Variant report

Variant	rs11523606
Chromosome Location	chr12:39193517-39193518
allele	C/T
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]
rs10876086	0.81[AMR][1000 genomes]
rs11169508	0.81[AMR][1000 genomes]
rs11169511	0.81[AMR][1000 genomes]
rs11169547	0.81[AMR][1000 genomes]
rs11169666	0.84[AMR][1000 genomes]
rs11514111	0.82[EUR][1000 genomes]
rs11523607	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11610376	0.81[AMR][1000 genomes]
rs11612004	0.84[AMR][1000 genomes]
rs1554550	0.84[AMR][1000 genomes]
rs1601579	0.81[AMR][1000 genomes]
rs1843639	0.81[AMR][1000 genomes]
rs3886109	0.81[AMR][1000 genomes]
rs7301104	0.81[AMR][1000 genomes]
rs7973992	0.81[AMR][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	nsv676	chr12:39184359-39215822	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
2	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39182600-39202800	Weak transcription	Liver	Liver
2	chr12:39184200-39205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:39193400-39193800	Active TSS	H9 Cell Line	embryonic stem cell

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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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