Variant report

Variant	rs2335443
Chromosome Location	chr5:178122153-178122154
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10042073	0.82[EUR][1000 genomes]
rs10058283	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1071881	0.81[ASN][1000 genomes]
rs1071882	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1071883	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1079487	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1132336	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs11739893	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11740283	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11742156	0.81[JPT][hapmap]
rs11742808	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11743893	0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11747097	0.80[ASN][1000 genomes]
rs11748495	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11748497	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11749438	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12187838	0.81[CEU][hapmap]
rs1585686	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17184281	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17184302	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17184344	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17652247	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1984703	0.82[EUR][1000 genomes]
rs2078257	0.82[EUR][1000 genomes]
rs2169762	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4266420	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs4470778	0.90[JPT][hapmap]
rs55974982	0.80[ASN][1000 genomes]
rs56159071	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58549512	0.82[ASN][1000 genomes]
rs61247551	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62392825	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62392826	0.80[ASN][1000 genomes]
rs62392827	0.82[ASN][1000 genomes]
rs62392831	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62392832	0.81[ASN][1000 genomes]
rs62392833	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6866344	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6873150	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72810690	0.95[EUR][1000 genomes]
rs72812613	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7719405	0.82[EUR][1000 genomes]
rs7732764	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1023697	chr5:178070594-178126328	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv537972	chr5:178070594-178126328	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv5155	chr5:178075100-178132799	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv883217	chr5:178099758-178193081	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1837537	chr5:178103405-178122284	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv1840322	chr5:178103405-178122284	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	esv1844379	chr5:178111284-178122284	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2335443	ZNF354A	cis	Whole Blood	GTEx
rs2335443	ZNF354A	cis	Thyroid	GTEx
rs2335443	CLK4	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178122000-178123000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:178122000-178123200	Enhancers	Primary neutrophils fromperipheralblood	blood

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