Variant report

Variant	rs159366
Chromosome Location	chr5:60498452-60498453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10071281	1.00[ASN][1000 genomes]
rs12153228	1.00[ASN][1000 genomes]
rs124899	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12516321	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519764	1.00[ASN][1000 genomes]
rs12519810	1.00[ASN][1000 genomes]
rs12520484	1.00[ASN][1000 genomes]
rs12521434	1.00[ASN][1000 genomes]
rs13184350	1.00[ASN][1000 genomes]
rs13187930	1.00[ASN][1000 genomes]
rs158701	1.00[ASN][1000 genomes]
rs158702	1.00[ASN][1000 genomes]
rs159359	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159361	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159367	0.80[AFR][1000 genomes]
rs159368	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159372	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs159540	0.81[EUR][1000 genomes]
rs2059064	1.00[ASN][1000 genomes]
rs2080870	1.00[ASN][1000 genomes]
rs248686	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs256373	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28634357	1.00[ASN][1000 genomes]
rs34089429	1.00[ASN][1000 genomes]
rs34155831	1.00[ASN][1000 genomes]
rs34279961	1.00[ASN][1000 genomes]
rs34499965	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34596	1.00[ASN][1000 genomes]
rs34611	1.00[ASN][1000 genomes]
rs34622	1.00[ASN][1000 genomes]
rs34628	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34630	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34632	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34633	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34784445	1.00[ASN][1000 genomes]
rs35078341	1.00[ASN][1000 genomes]
rs62365459	1.00[ASN][1000 genomes]
rs62367880	1.00[ASN][1000 genomes]
rs62367886	1.00[ASN][1000 genomes]
rs62367887	1.00[ASN][1000 genomes]
rs62370483	1.00[ASN][1000 genomes]
rs6893752	1.00[ASN][1000 genomes]
rs71630091	1.00[ASN][1000 genomes]
rs7446842	1.00[ASN][1000 genomes]
rs9291706	1.00[ASN][1000 genomes]
rs9763225	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	esv1845980	chr5:60481408-60511495	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs159366	ERCC8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60496000-60499000	Enhancers	HSMM	muscle
2	chr5:60497000-60499200	Enhancers	Osteobl	bone
3	chr5:60497000-60499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:60497400-60498600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:60498200-60499000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:60498400-60498600	Enhancers	HSMMtube	muscle

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