Variant report

Variant	rs73092281
Chromosome Location	chr1:220621762-220621763
allele	A/G
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	EBF1	chr1:220621520-220621876	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:220621731-220621850	GM12878	blood:	n/a	n/a
3	USF1	chr1:220621696-220621861	GM12878	blood:	n/a	chr1:220621767-220621778
4	EP300	chr1:220621713-220621913	GM12878	blood:	n/a	n/a
5	USF2	chr1:220621685-220621933	Hela-S3	cervix:	n/a	chr1:220621767-220621778
6	ZNF143	chr1:220621596-220621917	GM12878	blood:	n/a	n/a
7	USF1	chr1:220621634-220621942	K562	blood:	n/a	chr1:220621767-220621778
8	RUNX3	chr1:220621545-220621880	GM12878	blood:	n/a	n/a
9	USF1	chr1:220621674-220621887	SK-N-SH_RA	brain:	n/a	chr1:220621767-220621778
10	USF1	chr1:220621599-220621935	SK-N-SH	brain:	n/a	chr1:220621767-220621778
11	MAX	chr1:220621695-220621895	H1-hESC	embryonic stem cell:	n/a	n/a
12	USF2	chr1:220621580-220622022	GM12878	blood:	n/a	chr1:220621767-220621778
13	USF1	chr1:220621571-220621958	HCT-116	colon:	n/a	chr1:220621767-220621778
14	MAX	chr1:220621707-220621931	GM12878	blood:	n/a	n/a
15	NFYA	chr1:220621688-220621853	GM12878	blood:	n/a	n/a
16	NFYB	chr1:220621648-220621968	GM12878	blood:	n/a	n/a
17	ATF3	chr1:220621626-220621888	H1-hESC	embryonic stem cell:	n/a	n/a
18	E2F6	chr1:220621525-220622012	H1-hESC	embryonic stem cell:	n/a	n/a
19	NFE2	chr1:220621705-220621873	GM12878	blood:	n/a	n/a
20	BHLHE40	chr1:220621615-220621951	GM12878	blood:	n/a	n/a
21	USF1	chr1:220621635-220621882	GM12878	blood:	n/a	chr1:220621767-220621778
22	USF2	chr1:220621661-220621854	H1-hESC	embryonic stem cell:	n/a	chr1:220621767-220621778
23	USF1	chr1:220621683-220621862	HepG2	liver:	n/a	chr1:220621767-220621778
24	USF1	chr1:220621578-220621909	H1-hESC	embryonic stem cell:	n/a	chr1:220621767-220621778
25	USF1	chr1:220621662-220621953	H1-hESC	embryonic stem cell:	n/a	chr1:220621767-220621778

Variant related genes	Relation type
ENSG00000235163	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12562165	0.91[EUR][1000 genomes]
rs12562172	0.91[EUR][1000 genomes]
rs12563333	0.91[EUR][1000 genomes]
rs12563560	0.91[EUR][1000 genomes]
rs12563619	1.00[EUR][1000 genomes]
rs12564062	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568872	0.91[EUR][1000 genomes]
rs12568969	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1338775	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1933881	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55875950	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56659017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57725868	1.00[EUR][1000 genomes]
rs60843898	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669351	0.96[EUR][1000 genomes]
rs6685446	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686532	0.90[AFR][1000 genomes]
rs6688366	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092253	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73092254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73092256	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73092261	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73092264	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092269	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092271	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092272	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092273	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74139652	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74139653	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74139660	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74139668	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74139669	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537705	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv945300	chr1:220621462-220622701	Weak transcription Enhancers	TF binding region	1 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	chr1:220610000-220624000	Weak transcription	Fetal Heart	heart
2	chr1:220617600-220622400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:220620400-220624400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:220620600-220626800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:220621000-220622200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:220621200-220624600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:220621400-220622200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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