Variant report

Variant	rs17007695
Chromosome Location	chr4:142709723-142709724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1021446	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs10519612	0.87[CEU][hapmap];0.85[JPT][hapmap]
rs10519613	0.87[CEU][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap]
rs12508866	0.84[MKK][hapmap]
rs13106911	0.87[CEU][hapmap];0.82[MEX][hapmap];0.84[MKK][hapmap]
rs13107813	0.87[CEU][hapmap]
rs13150149	0.85[AMR][1000 genomes]
rs17461899	1.00[YRI][hapmap]
rs1907949	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs2131412	0.87[CEU][hapmap]
rs33979009	0.85[AMR][1000 genomes]
rs35964658	0.85[AMR][1000 genomes]
rs3775596	0.87[CEU][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap]
rs3775597	0.87[CEU][hapmap]
rs62325678	0.85[AMR][1000 genomes]
rs62325682	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62325684	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62325685	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62325686	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957077	0.87[CEU][hapmap];0.82[MKK][hapmap]

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	esv3401979	chr4:142434442-142803321	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1018949	chr4:142451823-142732365	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv830095	chr4:142695078-142884988	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Response to treatment for acute lymphoblastic leukemia	19176441	GWAS catalog

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142707800-142710000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr4:142707800-142710200	Enhancers	Osteobl	bone
3	chr4:142708200-142710400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:142709400-142710800	Weak transcription	Aorta	Aorta
5	chr4:142709600-142710200	Enhancers	NHDF-Ad	bronchial

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