Variant report

Variant	rs12466753
Chromosome Location	chr2:101113144-101113145
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10166130	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10166865	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.81[LWK][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10175632	0.82[CHB][hapmap]
rs10180172	0.83[CEU][hapmap];0.91[CHB][hapmap]
rs10183360	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10184491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs10185111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs10195487	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10199745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs10199753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs10203739	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10210508	0.85[CHB][hapmap]
rs10865040	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11884644	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11884976	0.86[CHB][hapmap]
rs11891670	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap]
rs11892956	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11898188	0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11902961	0.87[EUR][1000 genomes]
rs12464855	0.83[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs12465627	0.89[EUR][1000 genomes]
rs12469068	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12475281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475282	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13388529	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13389527	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13393776	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13399092	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13408862	0.91[CHB][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13411940	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13412463	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13414632	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13414838	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13415591	0.83[CHB][hapmap]
rs13420383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs13421353	0.82[EUR][1000 genomes]
rs13427972	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13428749	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13430695	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1437968	0.83[CHB][hapmap]
rs1437974	0.83[CHB][hapmap]
rs1519656	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1519657	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17024335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17024409	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17024441	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309858	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2309859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2309860	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2309861	0.83[CHB][hapmap];0.87[EUR][1000 genomes]
rs2309862	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2309863	0.82[CHB][hapmap]
rs2309864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs2871352	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35031879	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4368352	0.84[EUR][1000 genomes]
rs4444551	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4581914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4589783	0.85[EUR][1000 genomes]
rs4630791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4632365	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4633941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56304912	0.87[EUR][1000 genomes]
rs57819301	0.90[EUR][1000 genomes]
rs60453957	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62155208	0.85[EUR][1000 genomes]
rs6542954	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6542955	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6542956	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6542960	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6542962	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6542963	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6542965	0.86[CHB][hapmap];0.89[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6542966	0.90[EUR][1000 genomes]
rs6718127	0.90[EUR][1000 genomes]
rs6722896	0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6731045	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6732569	0.83[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap]
rs6735337	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6745117	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6747630	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6755846	0.83[CHB][hapmap];0.80[CHD][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs6760452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs750033	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7561811	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7565675	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7568283	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7568519	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7576144	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7578352	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7592840	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7593928	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7596439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs7596851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7597254	0.89[EUR][1000 genomes]
rs7598078	0.87[EUR][1000 genomes]
rs7598339	0.87[EUR][1000 genomes]
rs7599321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7602968	0.90[EUR][1000 genomes]
rs7605662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7606473	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs869840	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9308837	0.80[EUR][1000 genomes]
rs9653443	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12466753	SEMA4C	cis	parietal	SCAN
rs12466753	GBP5	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101108800-101113800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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