Variant report

Variant	rs72839445
Chromosome Location	chr6:27249686-27249687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 12 )

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

rs_ID	r²[population]
rs13207082	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13212562	0.80[EUR][1000 genomes]
rs28360634	0.83[EUR][1000 genomes]
rs56114371	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56401801	0.89[EUR][1000 genomes]
rs67859638	0.90[AMR][1000 genomes]
rs71537559	0.87[EUR][1000 genomes]
rs72839477	0.90[AMR][1000 genomes];0.83[EUR][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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs72839445	BTN3A2	cis	Heart Left Ventricle	GTEx
rs72839445	BTN3A2	cis	Esophagus Mucosa	GTEx
rs72839445	BTN3A2	cis	Nerve Tibial	GTEx
rs72839445	BTN3A2	cis	Skin Sun Exposed Lower leg	GTEx
rs72839445	BTN3A2	cis	Muscle Skeletal	GTEx
rs72839445	BTN3A2	cis	Adipose Subcutaneous	GTEx
rs72839445	BTN3A2	cis	Whole Blood	GTEx
rs72839445	BTN3A2	cis	Esophagus Muscularis	GTEx
rs72839445	BTN3A2	cis	Thyroid	GTEx
rs72839445	BTN3A2	cis	Artery Tibial	GTEx
rs72839445	BTN3A2	cis	Artery Aorta	GTEx
rs72839445	BTN3A2	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27248600-27255800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:27249400-27250600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:27249400-27255200	Weak transcription	HMEC	breast
4	chr6:27249400-27255600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

Quick Search:

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

what's new

Quick links