Variant report

Variant	rs73580913
Chromosome Location	chr20:1692802-1692803
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:1692760-1692910	HepG2	liver:	n/a	n/a
2	KAP1	chr20:1692695-1693417	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
SIRPB3P	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11904920	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11905288	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11905339	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11905607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906144	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906175	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11907220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11907659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11907976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11908091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56911787	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57731168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58128200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61306473	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576959	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580910	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580942	1.00[AFR][1000 genomes]
rs73580946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580953	0.89[AFR][1000 genomes]
rs73580955	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580957	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580967	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580969	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582722	0.89[AFR][1000 genomes]
rs8116970	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv912596	chr20:1486637-1877150	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1057036	chr20:1493425-1869281	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv912597	chr20:1500506-1877150	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv833894	chr20:1519433-1753366	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv531473	chr20:1532476-1864506	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1063429	chr20:1679052-1706969	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1793674	chr20:1685595-1704114	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 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	chr20:1688800-1693000	Weak transcription	HMEC	breast
2	chr20:1689400-1698200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr20:1689600-1693000	Weak transcription	K562	blood
4	chr20:1692600-1694200	ZNF genes & repeats	Lung	lung
5	chr20:1692800-1693000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:1692800-1693000	Bivalent Enhancer	Placenta	Placenta
7	chr20:1692800-1693600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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