Variant report

Variant	rs73280802
Chromosome Location	chr12:46708993-46708994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs7311450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280714	0.84[AFR][1000 genomes]
rs73280725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280729	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280732	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280735	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282505	1.00[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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 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	chr12:46704000-46711000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:46707600-46711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:46708800-46711800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:46708800-46736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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