Variant report

Variant	rs4148985
Chromosome Location	chr12:21486186-21486187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10431251	0.88[ASN][1000 genomes]
rs10459074	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10459075	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743411	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743412	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10770795	0.93[ASN][1000 genomes]
rs10770796	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10770797	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841777	0.88[ASN][1000 genomes]
rs10841778	0.87[ASN][1000 genomes]
rs10841779	0.88[ASN][1000 genomes]
rs10841780	0.88[ASN][1000 genomes]
rs10841781	0.87[ASN][1000 genomes]
rs10841782	0.86[ASN][1000 genomes]
rs10841786	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10841787	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10841790	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10841791	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841794	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045922	0.87[ASN][1000 genomes]
rs11045923	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11045924	0.89[ASN][1000 genomes]
rs11045925	0.89[ASN][1000 genomes]
rs11045929	0.88[ASN][1000 genomes]
rs11045941	0.89[ASN][1000 genomes]
rs11045944	0.92[ASN][1000 genomes]
rs11045948	0.93[ASN][1000 genomes]
rs11045954	0.92[ASN][1000 genomes]
rs11045955	0.93[ASN][1000 genomes]
rs11045962	0.94[ASN][1000 genomes]
rs11045965	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11045966	0.95[ASN][1000 genomes]
rs11045967	0.99[ASN][1000 genomes]
rs11045968	0.99[ASN][1000 genomes]
rs11045969	0.98[ASN][1000 genomes]
rs11045970	0.99[ASN][1000 genomes]
rs11045971	0.99[ASN][1000 genomes]
rs11045974	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045975	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045976	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11045980	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11533477	0.88[ASN][1000 genomes]
rs11535998	0.89[ASN][1000 genomes]
rs11536000	0.89[ASN][1000 genomes]
rs11537394	0.89[ASN][1000 genomes]
rs11561152	0.89[ASN][1000 genomes]
rs12227319	0.99[ASN][1000 genomes]
rs12228765	0.99[ASN][1000 genomes]
rs12230113	0.86[ASN][1000 genomes]
rs12230350	0.87[ASN][1000 genomes]
rs12230401	0.87[ASN][1000 genomes]
rs12231212	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12231484	0.98[ASN][1000 genomes]
rs12231738	0.89[ASN][1000 genomes]
rs12311809	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12581287	0.99[ASN][1000 genomes]
rs12581327	0.88[ASN][1000 genomes]
rs16923597	0.87[ASN][1000 genomes]
rs2127117	0.98[ASN][1000 genomes]
rs2127118	0.98[ASN][1000 genomes]
rs2169883	0.98[ASN][1000 genomes]
rs2219791	0.99[ASN][1000 genomes]
rs2219793	0.98[ASN][1000 genomes]
rs2306226	0.98[ASN][1000 genomes]
rs2306227	0.98[ASN][1000 genomes]
rs2306229	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2306231	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2417971	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2417974	0.95[ASN][1000 genomes]
rs36089711	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3736080	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3736081	0.88[ASN][1000 genomes]
rs3751270	0.94[ASN][1000 genomes]
rs3764041	0.99[ASN][1000 genomes]
rs3764042	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764044	0.88[ASN][1000 genomes]
rs3764045	0.89[ASN][1000 genomes]
rs3794319	0.94[ASN][1000 genomes]
rs4115170	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140389	0.86[ASN][1000 genomes]
rs4148977	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148978	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4148982	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148983	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148984	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148986	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148987	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4148988	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4148989	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148990	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148991	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148992	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4148993	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148994	0.93[ASN][1000 genomes]
rs4148995	0.93[ASN][1000 genomes]
rs4148996	0.93[ASN][1000 genomes]
rs4148997	0.93[ASN][1000 genomes]
rs4148998	0.94[ASN][1000 genomes]
rs4148999	0.94[ASN][1000 genomes]
rs4149001	0.93[ASN][1000 genomes]
rs4149002	0.92[ASN][1000 genomes]
rs4149003	0.92[ASN][1000 genomes]
rs4149004	0.87[ASN][1000 genomes]
rs4149005	0.87[ASN][1000 genomes]
rs4149006	0.86[ASN][1000 genomes]
rs4149007	0.86[ASN][1000 genomes]
rs4149008	0.86[ASN][1000 genomes]
rs4149009	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57899519	0.87[ASN][1000 genomes]
rs6487216	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6487217	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7296472	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300346	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300463	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305911	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7313671	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315667	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955581	0.87[ASN][1000 genomes]
rs7957203	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963398	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7967354	0.87[ASN][1000 genomes]
rs7967935	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968842	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977517	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7977652	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7978981	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7980842	0.87[ASN][1000 genomes]
rs875234	0.87[ASN][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	nsv557735	chr12:21443282-21538957	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21484000-21486800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr12:21485200-21486800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr12:21485800-21488400	Enhancers	Brain Hippocampus Middle	brain
4	chr12:21485800-21492000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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