Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193326973..193328579-chr1:193331886..193334879,2	K562	blood:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs34322743	0.81[AMR][1000 genomes]
rs56238040	0.86[AFR][1000 genomes]
rs57117843	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57648443	0.86[AFR][1000 genomes]
rs58109372	0.90[AMR][1000 genomes]
rs6428164	0.84[AFR][1000 genomes]
rs6659189	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6662220	0.84[AFR][1000 genomes]
rs6691567	0.90[AMR][1000 genomes]
rs6698831	0.90[AMR][1000 genomes]
rs74130953	0.84[AFR][1000 genomes]
rs74130956	0.84[AFR][1000 genomes]
rs74130959	0.84[AFR][1000 genomes]
rs74130961	0.86[AFR][1000 genomes]
rs74130962	0.86[AFR][1000 genomes]
rs74130963	0.86[AFR][1000 genomes]
rs74130966	0.88[AFR][1000 genomes]
rs74130967	0.88[AFR][1000 genomes]
rs74130968	0.88[AFR][1000 genomes]
rs74130969	0.88[AFR][1000 genomes]
rs74130970	0.88[AFR][1000 genomes]
rs74130971	0.88[AFR][1000 genomes]
rs74130972	0.88[AFR][1000 genomes]
rs74130974	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7522685	0.90[AMR][1000 genomes]
rs7534326	0.88[AFR][1000 genomes]
rs7536649	0.90[AMR][1000 genomes]
rs7538857	0.84[AFR][1000 genomes]
rs7542274	0.88[AFR][1000 genomes]
rs7542285	0.88[AFR][1000 genomes]
rs7542739	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1004003	chr1:193322299-193477254	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv535253	chr1:193322299-193477254	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193326400-193353000	Weak transcription	Fetal Lung	lung
2	chr1:193332000-193337000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:193332800-193338600	Weak transcription	Aorta	Aorta

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