Variant report

Variant	rs6440016
Chromosome Location	chr3:98374622-98374623
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr3:98374475-98374882	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
WWP1P1	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1000003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10428232	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1131857	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap]
rs1531377	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap];0.83[EUR][1000 genomes]
rs1675513	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1675534	0.85[CHB][hapmap]
rs3796137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3796138	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3796139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4401313	0.85[EUR][1000 genomes]
rs4597656	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56693294	0.83[EUR][1000 genomes]
rs58658285	0.83[EUR][1000 genomes]
rs6440000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6440004	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6440011	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6440012	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6440014	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6440017	1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6440021	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs6440022	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6784453	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6785928	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6786182	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6790842	0.84[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6796605	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6803092	0.84[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72924788	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7611858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7614764	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7618028	0.83[EUR][1000 genomes]
rs7621637	0.83[EUR][1000 genomes]
rs7623192	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7625458	0.86[ASN][1000 genomes]
rs7630058	0.93[CHB][hapmap];0.91[CHD][hapmap];0.82[ASN][1000 genomes]
rs7632042	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7636521	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7639655	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7641726	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7647570	0.81[EUR][1000 genomes]
rs7650163	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7653204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9867008	0.85[EUR][1000 genomes]
rs9872119	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1000357	chr3:98284283-98381473	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv524042	chr3:98317836-98436188	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1810552	chr3:98337517-98379709	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6440016	ZBTB11	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98370600-98376200	Weak transcription	Fetal Intestine Large	intestine
2	chr3:98370800-98376200	Weak transcription	GM12878-XiMat	blood
3	chr3:98372200-98376200	Weak transcription	Primary T cells from cord blood	blood
4	chr3:98373200-98375800	Weak transcription	Thymus	Thymus
5	chr3:98374000-98374800	Weak transcription	Stomach Mucosa	stomach
6	chr3:98374400-98375000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:98374400-98375000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:98374400-98375200	Enhancers	HUVEC	blood vessel
9	chr3:98374600-98374800	Enhancers	Fetal Thymus	thymus

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