Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:9815419..9817026-chr2:9820698..9822791,2	K562	blood:
2	chr2:9770904..9772891-chr2:9820670..9822823,2	K562	blood:
3	chr2:9814066..9817606-chr2:9819607..9826005,6	MCF-7	breast:
4	chr2:9821821..9823452-chr2:9832501..9834077,2	K562	blood:
5	chr2:9821436..9823321-chr2:9832577..9834221,2	K562	blood:
6	chr2:9819036..9822364-chr2:9822409..9826364,4	K562	blood:
7	chr2:9814367..9816792-chr2:9820023..9823010,2	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction
ENSG00000244260	Chromatin interaction

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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13420034	0.86[AFR][1000 genomes];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	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	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73164234	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164239	0.93[AFR][1000 genomes];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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9819200-9823000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:9821800-9826400	Weak transcription	K562	blood
3	chr2:9821800-9833000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:9822000-9823000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:9822600-9823400	Enhancers	Fetal Intestine Large	intestine

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