Variant report

Variant	rs12493492
Chromosome Location	chr3:150196229-150196230
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11710084	0.85[AFR][1000 genomes]
rs41267883	0.81[ASN][1000 genomes]
rs4681621	0.84[ASN][1000 genomes]
rs57814195	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62269081	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[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	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150177000-150200600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:150179200-150201000	Weak transcription	Fetal Lung	lung
3	chr3:150187800-150201400	Weak transcription	HSMMtube	muscle
4	chr3:150188200-150197600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:150188200-150218800	Weak transcription	HSMM	muscle
6	chr3:150194600-150204800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:150196200-150196800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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