Variant report

Variant	rs4571480
Chromosome Location	chr5:44687188-44687189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10805685	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10805686	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10941677	0.95[EUR][1000 genomes]
rs12188871	0.81[GIH][hapmap]
rs12516900	0.91[EUR][1000 genomes]
rs12522626	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13159598	0.82[TSI][hapmap]
rs13185555	0.80[AFR][1000 genomes]
rs2013513	1.00[CEU][hapmap]
rs2218080	0.92[CEU][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap]
rs2218081	1.00[CEU][hapmap];0.80[CHD][hapmap];0.98[GIH][hapmap];0.98[TSI][hapmap]
rs36068815	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4321755	0.91[EUR][1000 genomes]
rs4415084	0.95[EUR][1000 genomes]
rs4415085	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4457089	0.81[GIH][hapmap]
rs4463188	0.91[EUR][1000 genomes]
rs4479849	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4492118	0.91[EUR][1000 genomes]
rs4571481	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66996829	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6890556	0.92[EUR][1000 genomes]
rs714130	1.00[CEU][hapmap]
rs727304	0.82[JPT][hapmap]
rs727305	0.81[GIH][hapmap]
rs7701466	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7720551	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7720787	0.82[TSI][hapmap]
rs7723539	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7735881	0.90[EUR][1000 genomes]
rs920329	1.00[CEU][hapmap];0.80[CHD][hapmap];0.98[GIH][hapmap];0.98[TSI][hapmap]
rs930395	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830278	chr5:44540863-44713312	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv880457	chr5:44632008-44800665	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4571480	LOC647121	Cis_chr	lymphoblastoid	RTeQTL
rs4571480	RP11-53O19.3	cis	Nerve Tibial	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44686800-44687200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:44686800-44687200	Enhancers	Ovary	ovary
3	chr5:44686800-44687400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:44686800-44687400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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