Variant report

Variant	rs1373442
Chromosome Location	chr12:40789904-40789905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10506156	0.90[AMR][1000 genomes]
rs11564104	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11564125	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11564131	1.00[EUR][1000 genomes]
rs11564145	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11564164	1.00[AFR][1000 genomes]
rs11564165	1.00[AFR][1000 genomes]
rs11564170	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11564190	1.00[EUR][1000 genomes]
rs11564229	1.00[AFR][1000 genomes]
rs11564231	1.00[AFR][1000 genomes]
rs11564249	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11564253	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11564255	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11564256	0.90[AMR][1000 genomes]
rs11564258	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11564259	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11564262	0.90[AMR][1000 genomes]
rs11564264	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11564266	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12422278	1.00[AFR][1000 genomes]
rs12422390	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12422527	1.00[AFR][1000 genomes]
rs12423419	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12423551	1.00[EUR][1000 genomes]
rs12423566	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs12423986	0.90[AMR][1000 genomes]
rs12424424	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12425677	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12425678	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12426639	0.80[AMR][1000 genomes]
rs12426903	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12427134	0.88[AMR][1000 genomes]
rs12427207	1.00[AFR][1000 genomes]
rs1365762	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1365768	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1365769	0.80[AMR][1000 genomes]
rs17128353	1.00[AFR][1000 genomes]
rs17128369	1.00[AFR][1000 genomes]
rs17128387	1.00[AFR][1000 genomes]
rs17443882	1.00[CHB][hapmap]
rs17444626	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17444646	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17444667	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17444681	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17444688	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17444702	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17444744	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17444751	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17444765	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17461692	1.00[EUR][1000 genomes]
rs17465723	1.00[CHB][hapmap]
rs17465730	1.00[CEU][hapmap]
rs17465960	1.00[CEU][hapmap]
rs17466893	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17466907	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17466969	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17467039	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17467081	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17467088	0.88[AMR][1000 genomes]
rs17467095	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17467102	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17467109	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17467116	0.88[AMR][1000 genomes]
rs17467137	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17467144	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs17467164	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17467263	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17467284	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17484141	1.00[EUR][1000 genomes]
rs17484176	1.00[CHB][hapmap]
rs17484493	0.80[AMR][1000 genomes]
rs17484541	1.00[AFR][1000 genomes]
rs17491124	1.00[CHB][hapmap]
rs17491445	1.00[CHB][hapmap]
rs17492152	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17497380	1.00[CHB][hapmap]
rs17497443	1.00[AFR][1000 genomes]
rs1867435	1.00[AFR][1000 genomes]
rs2017917	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2114566	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28365206	1.00[EUR][1000 genomes]
rs34567498	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35462920	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs35850095	1.00[AFR][1000 genomes]
rs3789329	1.00[AFR][1000 genomes]
rs3899331	0.90[AMR][1000 genomes]
rs3899332	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3909731	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4767964	1.00[EUR][1000 genomes]
rs4768248	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4768249	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4768251	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4768252	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4768253	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4768254	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4768264	1.00[AFR][1000 genomes]
rs4768268	1.00[AFR][1000 genomes]
rs4768283	1.00[AFR][1000 genomes]
rs4768286	1.00[AFR][1000 genomes]
rs5015147	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs5015148	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs5015149	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61736852	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73094961	0.88[AMR][1000 genomes]
rs7485401	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7487209	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7487333	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs971615	0.90[AMR][1000 genomes]
rs971616	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs971617	1.00[AFR][1000 genomes];0.90[AMR][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	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv899032	chr12:40735939-40827479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv558598	chr12:40742363-40828264	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1047639	chr12:40774370-40804386	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40787200-40799200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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