Variant report

Variant	rs2102595
Chromosome Location	chr4:45096352-45096353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10024284	1.00[ASN][1000 genomes]
rs10024389	1.00[ASN][1000 genomes]
rs10084781	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10084782	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10084842	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10084859	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10213047	1.00[ASN][1000 genomes]
rs10470763	1.00[ASN][1000 genomes]
rs10938386	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1159117	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1159118	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729006	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941164	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12640145	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13106713	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133961	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13142361	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13146241	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319519	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13434591	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13434955	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1512300	1.00[ASN][1000 genomes]
rs1512303	1.00[ASN][1000 genomes]
rs1512305	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512313	1.00[ASN][1000 genomes]
rs1512314	1.00[ASN][1000 genomes]
rs1512316	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512317	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512318	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512319	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512320	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512321	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1606314	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1606315	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1606316	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1606317	1.00[ASN][1000 genomes]
rs1606318	1.00[ASN][1000 genomes]
rs17470619	1.00[ASN][1000 genomes]
rs17470661	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17574252	1.00[ASN][1000 genomes]
rs17574419	1.00[ASN][1000 genomes]
rs17574467	1.00[ASN][1000 genomes]
rs1849329	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1849333	1.00[ASN][1000 genomes]
rs1849334	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1849337	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858413	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858414	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960115	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048542	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048543	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048544	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048545	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2348812	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28547392	1.00[ASN][1000 genomes]
rs28595673	1.00[ASN][1000 genomes]
rs28787380	0.96[ASN][1000 genomes]
rs28819701	1.00[ASN][1000 genomes]
rs2882028	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28871337	1.00[ASN][1000 genomes]
rs4305555	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4306991	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4317235	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4321671	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4371653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4376184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4404583	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4422445	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4432781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4444869	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4473684	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4481272	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4492039	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4493580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4586989	1.00[ASN][1000 genomes]
rs4586990	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4604088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4624697	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4642285	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4642286	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643858	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4974508	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4974513	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409604	1.00[ASN][1000 genomes]
rs62409606	1.00[ASN][1000 genomes]
rs62409607	1.00[ASN][1000 genomes]
rs62409613	1.00[ASN][1000 genomes]
rs62409614	0.96[ASN][1000 genomes]
rs62409615	0.96[ASN][1000 genomes]
rs62409621	0.92[ASN][1000 genomes]
rs62409624	0.92[ASN][1000 genomes]
rs62409625	1.00[ASN][1000 genomes]
rs62409626	1.00[ASN][1000 genomes]
rs62409627	1.00[ASN][1000 genomes]
rs62409628	1.00[ASN][1000 genomes]
rs62409629	1.00[ASN][1000 genomes]
rs62409630	1.00[ASN][1000 genomes]
rs62409632	1.00[ASN][1000 genomes]
rs62409634	1.00[ASN][1000 genomes]
rs62409639	1.00[ASN][1000 genomes]
rs62409642	1.00[ASN][1000 genomes]
rs62409870	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62409874	1.00[ASN][1000 genomes]
rs62411632	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	1.00[ASN][1000 genomes]
rs62411642	1.00[ASN][1000 genomes]
rs6414673	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447414	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447417	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447425	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447426	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447429	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447436	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814348	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6815872	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817044	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855504	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856726	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654727	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656136	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7659477	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663667	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669613	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669811	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677867	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690331	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991982	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996002	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996003	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9992572	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9999206	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];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	chr4:45095200-45096400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr4:45096000-45104800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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