Variant report

Variant	rs66538513
Chromosome Location	chr4:167002962-167002963
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10011050	0.92[ASN][1000 genomes]
rs11729467	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11730398	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11730477	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12648178	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1503302	0.86[EUR][1000 genomes]
rs1503303	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16999566	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2173307	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2202252	0.86[EUR][1000 genomes]
rs2292082	0.86[EUR][1000 genomes]
rs2292083	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28366617	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28380606	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28636651	0.85[ASN][1000 genomes]
rs3756016	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3756017	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4388044	0.86[EUR][1000 genomes]
rs4429697	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55639375	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6536940	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6536943	0.86[EUR][1000 genomes]
rs6536944	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6536945	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6815812	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6823990	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6857845	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72697388	0.86[EUR][1000 genomes]
rs7664119	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7671123	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7678997	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7684252	0.85[EUR][1000 genomes]
rs7686255	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7693478	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7694649	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9997681	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

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	nsv821638	chr4:166837633-167262625	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv830142	chr4:166935555-167095922	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1034421	chr4:166961339-167893289	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537339	chr4:166961339-167893289	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3323263	chr4:167002302-167006800	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
6	nsv513176	chr4:167002722-167005568	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166987000-167004800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:166993800-167004000	Weak transcription	Pancreas	Pancrea
3	chr4:167002400-167003400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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