Variant report

Variant	rs72746086
Chromosome Location	chr1:221567746-221567747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10465658	0.86[EUR][1000 genomes]
rs10495176	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562069	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12563088	0.86[AMR][1000 genomes]
rs1380251	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009966	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56245908	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72730814	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730815	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730817	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730821	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72730823	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72746084	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746087	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9726422	0.86[EUR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221564600-221567800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:221564800-221568000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:221565200-221567800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:221565200-221567800	Enhancers	Adipose Nuclei	Adipose
5	chr1:221565400-221568200	Enhancers	Osteobl	bone
6	chr1:221565400-221568400	Enhancers	HUVEC	blood vessel
7	chr1:221565600-221568200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:221565600-221568200	Enhancers	NHDF-Ad	bronchial
9	chr1:221566200-221570600	Weak transcription	HMEC	breast
10	chr1:221566600-221570600	Weak transcription	NHEK	skin
11	chr1:221566800-221567800	Enhancers	Fetal Lung	lung
12	chr1:221566800-221568000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:221567000-221567800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:221567000-221568000	Enhancers	NH-A	brain
15	chr1:221567200-221567800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:221567200-221568000	Enhancers	NHLF	lung
17	chr1:221567200-221571400	Enhancers	Hela-S3	cervix
18	chr1:221567400-221568200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:221567600-221568000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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