Variant report

Variant	rs12308447
Chromosome Location	chr12:40559034-40559035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11174688	0.83[YRI][hapmap]
rs11175139	0.84[YRI][hapmap]
rs11175629	0.84[YRI][hapmap]
rs11175659	0.82[AFR][1000 genomes]
rs11175663	0.84[YRI][hapmap]
rs12296317	0.88[AFR][1000 genomes]
rs12296596	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs12296964	0.97[AFR][1000 genomes]
rs12300008	0.84[YRI][hapmap]
rs12304648	0.86[AFR][1000 genomes]
rs12306744	0.97[AFR][1000 genomes]
rs12307850	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12312800	1.00[AFR][1000 genomes]
rs12313568	0.84[YRI][hapmap]
rs12314745	0.84[YRI][hapmap]
rs17489951	0.86[AFR][1000 genomes]
rs17490300	0.88[AFR][1000 genomes]
rs28370644	0.84[YRI][hapmap]
rs7132755	0.84[YRI][hapmap]
rs7135556	0.86[AFR][1000 genomes]
rs7309328	0.83[YRI][hapmap]
rs7358651	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	esv3398206	chr12:40556364-40581392	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40557400-40564600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40558600-40559400	Enhancers	Liver	Liver

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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