Variant report

Variant	rs7308438
Chromosome Location	chr12:67725474-67725475
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4264226	1.00[AMR][1000 genomes]
rs73318862	1.00[AMR][1000 genomes]
rs73320722	1.00[AMR][1000 genomes]
rs73320740	1.00[AMR][1000 genomes]
rs73320770	1.00[AMR][1000 genomes]
rs73320773	1.00[AMR][1000 genomes]
rs73322620	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322624	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322626	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322688	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324544	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324548	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324553	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324554	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324565	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73326424	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv756	chr12:67703587-67744743	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67716600-67732000	Weak transcription	HMEC	breast
2	chr12:67716600-67748000	Weak transcription	HSMM	muscle
3	chr12:67717400-67731400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:67725000-67725600	Enhancers	Dnd41	blood

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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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