Variant report

Variant	rs72728954
Chromosome Location	chr1:193643340-193643341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10489939	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17304406	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17304707	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17304721	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17304880	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17376294	0.94[ASN][1000 genomes]
rs17376406	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17376588	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17376643	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17376657	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17376699	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17376728	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17376854	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17376861	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2031832	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2039761	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2039762	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2039763	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2039764	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2149178	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41409146	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41533746	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55874905	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55950830	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56003845	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56106540	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57049435	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57730370	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58874275	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59209979	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61242642	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61831965	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61831966	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61831997	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61832001	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832029	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832030	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61833662	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61833663	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61833664	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61833665	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61833666	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61833667	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61833671	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6659749	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6671716	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72728933	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728968	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72744026	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9787078	0.91[EUR][1000 genomes];0.90[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	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3372415	chr1:193612172-193988265	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34989	chr1:193630577-193710196	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2756877	chr1:193631528-193710196	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2758986	chr1:193631528-193710196	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193643000-193644200	Enhancers	Rectal Mucosa Donor 31	rectum

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