	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72841784	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72845103	1.00[AFR][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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:72524600-72552800	Weak transcription	Left Ventricle	heart
2	chr2:72531200-72594800	Weak transcription	Esophagus	oesophagus
3	chr2:72535200-72544200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:72537200-72567800	Weak transcription	Ovary	ovary
5	chr2:72538600-72553400	Weak transcription	Aorta	Aorta
6	chr2:72538600-72567800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:72541600-72561400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:72543600-72544000	Enhancers	Brain Hippocampus Middle	brain
9	chr2:72543800-72545200	Enhancers	Fetal Heart	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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