Variant report

Variant	rs2306227
Chromosome Location	chr12:21467417-21467418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10431251	0.89[ASN][1000 genomes]
rs10459074	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10459075	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10743411	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10743412	0.98[ASN][1000 genomes]
rs10770795	0.93[ASN][1000 genomes]
rs10770796	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10770797	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10841777	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10841778	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10841779	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10841780	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10841781	0.95[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs10841782	0.90[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10841786	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs10841787	0.90[ASN][1000 genomes]
rs10841790	0.96[ASN][1000 genomes]
rs10841791	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10841794	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11045915	0.94[EUR][1000 genomes]
rs11045922	0.89[ASN][1000 genomes]
rs11045923	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs11045924	0.95[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs11045925	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs11045929	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs11045941	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11045944	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11045948	0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11045954	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11045955	0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11045962	0.85[CHB][hapmap];0.94[ASN][1000 genomes]
rs11045965	0.97[ASN][1000 genomes]
rs11045966	0.95[ASN][1000 genomes]
rs11045967	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11045968	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs11045969	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[ASN][1000 genomes]
rs11045970	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs11045971	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11045974	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs11045975	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs11045976	0.98[ASN][1000 genomes]
rs11045980	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11533477	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11535998	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11536000	0.90[ASN][1000 genomes]
rs11537394	0.90[ASN][1000 genomes]
rs11561152	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12227319	0.88[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12228765	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12230113	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12230350	0.89[ASN][1000 genomes]
rs12230401	0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12231212	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12231484	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231738	0.95[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12311809	0.86[ASN][1000 genomes]
rs12581287	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs12581327	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12582717	1.00[MEX][hapmap]
rs16923597	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2127117	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127118	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2169883	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2219791	0.99[ASN][1000 genomes]
rs2219793	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2306226	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306229	0.95[ASN][1000 genomes]
rs2306231	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2417971	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2417974	0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36089711	0.89[ASN][1000 genomes]
rs3736080	0.89[ASN][1000 genomes]
rs3736081	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3751270	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs3764041	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3764042	0.98[ASN][1000 genomes]
rs3764044	0.90[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3764045	0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3794319	0.94[ASN][1000 genomes]
rs3899743	1.00[MEX][hapmap]
rs4115170	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4140389	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4148977	0.97[ASN][1000 genomes]
rs4148978	0.97[ASN][1000 genomes]
rs4148981	0.98[ASN][1000 genomes]
rs4148982	0.98[ASN][1000 genomes]
rs4148983	0.98[ASN][1000 genomes]
rs4148984	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4148985	0.98[ASN][1000 genomes]
rs4148986	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4148987	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4148988	0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4148989	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4148990	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4148991	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4148992	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4148993	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs4148994	0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4148995	0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4148996	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4148997	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4148998	0.94[ASN][1000 genomes]
rs4148999	0.94[ASN][1000 genomes]
rs4149001	0.95[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4149002	0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4149003	0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4149004	0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4149005	0.90[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs4149006	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4149007	0.87[ASN][1000 genomes]
rs4149008	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4149009	0.85[ASN][1000 genomes]
rs4149085	1.00[MEX][hapmap];0.88[EUR][1000 genomes]
rs57899519	0.89[ASN][1000 genomes]
rs6487216	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6487217	0.98[ASN][1000 genomes]
rs7296472	0.98[ASN][1000 genomes]
rs7300346	0.98[ASN][1000 genomes]
rs7300463	0.98[ASN][1000 genomes]
rs7305911	0.93[ASN][1000 genomes]
rs7313671	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs7315667	0.98[ASN][1000 genomes]
rs7955581	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7957203	0.98[ASN][1000 genomes]
rs7963398	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7967354	0.90[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7967935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7968331	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7968842	0.98[ASN][1000 genomes]
rs7977517	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7977652	0.99[ASN][1000 genomes]
rs7978981	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7980842	0.90[CHB][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs875234	0.88[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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21416200-21473600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:21461000-21473800	Weak transcription	Brain Angular Gyrus	brain
3	chr12:21463800-21468000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:21464800-21473400	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:21467200-21467600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:21467200-21468000	Enhancers	K562	blood
7	chr12:21467400-21467600	Flanking Active TSS	Brain Substantia Nigra	brain

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