Variant report

Variant	rs2057043
Chromosome Location	chr1:192858325-192858326
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs3845559	0.86[ASW][hapmap]
rs60733376	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428138	0.89[AMR][1000 genomes]
rs6661721	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662006	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73064109	0.89[AMR][1000 genomes]
rs7523033	1.00[MEX][hapmap]
rs7534357	0.89[AMR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 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	chr1:192843800-192861800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:192856200-192858400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr1:192857400-192860600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:192857600-192858800	Enhancers	Primary neutrophils fromperipheralblood	blood

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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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