Variant report

Variant	rs13130047
Chromosome Location	chr4:132505315-132505316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10518599	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10518600	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11723962	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11724420	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11728217	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11730589	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731618	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13106215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13108048	0.91[GIH][hapmap];0.85[ASN][1000 genomes]
rs13113074	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13113912	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13120105	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13122376	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13130431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13136106	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13136507	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13136682	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13147076	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1355463	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1355464	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1355466	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1397864	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1511502	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1511505	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1705709	0.85[ASN][1000 genomes]
rs17460275	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17520207	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17520235	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1828512	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1846824	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28398024	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28530168	0.95[ASN][1000 genomes]
rs28679731	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28714103	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34153894	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34365512	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34389132	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34399681	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34591090	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34659672	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35036029	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35061432	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35085027	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs350999	0.85[ASN][1000 genomes]
rs35253571	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35346242	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35624173	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35712794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35803934	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5000721	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5000722	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5000723	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5000724	0.88[EUR][1000 genomes]
rs5000725	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62318266	0.85[ASN][1000 genomes]
rs62318269	0.95[ASN][1000 genomes]
rs62318270	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62318308	0.88[EUR][1000 genomes]
rs67579759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817016	0.85[ASN][1000 genomes]
rs6817269	0.85[ASN][1000 genomes]
rs6817917	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6846639	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6850260	0.85[ASN][1000 genomes]
rs6850270	0.85[ASN][1000 genomes]
rs6851082	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6851379	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6858325	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71593535	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7657158	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs978539	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497898	chr4:131709672-132625883	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv432626	chr4:131837395-132602395	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv525200	chr4:132100421-132527341	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1024302	chr4:132266739-132573468	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv537264	chr4:132266739-132573468	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv533069	chr4:132266740-132906467	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv427695	chr4:132369789-132930726	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1026146	chr4:132419151-132547426	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1032908	chr4:132429135-132547426	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv879976	chr4:132448906-132595111	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv879977	chr4:132456731-132595111	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1028991	chr4:132468062-132547426	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132504600-132506200	ZNF genes & repeats	Dnd41	blood
2	chr4:132505000-132505400	Enhancers	NHEK	skin
3	chr4:132505000-132505800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:132505000-132506000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:132505000-132506200	Enhancers	HMEC	breast
6	chr4:132505200-132505800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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