Variant report

Variant	rs514494
Chromosome Location	chr1:166765352-166765353
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs499528	0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs525075	0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs529243	1.00[AMR][1000 genomes]
rs542163	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555321	0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs564886	0.93[AFR][1000 genomes]
rs565810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs566924	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs572523	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577003	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577172	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577252	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577965	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs580312	1.00[YRI][hapmap]

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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv519275	chr1:166758542-166767050	Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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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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