Variant report

Variant	rs72686415
Chromosome Location	chr1:45711952-45711953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45705359..45708698-chr1:45708839..45712557,3	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10157175	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10157807	0.95[ASN][1000 genomes]
rs1152028	0.93[EUR][1000 genomes]
rs11809934	0.95[ASN][1000 genomes]
rs11810829	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1226732	0.93[EUR][1000 genomes]
rs1226750	0.93[EUR][1000 genomes]
rs1612575	0.93[EUR][1000 genomes]
rs173208	0.87[EUR][1000 genomes]
rs1969084	0.87[EUR][1000 genomes]
rs1995403	0.83[EUR][1000 genomes]
rs2105460	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs346685	0.87[EUR][1000 genomes]
rs346686	0.87[EUR][1000 genomes]
rs346688	0.91[EUR][1000 genomes]
rs346689	0.91[EUR][1000 genomes]
rs346692	0.91[EUR][1000 genomes]
rs346703	0.87[EUR][1000 genomes]
rs346704	0.87[EUR][1000 genomes]
rs346709	0.91[EUR][1000 genomes]
rs346710	0.83[EUR][1000 genomes]
rs346711	0.91[EUR][1000 genomes]
rs346718	0.91[EUR][1000 genomes]
rs346720	0.91[EUR][1000 genomes]
rs346725	0.91[EUR][1000 genomes]
rs346726	0.91[EUR][1000 genomes]
rs346730	0.91[EUR][1000 genomes]
rs409082	0.91[EUR][1000 genomes]
rs412055	0.91[EUR][1000 genomes]
rs4415614	0.82[EUR][1000 genomes]
rs55842174	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55884892	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55996819	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56165953	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57477133	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59222807	0.85[ASN][1000 genomes]
rs60506423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60678516	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61574129	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72684447	0.87[EUR][1000 genomes]
rs72684454	0.87[EUR][1000 genomes]
rs72684481	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72684482	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72684485	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72684487	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72684488	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72684496	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72684499	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686404	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72686418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686420	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686421	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72686425	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72686431	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72686433	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72686444	0.88[ASN][1000 genomes]
rs72686446	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
4	nsv998187	chr1:45677251-45732377	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45710200-45712000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:45711600-45712200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:45711600-45712400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:45711600-45713000	Enhancers	Osteobl	bone
5	chr1:45711600-45713400	Enhancers	HUVEC	blood vessel
6	chr1:45711600-45713600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:45711800-45713000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:45711800-45713000	Enhancers	Hela-S3	cervix
9	chr1:45711800-45713000	Enhancers	HepG2	liver
10	chr1:45711800-45713000	Enhancers	NHDF-Ad	bronchial

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