Variant report

Variant	rs12230113
Chromosome Location	chr12:21417485-21417486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10431251	0.98[ASN][1000 genomes]
rs10459074	0.86[ASN][1000 genomes]
rs10459075	0.86[ASN][1000 genomes]
rs10743411	0.86[ASN][1000 genomes]
rs10743412	0.86[ASN][1000 genomes]
rs10770795	0.92[ASN][1000 genomes]
rs10770796	0.87[ASN][1000 genomes]
rs10770797	0.86[ASN][1000 genomes]
rs10841777	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10841778	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10841779	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10841780	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10841781	0.96[ASN][1000 genomes]
rs10841782	0.96[ASN][1000 genomes]
rs10841786	0.96[ASN][1000 genomes]
rs10841787	0.96[ASN][1000 genomes]
rs10841790	0.84[ASN][1000 genomes]
rs10841791	0.86[ASN][1000 genomes]
rs10841794	0.86[ASN][1000 genomes]
rs11045915	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11045922	0.98[ASN][1000 genomes]
rs11045923	0.95[ASN][1000 genomes]
rs11045924	0.96[ASN][1000 genomes]
rs11045925	0.96[ASN][1000 genomes]
rs11045929	0.95[ASN][1000 genomes]
rs11045941	0.97[ASN][1000 genomes]
rs11045944	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11045948	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11045954	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11045955	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11045962	0.92[ASN][1000 genomes]
rs11045965	0.85[ASN][1000 genomes]
rs11045966	0.83[ASN][1000 genomes]
rs11045967	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11045968	0.87[ASN][1000 genomes]
rs11045969	0.86[ASN][1000 genomes]
rs11045970	0.87[ASN][1000 genomes]
rs11045971	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11045974	0.86[ASN][1000 genomes]
rs11045975	0.86[ASN][1000 genomes]
rs11045976	0.86[ASN][1000 genomes]
rs11045980	0.86[ASN][1000 genomes]
rs11533477	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11535998	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11536000	0.96[ASN][1000 genomes]
rs11537394	0.96[ASN][1000 genomes]
rs11561152	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12227319	0.87[ASN][1000 genomes]
rs12228765	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12230350	0.83[ASN][1000 genomes]
rs12230401	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12231212	0.86[ASN][1000 genomes]
rs12231484	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12231738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12311809	0.92[ASN][1000 genomes]
rs12581287	0.87[ASN][1000 genomes]
rs12581327	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16923597	0.98[ASN][1000 genomes]
rs2127117	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2127118	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2169883	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2219791	0.87[ASN][1000 genomes]
rs2219793	0.88[ASN][1000 genomes]
rs2306226	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2306227	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2306229	0.84[ASN][1000 genomes]
rs2306231	0.86[ASN][1000 genomes]
rs2417971	0.94[ASN][1000 genomes]
rs2417974	0.92[ASN][1000 genomes]
rs36089711	0.98[ASN][1000 genomes]
rs3736080	0.98[ASN][1000 genomes]
rs3736081	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3751270	0.92[ASN][1000 genomes]
rs3764041	0.87[ASN][1000 genomes]
rs3764042	0.86[ASN][1000 genomes]
rs3764044	0.98[ASN][1000 genomes]
rs3764045	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3794319	0.92[ASN][1000 genomes]
rs4115170	0.86[ASN][1000 genomes]
rs4140389	0.97[ASN][1000 genomes]
rs4148977	0.86[ASN][1000 genomes]
rs4148978	0.86[ASN][1000 genomes]
rs4148981	0.87[ASN][1000 genomes]
rs4148982	0.86[ASN][1000 genomes]
rs4148983	0.86[ASN][1000 genomes]
rs4148984	0.86[ASN][1000 genomes]
rs4148985	0.86[ASN][1000 genomes]
rs4148986	0.86[ASN][1000 genomes]
rs4148987	0.86[ASN][1000 genomes]
rs4148988	0.86[ASN][1000 genomes]
rs4148989	0.86[ASN][1000 genomes]
rs4148990	0.86[ASN][1000 genomes]
rs4148991	0.86[ASN][1000 genomes]
rs4148992	0.87[ASN][1000 genomes]
rs4148993	0.92[ASN][1000 genomes]
rs4148994	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4148995	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4148996	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4148997	0.93[ASN][1000 genomes]
rs4148998	0.92[ASN][1000 genomes]
rs4148999	0.92[ASN][1000 genomes]
rs4149001	0.93[ASN][1000 genomes]
rs4149002	0.94[ASN][1000 genomes]
rs4149003	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4149004	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4149005	0.98[ASN][1000 genomes]
rs4149006	0.98[ASN][1000 genomes]
rs4149007	1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4149008	0.99[ASN][1000 genomes]
rs4149009	0.97[ASN][1000 genomes]
rs57899519	0.98[ASN][1000 genomes]
rs6487216	0.86[ASN][1000 genomes]
rs6487217	0.86[ASN][1000 genomes]
rs7296472	0.86[ASN][1000 genomes]
rs7300346	0.86[ASN][1000 genomes]
rs7300463	0.86[ASN][1000 genomes]
rs7305911	0.92[ASN][1000 genomes]
rs7313671	0.86[ASN][1000 genomes]
rs7315667	0.86[ASN][1000 genomes]
rs7955581	0.98[ASN][1000 genomes]
rs7957203	0.86[ASN][1000 genomes]
rs7963398	0.87[ASN][1000 genomes]
rs7967354	0.98[ASN][1000 genomes]
rs7967935	0.86[ASN][1000 genomes]
rs7968331	0.86[ASN][1000 genomes]
rs7968842	0.86[ASN][1000 genomes]
rs7977517	0.87[ASN][1000 genomes]
rs7977652	0.87[ASN][1000 genomes]
rs7978981	0.86[ASN][1000 genomes]
rs7980842	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs875234	0.97[ASN][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	nsv948700	chr12:21008498-21422492	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv515735	chr12:21010048-21420712	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1052587	chr12:21149131-21420712	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1050396	chr12:21152478-21420712	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv898883	chr12:21294293-21450917	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv898886	chr12:21354494-21450250	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv898888	chr12:21355537-21426087	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3390939	chr12:21393734-21418537	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21411000-21460400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:21415800-21420000	Weak transcription	Liver	Liver
3	chr12:21416200-21449600	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:21416200-21473600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:21417000-21429800	Weak transcription	Brain Substantia Nigra	brain
6	chr12:21417200-21425800	Weak transcription	Brain Anterior Caudate	brain

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