Variant report

Variant	rs59014318
Chromosome Location	chr12:104559777-104559778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11111920	0.82[ASN][1000 genomes]
rs11610133	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610541	0.93[ASN][1000 genomes]
rs11610612	0.91[ASN][1000 genomes]
rs12304631	0.82[ASN][1000 genomes]
rs12317467	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17035279	0.97[ASN][1000 genomes]
rs17035291	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3765111	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4255604	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4338595	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4964251	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104533000-104560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:104558400-104560600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:104558800-104560600	Enhancers	Left Ventricle	heart
4	chr12:104559000-104560600	Enhancers	Right Atrium	heart
5	chr12:104559000-104560600	Enhancers	Right Ventricle	heart
6	chr12:104559200-104560200	Enhancers	Adipose Nuclei	Adipose
7	chr12:104559200-104563800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:104559400-104560200	Enhancers	HUVEC	blood vessel
9	chr12:104559400-104560600	Enhancers	Spleen	Spleen

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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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