Variant report

Variant	rs4694152
Chromosome Location	chr4:69901002-69901003
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10000598	0.81[EUR][1000 genomes]
rs10006282	0.81[EUR][1000 genomes]
rs10010699	0.81[EUR][1000 genomes]
rs10025070	0.93[ASN][1000 genomes]
rs10033045	0.93[ASN][1000 genomes]
rs10518057	0.81[EUR][1000 genomes]
rs10903224	0.81[EUR][1000 genomes]
rs11931604	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932983	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933432	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11936412	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11937195	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11945620	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11945705	0.93[ASN][1000 genomes]
rs11946976	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12499093	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12499192	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12503622	0.82[ASN][1000 genomes]
rs12506592	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12507173	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507556	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508596	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508920	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12509040	0.87[EUR][1000 genomes]
rs13132528	0.81[EUR][1000 genomes]
rs13136922	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13148603	0.81[EUR][1000 genomes]
rs1379813	0.81[EUR][1000 genomes]
rs1379816	0.81[EUR][1000 genomes]
rs1458243	0.80[EUR][1000 genomes]
rs1458245	0.81[EUR][1000 genomes]
rs1458246	0.81[EUR][1000 genomes]
rs1598904	0.81[EUR][1000 genomes]
rs17605102	0.86[EUR][1000 genomes]
rs1841052	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1993546	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2125307	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365062	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34545777	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34561399	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4259121	0.93[ASN][1000 genomes]
rs4343788	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4348159	0.87[ASN][1000 genomes]
rs4418041	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4434329	0.93[ASN][1000 genomes]
rs4554146	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694550	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694606	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55676022	0.82[ASN][1000 genomes]
rs55831171	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55905314	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56943005	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57468707	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58618511	0.86[AFR][1000 genomes]
rs58965335	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59314351	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59732068	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60276248	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62296919	0.93[ASN][1000 genomes]
rs62296937	0.81[EUR][1000 genomes]
rs62296941	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62298861	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62298872	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66698711	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72642933	0.85[EUR][1000 genomes]
rs72642938	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72642947	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72642961	0.93[ASN][1000 genomes]
rs7435335	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7441753	0.81[EUR][1000 genomes]
rs7680341	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7692753	0.82[EUR][1000 genomes]
rs9329037	0.80[EUR][1000 genomes]
rs9991142	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv829962	chr4:69786869-69910283	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv594582	chr4:69827340-69988378	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv2757064	chr4:69863174-69901607	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv879379	chr4:69878929-69987249	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv964058	chr4:69900771-69904058	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69900400-69901800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:69900600-69901600	Enhancers	A549	lung

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