Variant report

Variant	rs12991316
Chromosome Location	chr2:12115306-12115307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10803741	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11694407	0.89[ASN][1000 genomes]
rs11695533	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13003327	0.87[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13003710	0.84[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13011455	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13015144	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13019206	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13020034	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2033873	0.81[AMR][1000 genomes]
rs4669792	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12111000-12116000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:12114800-12116000	ZNF genes & repeats	GM12878-XiMat	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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