Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:9852433..9855684-chr2:9858975..9863152,3	K562	blood:
2	chr2:9842350..9846952-chr2:9858838..9862900,5	K562	blood:

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1004488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10172624	1.00[AMR][1000 genomes]
rs10185303	1.00[EUR][1000 genomes]
rs10190680	1.00[AMR][1000 genomes]
rs10200454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10208526	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10469619	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11685143	1.00[EUR][1000 genomes]
rs11900302	1.00[EUR][1000 genomes]
rs11901478	1.00[EUR][1000 genomes]
rs13392859	1.00[EUR][1000 genomes]
rs13392861	1.00[EUR][1000 genomes]
rs13417294	1.00[EUR][1000 genomes]
rs13420034	1.00[EUR][1000 genomes]
rs16867063	1.00[EUR][1000 genomes]
rs16867103	1.00[EUR][1000 genomes]
rs16867145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4327210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56832685	1.00[EUR][1000 genomes]
rs57119165	1.00[EUR][1000 genomes]
rs58377484	1.00[EUR][1000 genomes]
rs59042599	1.00[EUR][1000 genomes]
rs59457002	1.00[EUR][1000 genomes]
rs60115192	1.00[EUR][1000 genomes]
rs6723929	1.00[AMR][1000 genomes]
rs6728922	1.00[AMR][1000 genomes]
rs73155171	1.00[EUR][1000 genomes]
rs73164230	1.00[EUR][1000 genomes]
rs73164231	1.00[EUR][1000 genomes]
rs73164234	1.00[EUR][1000 genomes]
rs73164238	1.00[EUR][1000 genomes]
rs73164239	1.00[EUR][1000 genomes]
rs73164242	1.00[EUR][1000 genomes]
rs73913171	1.00[AMR][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	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9856200-9861600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:9860600-9861600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:9860600-9861800	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:9860800-9861600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:9860800-9861800	Enhancers	GM12878-XiMat	blood
6	chr2:9861200-9861600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:9861200-9862000	Flanking Active TSS	K562	blood
8	chr2:9861400-9861800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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