Variant report

Variant	rs72944654
Chromosome Location	chr1:86058556-86058557
allele	A/G
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:25)

rs_ID	r²[population]
rs56845363	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57279034	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60377914	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61616564	1.00[AMR][1000 genomes]
rs6682426	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944667	1.00[AMR][1000 genomes]
rs72944681	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944701	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946607	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946610	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946612	1.00[AMR][1000 genomes]
rs72946626	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946649	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946658	1.00[AMR][1000 genomes]
rs72946661	1.00[AMR][1000 genomes]
rs72946666	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946671	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946698	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948631	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948655	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948683	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948687	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950619	1.00[AMR][1000 genomes]
rs7517522	1.00[AFR][1000 genomes];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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86049000-86068400	Weak transcription	Psoas Muscle	Psoas
3	chr1:86051000-86062800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:86053800-86064600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:86053800-86071400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:86055000-86064800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:86055200-86064600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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