Variant report

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10060222	0.93[EUR][1000 genomes]
rs10073671	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10478816	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10520005	0.85[CHB][hapmap]
rs11241966	0.83[AMR][1000 genomes]
rs13185878	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs13361872	0.92[CHB][hapmap]
rs1363467	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1363470	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs3935200	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4240408	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4277962	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4331947	0.83[AMR][1000 genomes]
rs4415123	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4836381	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4836388	0.92[CHB][hapmap]
rs55670004	0.83[AMR][1000 genomes]
rs60454446	0.94[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6595839	0.81[AMR][1000 genomes]
rs6595843	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6859278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865322	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs6890614	0.82[AMR][1000 genomes]
rs6897794	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs9327479	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]

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	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6878310	FBN2	cis	Thyroid	GTEx
rs6878310	FBN2	cis	lung	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127931000-127932600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:127931000-127933600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:127931200-127932600	Enhancers	Fetal Muscle Leg	muscle
4	chr5:127931800-127932600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:127931800-127932800	Weak transcription	Fetal Kidney	kidney
6	chr5:127931800-127933400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:127932000-127932600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:127932000-127933200	Enhancers	Fetal Lung	lung
9	chr5:127932200-127932600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:127932200-127932600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:127932200-127933400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:127932400-127933400	Enhancers	HUES64 Cell Line	embryonic stem cell

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