Variant report

Variant	rs972470
Chromosome Location	chr2:189742310-189742311
allele	A/G
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:21)

rs_ID	r²[population]
rs10048793	0.98[AFR][1000 genomes]
rs10177387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10185102	0.95[AFR][1000 genomes]
rs10194182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10196959	0.85[AFR][1000 genomes]
rs10207990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13397537	0.98[AFR][1000 genomes]
rs13410823	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56934493	0.98[AFR][1000 genomes]
rs6434300	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6709783	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6710225	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6746832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6752196	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6760322	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7566920	0.98[AFR][1000 genomes]
rs7593672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7593834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7603795	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7607507	0.98[AFR][1000 genomes]
rs9288161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv834490	chr2:189703550-189840963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189737200-189743200	Weak transcription	Fetal Lung	lung
2	chr2:189739000-189755600	Weak transcription	Aorta	Aorta

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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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