Variant report

Variant	rs12478732
Chromosome Location	chr2:50358318-50358319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1037428	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10490240	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10490241	1.00[ASW][hapmap];0.95[CEU][hapmap];0.97[GIH][hapmap];0.90[LWK][hapmap];0.95[MKK][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10490243	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap]
rs10490244	0.81[EUR][1000 genomes]
rs10865243	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11125288	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11125289	0.96[ASN][1000 genomes]
rs11125290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11125291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11125292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11125294	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs11125295	0.81[LWK][hapmap]
rs11883844	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11887484	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11898302	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11901625	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12151722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12151727	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12465888	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12468151	0.96[ASN][1000 genomes]
rs12468252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12468342	0.94[ASN][1000 genomes]
rs12468396	0.94[ASN][1000 genomes]
rs12468477	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12469244	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12470002	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs12472712	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs12472743	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs12473119	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12474335	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12476530	0.95[CEU][hapmap];0.81[CHB][hapmap];0.80[EUR][1000 genomes]
rs12476825	0.93[CEU][hapmap]
rs12477934	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12478603	0.84[CEU][hapmap]
rs12479057	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12613266	0.99[ASN][1000 genomes]
rs12613363	0.95[CEU][hapmap]
rs12620250	0.87[ASN][1000 genomes]
rs12622844	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];0.86[YRI][hapmap];0.99[ASN][1000 genomes]
rs12622858	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];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12986904	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs1377233	1.00[ASW][hapmap];0.95[CEU][hapmap];0.84[CHB][hapmap];0.97[GIH][hapmap];0.90[LWK][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1377237	0.94[CEU][hapmap]
rs1452766	0.89[EUR][1000 genomes]
rs1452767	0.89[EUR][1000 genomes]
rs1452768	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1452778	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1452779	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1452780	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1452781	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1452783	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1517827	0.90[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.93[ASN][1000 genomes]
rs1563020	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1563024	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1563026	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1563027	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1584763	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs17039764	0.95[CEU][hapmap]
rs17039801	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17039807	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17039848	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17039863	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17039900	0.94[ASN][1000 genomes]
rs17039905	0.99[ASN][1000 genomes]
rs17039932	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.98[ASN][1000 genomes]
rs17039935	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17039940	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.81[MKK][hapmap];0.98[ASN][1000 genomes]
rs17039947	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17039976	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17039979	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs17039985	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs17040013	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1840074	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1880075	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1961358	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2011317	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2045003	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2123388	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs2218979	0.95[CEU][hapmap]
rs4032305	0.83[AMR][1000 genomes]
rs4641977	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4971554	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4971556	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4971646	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs4971648	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4971649	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4971650	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4971652	0.84[LWK][hapmap]
rs57366806	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61035060	0.96[ASN][1000 genomes]
rs6545149	0.95[CEU][hapmap]
rs6545155	0.85[CEU][hapmap]
rs6716404	0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6731360	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72874683	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72874698	0.87[ASN][1000 genomes]
rs72878120	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72878122	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72878124	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72878157	0.99[ASN][1000 genomes]
rs72878159	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72881242	0.95[ASN][1000 genomes]
rs7590544	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7607863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs896683	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs896684	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs896685	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs921572	1.00[ASW][hapmap];0.84[CHB][hapmap];0.87[GIH][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];0.93[YRI][hapmap]
rs921573	1.00[ASW][hapmap];0.84[CHB][hapmap];0.87[GIH][hapmap];0.93[LWK][hapmap];0.95[MKK][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs930752	0.95[CEU][hapmap];0.84[CHB][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs962332	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs962333	0.81[EUR][1000 genomes]
rs970896	0.95[CEU][hapmap];0.97[GIH][hapmap];0.88[TSI][hapmap]
rs9917277	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2756536	chr2:50313811-50375695	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12478732	NRXN1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50350600-50358800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:50353400-50360600	Weak transcription	Fetal Brain Male	brain
3	chr2:50353800-50358800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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