Variant report

Variant	rs4440387
Chromosome Location	chr5:97172256-97172257
allele	C/G
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:72)

rs_ID	r²[population]
rs12653428	0.91[ASN][1000 genomes]
rs12654021	0.91[ASN][1000 genomes]
rs12655508	0.91[ASN][1000 genomes]
rs12655548	0.91[ASN][1000 genomes]
rs12656172	0.91[ASN][1000 genomes]
rs4327612	0.91[ASN][1000 genomes]
rs4379225	0.91[ASN][1000 genomes]
rs4551099	1.00[ASN][1000 genomes]
rs55706044	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55725155	0.93[EUR][1000 genomes]
rs55743944	0.91[ASN][1000 genomes]
rs55817884	0.93[EUR][1000 genomes]
rs55937002	0.91[ASN][1000 genomes]
rs56074649	0.91[ASN][1000 genomes]
rs56152369	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56260839	0.95[EUR][1000 genomes]
rs56313368	0.91[ASN][1000 genomes]
rs56336851	0.91[ASN][1000 genomes]
rs56666656	0.91[ASN][1000 genomes]
rs58700659	0.91[EUR][1000 genomes]
rs59931467	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61166915	0.91[ASN][1000 genomes]
rs61545180	0.91[ASN][1000 genomes]
rs6557009	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6557011	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66476007	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66774764	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67435821	0.88[EUR][1000 genomes]
rs67922319	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67935527	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs68166390	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6859489	0.88[EUR][1000 genomes]
rs6882744	0.93[ASN][1000 genomes]
rs6884205	0.88[EUR][1000 genomes]
rs6890322	0.91[ASN][1000 genomes]
rs72779661	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72779662	0.91[ASN][1000 genomes]
rs72779664	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72779665	0.91[ASN][1000 genomes]
rs72779667	0.91[ASN][1000 genomes]
rs72779669	0.91[ASN][1000 genomes]
rs72779670	0.91[ASN][1000 genomes]
rs72779671	0.91[ASN][1000 genomes]
rs72779673	0.91[ASN][1000 genomes]
rs72779675	0.91[ASN][1000 genomes]
rs72779676	0.91[ASN][1000 genomes]
rs72779677	0.91[ASN][1000 genomes]
rs72779680	0.91[ASN][1000 genomes]
rs72779683	0.91[ASN][1000 genomes]
rs72779685	0.91[ASN][1000 genomes]
rs72779686	0.91[ASN][1000 genomes]
rs72779690	0.91[ASN][1000 genomes]
rs72779691	0.91[ASN][1000 genomes]
rs72781505	0.91[ASN][1000 genomes]
rs72781506	0.91[ASN][1000 genomes]
rs72781508	0.91[ASN][1000 genomes]
rs72781509	0.91[ASN][1000 genomes]
rs72781511	0.91[ASN][1000 genomes]
rs72781512	0.91[ASN][1000 genomes]
rs72781514	0.91[ASN][1000 genomes]
rs72781515	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72781520	0.91[ASN][1000 genomes]
rs72781522	0.91[ASN][1000 genomes]
rs72781524	0.91[ASN][1000 genomes]
rs72781525	0.91[ASN][1000 genomes]
rs72781527	0.91[ASN][1000 genomes]
rs7701490	0.91[ASN][1000 genomes]
rs7714125	0.91[ASN][1000 genomes]
rs7719818	0.91[ASN][1000 genomes]
rs7724005	0.91[ASN][1000 genomes]
rs7729626	0.91[ASN][1000 genomes]
rs7732992	0.91[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	nsv534326	chr5:96531217-97283481	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1031429	chr5:96777286-97269498	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv527650	chr5:96783726-97260358	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1028224	chr5:96791214-97258383	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv537814	chr5:96791214-97258383	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1020125	chr5:96937248-97350644	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv432757	chr5:97006304-97213768	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2754965	chr5:97013452-97296147	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1027714	chr5:97034552-97211333	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv471024	chr5:97048466-97187183	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1034347	chr5:97062961-97241450	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv830418	chr5:97139371-97326878	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97169000-97173800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:97169000-97174000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:97170600-97172400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:97171200-97174400	Enhancers	HUVEC	blood vessel

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