Variant report

Variant	rs4890404
Chromosome Location	chr18:40131269-40131270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11876278	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11876287	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1431838	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1431840	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1431841	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1583210	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16976266	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16976272	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16976273	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16976274	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs183552	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs237972	0.84[EUR][1000 genomes]
rs346234	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs346238	0.84[EUR][1000 genomes]
rs4312390	0.90[EUR][1000 genomes]
rs4503884	0.91[EUR][1000 genomes]
rs4533372	0.90[EUR][1000 genomes]
rs4575617	0.91[EUR][1000 genomes]
rs4588064	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60232560	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6507480	0.84[EUR][1000 genomes]
rs67530880	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67734761	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7239826	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7240250	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72893563	0.87[EUR][1000 genomes]
rs72893564	0.87[EUR][1000 genomes]
rs72893572	0.89[EUR][1000 genomes]
rs72893580	0.90[EUR][1000 genomes]
rs72893582	0.90[EUR][1000 genomes]
rs72893596	0.90[EUR][1000 genomes]
rs72907077	0.87[EUR][1000 genomes]
rs8083332	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8087817	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059409	chr18:39711099-40139446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3447158	chr18:40045478-40320720	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv909573	chr18:40050363-40131269	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv2754458	chr18:40070202-40164902	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4890404	KIAA1328	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40126000-40135600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr18:40131200-40132200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr18:40131200-40132200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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