Variant report

Variant	rs3858454
Chromosome Location	chr11:32473626-32473627
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:32468457..32470421-chr11:32472103..32475103,3	K562	blood:
2	chr11:32472024..32473812-chr11:32475588..32478251,3	K562	blood:
3	chr11:32472073..32474042-chr11:32651003..32653929,2	K562	blood:
4	chr11:32470724..32474567-chr11:32604115..32608445,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF3M-2	chr11:32473567-32473677	ENSG00000183242

Variant related genes	Relation type
ENSG00000149100	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10219425	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10742277	0.82[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10835911	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835916	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10835917	0.91[CEU][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.93[LWK][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10835920	0.88[EUR][1000 genomes]
rs11031791	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031792	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031793	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031796	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12270749	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12292135	0.87[ASN][1000 genomes]
rs2301250	0.92[CHD][hapmap];0.81[GIH][hapmap]
rs2418931	0.87[EUR][1000 genomes]
rs3809060	0.92[CHD][hapmap];0.81[GIH][hapmap]
rs3809061	0.92[CHD][hapmap];0.81[GIH][hapmap]
rs3858455	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858456	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858459	0.86[EUR][1000 genomes]
rs3930317	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3930513	0.92[CHD][hapmap];0.81[GIH][hapmap]
rs4275604	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4304749	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4980793	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103000	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110547	0.92[CHD][hapmap]
rs7126322	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7395210	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7944133	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7948813	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2753303	chr11:32447324-32494924	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3858454	WT1AS	cis	cerebellum	SCAN
rs3858454	ELP4	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32469000-32487800	Weak transcription	Ovary	ovary
2	chr11:32473400-32476600	Weak transcription	Right Atrium	heart
3	chr11:32473600-32474800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:32473600-32474800	Weak transcription	K562	blood

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