Variant report

Variant	rs2422273
Chromosome Location	chr1:173070517-173070518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10489271	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12401349	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12405785	0.90[AMR][1000 genomes]
rs12406059	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16828402	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16845400	1.00[ASN][1000 genomes]
rs16845403	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16845405	1.00[EUR][1000 genomes]
rs16845438	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16845442	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2207057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2207059	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3820653	0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4916206	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4916298	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4916303	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916305	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs714991	1.00[AMR][1000 genomes];1.00[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	nsv533953	chr1:172939335-173133255	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv946447	chr1:173067348-173071343	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173066400-173071800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:173066400-173072400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:173069800-173070600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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