Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:9823750..9829762-chr2:9830969..9835098,7	K562	blood:
2	chr2:9825009..9828236-chr2:9829697..9833325,6	K562	blood:
3	chr2:9825140..9827946-chr2:9837512..9839790,2	K562	blood:
4	chr2:9816821..9818752-chr2:9825459..9827916,2	K562	blood:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1004488	1.00[EUR][1000 genomes]
rs10185303	1.00[EUR][1000 genomes]
rs10188428	1.00[EUR][1000 genomes]
rs10200454	1.00[EUR][1000 genomes]
rs10208526	1.00[EUR][1000 genomes]
rs10469619	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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13420034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16867063	1.00[EUR][1000 genomes]
rs16867103	1.00[EUR][1000 genomes]
rs16867145	1.00[EUR][1000 genomes]
rs4327210	1.00[EUR][1000 genomes]
rs56832685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57119165	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73155171	1.00[EUR][1000 genomes]
rs73164230	1.00[EUR][1000 genomes]
rs73164231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164239	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164242	1.00[AMR][1000 genomes];1.00[EUR][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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9821800-9833000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:9823000-9827000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:9823000-9827800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:9826400-9826800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:9826400-9827600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:9826400-9827800	Enhancers	K562	blood

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