Variant report

Variant	rs72945020
Chromosome Location	chr2:212530514-212530515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10166540	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10174084	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13405349	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13410206	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13418752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13423577	0.86[EUR][1000 genomes]
rs28593530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6719664	0.99[EUR][1000 genomes]
rs72945016	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72945021	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72945023	1.00[AMR][1000 genomes];1.00[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	esv2754366	chr2:212470494-212541494	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
2	nsv460070	chr2:212492764-212541377	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
3	nsv584322	chr2:212492764-212541377	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
4	nsv875783	chr2:212530466-212564895	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212467400-212546800	Weak transcription	Aorta	Aorta
2	chr2:212521200-212540400	Weak transcription	Fetal Heart	heart
3	chr2:212521400-212540800	Weak transcription	Fetal Kidney	kidney
4	chr2:212522800-212537800	Weak transcription	Pancreas	Pancrea
5	chr2:212528800-212545200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:212529600-212533800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:212530000-212530600	Flanking Active TSS	Dnd41	blood
8	chr2:212530200-212546800	Weak transcription	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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