Variant report

Variant	rs6487916
Chromosome Location	chr12:30657464-30657465
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10771711	1.00[ASN][1000 genomes]
rs1354713	1.00[ASN][1000 genomes]
rs1506386	1.00[ASN][1000 genomes]
rs1506389	1.00[ASN][1000 genomes]
rs1506390	1.00[ASN][1000 genomes]
rs1506393	1.00[ASN][1000 genomes]
rs1553231	1.00[ASN][1000 genomes]
rs1588006	1.00[ASN][1000 genomes]
rs2133688	1.00[ASN][1000 genomes]
rs354098	1.00[ASN][1000 genomes]
rs4564414	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931336	1.00[ASN][1000 genomes]
rs6487917	1.00[ASN][1000 genomes]
rs7301701	1.00[ASN][1000 genomes]
rs7302894	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311808	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7958461	1.00[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	chr12:30653600-30657600	Weak transcription	Liver	Liver
2	chr12:30655400-30657800	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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