Variant report

Variant	rs11174152
Chromosome Location	chr12:62141882-62141883
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10784255	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10784256	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10784257	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10784258	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10784259	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877723	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877724	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877725	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877726	0.92[EUR][1000 genomes]
rs10877727	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10877728	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10877731	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877735	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877737	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877738	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877739	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877740	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11174141	1.00[CEU][hapmap];0.89[CHB][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174148	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11174149	0.96[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11174150	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174157	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174158	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174160	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11174161	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174176	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs11174202	0.85[CEU][hapmap]
rs11174203	0.84[CEU][hapmap]
rs11608376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11609198	0.95[CEU][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11609657	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11609916	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11613304	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11614225	0.83[EUR][1000 genomes]
rs11615924	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12184468	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12367913	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12369048	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12370254	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12371231	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12422512	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12423291	1.00[CEU][hapmap];0.89[CHB][hapmap];0.80[CHD][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap]
rs12423850	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12424350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12578673	1.00[CEU][hapmap];0.89[CHB][hapmap];0.84[GIH][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs12579930	0.83[EUR][1000 genomes]
rs12581090	0.83[EUR][1000 genomes]
rs12581195	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12581923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap]
rs12809540	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12809729	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs12811649	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs12811994	0.83[EUR][1000 genomes]
rs12813599	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[EUR][1000 genomes]
rs12814204	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12815221	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12818281	0.92[CEU][hapmap];0.88[CHB][hapmap]
rs12821872	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12823193	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes]
rs12826350	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12826571	0.96[CEU][hapmap];0.89[CHB][hapmap]
rs12827424	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[GIH][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap]
rs12828092	0.92[CEU][hapmap];0.89[CHB][hapmap]
rs12829322	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12830041	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap]
rs12831273	0.80[EUR][1000 genomes]
rs17125407	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17577005	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap]
rs2061207	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2061208	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2067911	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2198773	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap]
rs2198774	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2198775	0.88[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2198780	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2198781	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2219259	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap]
rs2219260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2359982	1.00[CEU][hapmap];0.88[CHB][hapmap];0.80[EUR][1000 genomes]
rs28672870	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28830203	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2884859	0.94[CHB][hapmap]
rs2884860	0.96[CEU][hapmap];0.89[CHB][hapmap]
rs34053266	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34586287	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35378675	0.82[EUR][1000 genomes]
rs35395140	0.82[EUR][1000 genomes]
rs35406568	0.81[EUR][1000 genomes]
rs35772232	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35785062	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35807037	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4482081	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4511327	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs4763166	0.82[CEU][hapmap]
rs61942563	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61942566	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61942614	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6581424	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67880722	0.80[EUR][1000 genomes]
rs67925612	0.80[EUR][1000 genomes]
rs7132134	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137618	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71450557	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs717271	1.00[CEU][hapmap];0.90[TSI][hapmap]
rs724986	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap]
rs7294711	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap]
rs7306758	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73125574	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7315668	0.95[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7484594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7484623	0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7484749	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7484947	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7485481	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7487085	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7487661	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7488105	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7488993	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7961924	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964226	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7968946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs7977604	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979124	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7979216	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7979223	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[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	nsv1042044	chr12:61256015-62196885	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1039741	chr12:62046850-62491052	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899151	chr12:62108648-62227606	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv826402	chr12:62116803-62178453	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv826403	chr12:62130037-62190482	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11174152	R3HDM2	cis	cerebellum	SCAN
rs11174152	OS9	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62140400-62147200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:62140800-62142200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:62140800-62149200	Weak transcription	Ovary	ovary

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