Variant report

Variant	rs2357430
Chromosome Location	chr1:210357137-210357138
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1014370	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119426	0.87[AMR][1000 genomes]
rs11119430	0.82[AMR][1000 genomes]
rs11119432	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11119436	0.90[EUR][1000 genomes]
rs11119437	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11119438	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11812030	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12045428	0.85[AMR][1000 genomes]
rs4844515	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4844953	0.85[AMR][1000 genomes]
rs4844973	0.93[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs55976039	0.84[AMR][1000 genomes]
rs6695990	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6701631	0.81[CHB][hapmap];0.85[AMR][1000 genomes]
rs7543674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210339400-210361200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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