Variant report

Variant	rs1512313
Chromosome Location	chr4:45098846-45098847
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs10024284	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10024389	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10084781	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10084782	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10084842	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10084859	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10213047	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10470763	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10938386	1.00[ASN][1000 genomes]
rs1159117	1.00[ASN][1000 genomes]
rs1159118	1.00[ASN][1000 genomes]
rs11729006	1.00[ASN][1000 genomes]
rs11941164	1.00[ASN][1000 genomes]
rs12640145	1.00[ASN][1000 genomes]
rs13106713	1.00[ASN][1000 genomes]
rs13133961	1.00[ASN][1000 genomes]
rs13142361	1.00[ASN][1000 genomes]
rs13146241	1.00[ASN][1000 genomes]
rs1319519	0.88[ASN][1000 genomes]
rs13434591	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13434955	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512300	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512303	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512305	1.00[ASN][1000 genomes]
rs1512314	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512316	1.00[ASN][1000 genomes]
rs1512317	1.00[ASN][1000 genomes]
rs1512318	1.00[ASN][1000 genomes]
rs1512319	1.00[ASN][1000 genomes]
rs1512320	1.00[ASN][1000 genomes]
rs1512321	1.00[ASN][1000 genomes]
rs1606314	1.00[ASN][1000 genomes]
rs1606315	1.00[ASN][1000 genomes]
rs1606316	1.00[ASN][1000 genomes]
rs1606317	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1606318	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470619	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574252	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574419	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574467	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1849329	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1849333	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1849334	1.00[ASN][1000 genomes]
rs1849337	1.00[ASN][1000 genomes]
rs1858413	1.00[ASN][1000 genomes]
rs1858414	1.00[ASN][1000 genomes]
rs1960115	1.00[ASN][1000 genomes]
rs2048542	1.00[ASN][1000 genomes]
rs2048543	1.00[ASN][1000 genomes]
rs2048544	1.00[ASN][1000 genomes]
rs2048545	1.00[ASN][1000 genomes]
rs2102595	1.00[ASN][1000 genomes]
rs2348812	1.00[ASN][1000 genomes]
rs28547392	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28595673	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28787380	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28819701	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882028	1.00[ASN][1000 genomes]
rs28871337	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4305555	1.00[ASN][1000 genomes]
rs4306991	1.00[ASN][1000 genomes]
rs4317235	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321671	1.00[ASN][1000 genomes]
rs4371653	1.00[ASN][1000 genomes]
rs4376184	1.00[ASN][1000 genomes]
rs4404583	1.00[ASN][1000 genomes]
rs4422445	1.00[ASN][1000 genomes]
rs4432781	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4444869	1.00[ASN][1000 genomes]
rs4473684	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4481272	1.00[ASN][1000 genomes]
rs4492039	1.00[ASN][1000 genomes]
rs4493580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4586989	1.00[ASN][1000 genomes]
rs4586990	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4604088	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4624697	1.00[ASN][1000 genomes]
rs4642285	1.00[ASN][1000 genomes]
rs4642286	1.00[ASN][1000 genomes]
rs4643858	1.00[ASN][1000 genomes]
rs4974508	1.00[ASN][1000 genomes]
rs4974513	1.00[ASN][1000 genomes]
rs62409604	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409606	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409607	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409613	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409614	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62409615	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62409621	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409624	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62409625	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409626	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409627	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409628	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409629	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409630	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409632	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409634	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409639	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409642	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409643	0.85[EUR][1000 genomes]
rs62409870	1.00[ASN][1000 genomes]
rs62409874	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411632	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411633	1.00[ASN][1000 genomes]
rs62411634	1.00[ASN][1000 genomes]
rs62411635	1.00[ASN][1000 genomes]
rs62411637	1.00[ASN][1000 genomes]
rs62411638	1.00[ASN][1000 genomes]
rs62411640	1.00[ASN][1000 genomes]
rs62411641	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411642	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6414673	1.00[ASN][1000 genomes]
rs6447414	1.00[ASN][1000 genomes]
rs6447417	1.00[ASN][1000 genomes]
rs6447425	1.00[ASN][1000 genomes]
rs6447426	1.00[ASN][1000 genomes]
rs6447429	1.00[ASN][1000 genomes]
rs6447436	1.00[ASN][1000 genomes]
rs6814348	1.00[ASN][1000 genomes]
rs6815872	1.00[ASN][1000 genomes]
rs6817044	1.00[ASN][1000 genomes]
rs6855504	1.00[ASN][1000 genomes]
rs6856726	1.00[ASN][1000 genomes]
rs7654727	1.00[ASN][1000 genomes]
rs7656136	1.00[ASN][1000 genomes]
rs7659477	1.00[ASN][1000 genomes]
rs7663667	1.00[ASN][1000 genomes]
rs7669613	1.00[ASN][1000 genomes]
rs7669811	1.00[ASN][1000 genomes]
rs7677867	1.00[ASN][1000 genomes]
rs7690331	1.00[ASN][1000 genomes]
rs9917913	1.00[ASN][1000 genomes]
rs991982	1.00[ASN][1000 genomes]
rs996002	1.00[ASN][1000 genomes]
rs996003	1.00[ASN][1000 genomes]
rs9992572	1.00[ASN][1000 genomes]
rs9999206	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531944	chr4:44299343-45200700	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1014327	chr4:44735209-45218149	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv878979	chr4:44871931-45102488	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv829919	chr4:45069901-45253808	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45096000-45104800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:45097600-45099000	Weak transcription	Fetal Heart	heart

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