Variant report

Variant	rs4930930
Chromosome Location	chr12:30664670-30664671
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:15)

rs_ID	r²[population]
rs10743722	0.85[ASN][1000 genomes]
rs10771739	0.84[ASN][1000 genomes]
rs10771740	0.91[ASN][1000 genomes]
rs11050931	0.88[ASN][1000 genomes]
rs11050936	0.92[ASN][1000 genomes]
rs12368517	0.90[ASN][1000 genomes]
rs1385343	0.84[ASN][1000 genomes]
rs1385344	0.84[ASN][1000 genomes]
rs17484785	0.82[AMR][1000 genomes]
rs1872364	0.83[ASN][1000 genomes]
rs1872365	0.83[ASN][1000 genomes]
rs4539409	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58793533	0.84[ASN][1000 genomes]
rs7296344	0.87[ASN][1000 genomes]
rs7300271	0.87[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	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	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	chr12:30662000-30668800	Weak transcription	Pancreas	Pancrea
2	chr12:30664400-30671400	Weak transcription	HepG2	liver

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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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