Variant report

Variant	rs73279227
Chromosome Location	chr12:30619784-30619785
allele	A/G
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:14)

rs_ID	r²[population]
rs1018172	0.93[EUR][1000 genomes]
rs11835490	0.85[EUR][1000 genomes]
rs11835968	0.90[EUR][1000 genomes]
rs1965354	0.93[EUR][1000 genomes]
rs2220170	0.85[EUR][1000 genomes]
rs58828426	0.86[EUR][1000 genomes]
rs59222301	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs60324840	0.96[EUR][1000 genomes]
rs7295452	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7309540	0.96[EUR][1000 genomes]
rs73279250	0.96[EUR][1000 genomes]
rs74085562	0.85[EUR][1000 genomes]
rs7973001	0.96[EUR][1000 genomes]
rs7979005	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1045252	chr12:30583170-30621743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1050233	chr12:30590071-30670919	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:30618800-30620200	Enhancers	Fetal Brain Male	brain
2	chr12:30618800-30620200	Enhancers	Fetal Brain Female	brain

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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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