Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210940736..210943130-chr1:210948114..210951071,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12142954	0.83[ASN][1000 genomes]
rs12562303	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12562536	0.83[ASN][1000 genomes]
rs12563193	0.83[ASN][1000 genomes]
rs12565452	0.92[ASN][1000 genomes]
rs12566234	0.92[ASN][1000 genomes]
rs17016993	0.83[EUR][1000 genomes]
rs1970589	0.82[ASN][1000 genomes]
rs2022442	0.96[ASN][1000 genomes]
rs4951576	0.97[ASN][1000 genomes]
rs4951591	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55723924	0.86[ASN][1000 genomes]
rs56849437	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57144255	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58371160	0.91[EUR][1000 genomes]
rs59441822	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60698984	0.91[EUR][1000 genomes]
rs61829493	0.82[ASN][1000 genomes]
rs73069566	0.91[EUR][1000 genomes]
rs74156059	0.89[ASN][1000 genomes]
rs74156061	0.89[ASN][1000 genomes]
rs74156063	0.92[ASN][1000 genomes]
rs74156064	0.92[ASN][1000 genomes]
rs74156835	0.83[EUR][1000 genomes]
rs7517580	0.83[EUR][1000 genomes]
rs7520112	0.83[EUR][1000 genomes]
rs9430047	0.96[ASN][1000 genomes]
rs9430049	0.96[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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873153	chr1:210900481-210994339	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv999018	chr1:210907239-210999306	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210938600-210943000	Weak transcription	HSMMtube	muscle
2	chr1:210938600-210943800	Weak transcription	HSMM	muscle
3	chr1:210941800-210978000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:210942400-210942800	Enhancers	Fetal Kidney	kidney
5	chr1:210942600-210942800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:210942600-210943000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:210942600-210943200	Enhancers	Brain Germinal Matrix	brain

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