Variant report

Variant	rs2153889
Chromosome Location	chr6:78069922-78069923
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1110255	1.00[EUR][1000 genomes]
rs12181240	1.00[EUR][1000 genomes]
rs12333076	1.00[EUR][1000 genomes]
rs1343338	0.99[AFR][1000 genomes]
rs1419080	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1419081	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1557159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888750	0.87[ASN][1000 genomes]
rs16888753	0.87[ASN][1000 genomes]
rs1777799	1.00[EUR][1000 genomes]
rs1777801	1.00[EUR][1000 genomes]
rs1974363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2746588	1.00[EUR][1000 genomes]
rs2746589	1.00[EUR][1000 genomes]
rs3934417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55737033	0.83[ASN][1000 genomes]
rs55950973	0.83[ASN][1000 genomes]
rs56293001	0.83[ASN][1000 genomes]
rs56330160	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57360632	0.87[ASN][1000 genomes]
rs57622060	0.87[ASN][1000 genomes]
rs58203810	0.83[ASN][1000 genomes]
rs58378053	0.83[ASN][1000 genomes]
rs58682903	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59685275	0.83[ASN][1000 genomes]
rs6453975	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453976	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6900755	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs6904677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909159	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73758553	0.87[ASN][1000 genomes]
rs73758572	0.83[ASN][1000 genomes]
rs73758573	0.83[ASN][1000 genomes]
rs73758577	0.83[ASN][1000 genomes]
rs73758579	0.83[ASN][1000 genomes]
rs73758581	0.83[ASN][1000 genomes]
rs73758582	0.83[ASN][1000 genomes]
rs73758583	0.87[ASN][1000 genomes]
rs73758585	0.83[ASN][1000 genomes]
rs73758587	0.83[ASN][1000 genomes]
rs73758590	0.87[ASN][1000 genomes]
rs73758595	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73758596	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9341662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9352475	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9443392	1.00[EUR][1000 genomes]
rs9443394	1.00[EUR][1000 genomes]
rs9443410	1.00[EUR][1000 genomes]
rs9443415	1.00[EUR][1000 genomes]
rs9443416	1.00[EUR][1000 genomes]
rs9443417	1.00[EUR][1000 genomes]
rs9447997	1.00[EUR][1000 genomes]
rs9447998	1.00[EUR][1000 genomes]
rs9447999	1.00[EUR][1000 genomes]
rs9448003	1.00[EUR][1000 genomes]
rs9448049	1.00[EUR][1000 genomes]
rs9448058	1.00[EUR][1000 genomes]
rs9448059	1.00[EUR][1000 genomes]
rs9448063	1.00[EUR][1000 genomes]
rs9448065	1.00[EUR][1000 genomes]
rs9448066	1.00[EUR][1000 genomes]
rs9448068	1.00[EUR][1000 genomes]
rs9448069	1.00[EUR][1000 genomes]
rs9448075	1.00[EUR][1000 genomes]
rs9448090	1.00[EUR][1000 genomes]
rs9448091	1.00[EUR][1000 genomes]
rs9448094	1.00[EUR][1000 genomes]
rs947732	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[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	nsv1017082	chr6:77585310-78258237	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv534282	chr6:77764575-78351994	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034979	chr6:77781244-78426249	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538324	chr6:77781244-78426249	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1015307	chr6:77902559-78352291	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1024795	chr6:78028751-78076926	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1018131	chr6:78031037-78076926	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1028259	chr6:78059491-78709871	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv538325	chr6:78059491-78709871	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2153889	WWOX	trans	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78044200-78078200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:78048400-78071600	Weak transcription	NHEK	skin
3	chr6:78050200-78071800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:78050400-78070000	Weak transcription	Left Ventricle	heart
5	chr6:78053400-78071400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:78054400-78071400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:78063200-78071600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:78063200-78071600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:78066400-78071200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:78069600-78076600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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