Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:40707141..40708793-chr20:40710489..40712179,2	K562	blood:

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

rs_ID	r²[population]
rs1076666	0.80[ASN][1000 genomes]
rs1569547	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2016647	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2866943	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3787279	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs45474194	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55683344	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6016688	0.84[ASN][1000 genomes]
rs6065432	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6065434	0.91[AFR][1000 genomes]
rs6072628	0.87[ASN][1000 genomes]
rs6102659	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6102662	1.00[ASN][1000 genomes]
rs6102669	0.81[EUR][1000 genomes]
rs6102677	0.87[ASN][1000 genomes]
rs6130026	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6130031	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs722897	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs742293	0.84[ASN][1000 genomes]
rs877431	0.98[AFR][1000 genomes];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	nsv3381	chr20:39925326-40765696	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40701800-40715200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40703800-40713200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr20:40707600-40711200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr20:40708600-40709000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:40708600-40709200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:40708600-40711200	Enhancers	Fetal Brain Male	brain

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