Variant report

Variant	rs12406684
Chromosome Location	chr1:217451043-217451044
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1032603	0.81[ASN][1000 genomes]
rs1072681	0.81[ASN][1000 genomes]
rs11117829	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11117844	0.95[ASN][1000 genomes]
rs11586244	0.80[ASN][1000 genomes]
rs11588002	0.80[ASN][1000 genomes]
rs12074270	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12096476	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12401427	0.86[ASN][1000 genomes]
rs12407373	0.86[ASN][1000 genomes]
rs17045466	0.85[EUR][1000 genomes]
rs2014326	0.86[ASN][1000 genomes]
rs4846820	0.86[EUR][1000 genomes]
rs6682416	0.87[EUR][1000 genomes]
rs7527574	0.85[EUR][1000 genomes]
rs7549926	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs904217	0.81[ASN][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	nsv549207	chr1:217333272-217455903	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2762164	chr1:217389951-217742750	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217449400-217451400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:217450000-217451400	Weak transcription	NHLF	lung
3	chr1:217450200-217451200	Weak transcription	HSMM	muscle
4	chr1:217451000-217452200	Enhancers	Muscle Satellite Cultured Cells	--

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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