Variant report

Variant	rs4419597
Chromosome Location	chr5:42666104-42666105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10041932	0.88[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10044117	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473288	0.83[ASN][1000 genomes]
rs11948463	0.87[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13168440	0.93[CEU][hapmap]
rs34343411	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4355531	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4413537	0.87[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4451056	0.94[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4523007	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4547964	0.87[CEU][hapmap]
rs4594864	0.81[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866792	0.93[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866943	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4994772	0.94[CEU][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5025611	0.94[CEU][hapmap]
rs6451632	0.94[CEU][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451633	0.93[CEU][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451634	0.93[CEU][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6451635	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873794	0.93[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878461	0.94[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878512	0.87[CEU][hapmap];0.82[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894403	0.87[CEU][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7442690	0.93[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7447731	0.94[CEU][hapmap];0.82[YRI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7721081	0.93[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722558	0.87[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292855	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292856	0.93[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9717120	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1019648	chr5:42616487-42696943	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv537736	chr5:42616487-42696943	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42657400-42667800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:42660000-42671200	Weak transcription	Liver	Liver

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