Variant report

Variant	rs10835917
Chromosome Location	chr11:32484265-32484266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32455594..32457792-chr11:32483688..32485751,2	K562	blood:

Variant related genes	Relation type
ENSG00000183242	Chromatin interaction
ENSG00000184937	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10160794	0.83[ASN][1000 genomes]
rs10219425	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10835911	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10835916	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10835920	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10835925	0.83[ASN][1000 genomes]
rs10835927	0.82[ASN][1000 genomes]
rs11031791	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11031792	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11031793	0.87[EUR][1000 genomes]
rs11031796	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12282155	0.82[ASN][1000 genomes]
rs2301250	0.85[CHD][hapmap];0.80[TSI][hapmap]
rs2418910	0.85[CHD][hapmap];0.89[JPT][hapmap]
rs2418931	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2900741	0.87[CHD][hapmap];0.89[JPT][hapmap]
rs3809060	0.82[CHD][hapmap];0.80[TSI][hapmap]
rs3809061	0.83[CHD][hapmap];0.80[TSI][hapmap]
rs3858449	0.84[CHB][hapmap];0.93[CHD][hapmap]
rs3858454	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]
rs3858455	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3858456	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3858459	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3858461	0.85[ASN][1000 genomes]
rs3930317	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3930513	0.82[CHD][hapmap];0.80[TSI][hapmap]
rs4275604	0.86[EUR][1000 genomes]
rs4304749	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4980793	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5030141	0.84[CHB][hapmap];0.93[CHD][hapmap]
rs7101917	0.83[ASN][1000 genomes]
rs7103000	0.87[EUR][1000 genomes]
rs7110547	0.82[CHD][hapmap]
rs7126322	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7395210	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7944133	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7948813	0.83[AMR][1000 genomes];0.89[EUR][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
rs10835917	ELP4	cis	lymphoblastoid	seeQTL
rs10835917	WT1AS	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32469000-32487800	Weak transcription	Ovary	ovary
2	chr11:32475200-32487600	Weak transcription	Fetal Kidney	kidney
3	chr11:32483000-32484600	Enhancers	Fetal Muscle Leg	muscle

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