Variant report

Variant	rs12073843
Chromosome Location	chr1:172198008-172198009
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10489289	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10489290	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10489291	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10489292	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10752914	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10797881	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10797902	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10911323	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911326	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911338	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911349	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10911356	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10911394	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10911433	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10911504	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11583757	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12063247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12075079	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12081408	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12082431	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12402454	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12402792	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12403844	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12404267	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12404363	0.87[EUR][1000 genomes]
rs12404490	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12407453	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12409279	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12410143	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410416	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12411264	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12563643	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12567175	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1317394	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16844126	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16844128	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16844133	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16844134	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16844255	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2289635	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2421994	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2422074	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2422075	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3850639	0.89[EUR][1000 genomes]
rs3850640	0.89[EUR][1000 genomes]
rs3895277	0.87[EUR][1000 genomes]
rs4072117	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41516352	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4382763	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4484957	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55656112	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56682471	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60866522	0.90[EUR][1000 genomes]
rs6676836	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6678749	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6686115	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686118	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701414	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs678962	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721163	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721182	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72721197	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72723204	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000079	chr1:172146935-172230545	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv465650	chr1:172175115-172247127	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv548192	chr1:172175115-172247127	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv872546	chr1:172186321-172219995	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172194200-172199800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:172198000-172198200	Enhancers	Fetal Lung	lung

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