Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:55135774..55137810-chr2:55139931..55142495,2	K562	blood:
2	chr2:55141860..55143829-chr2:55146556..55148555,2	MCF-7	breast:
3	chr2:55140902..55143790-chr2:55162996..55164852,2	K562	blood:
4	chr2:55140768..55142921-chr2:55189554..55192495,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214595	Chromatin interaction

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

rs_ID	r²[population]
rs1012603	1.00[CEU][hapmap]
rs10496034	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10496040	1.00[CEU][hapmap];0.91[TSI][hapmap]
rs12464877	1.00[ASW][hapmap]
rs17046514	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17046583	0.82[CEU][hapmap]
rs17046643	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17046658	1.00[CEU][hapmap]
rs2028728	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2241958	0.80[EUR][1000 genomes]
rs2304687	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2580768	1.00[ASW][hapmap]
rs2580770	1.00[ASW][hapmap]
rs2580771	1.00[ASW][hapmap]
rs2588515	1.00[ASW][hapmap]
rs4233955	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671991	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs4671995	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671997	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4672003	1.00[ASW][hapmap]
rs4672006	0.82[EUR][1000 genomes]
rs4672009	0.80[EUR][1000 genomes]
rs4672011	1.00[CEU][hapmap]
rs60553807	0.88[EUR][1000 genomes]
rs61486548	0.90[AMR][1000 genomes]
rs6734314	1.00[ASW][hapmap]
rs733916	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73936818	0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55134000-55153800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:55134200-55147600	Weak transcription	Fetal Brain Female	brain
4	chr2:55134400-55153600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:55136200-55145600	Weak transcription	HepG2	liver
6	chr2:55136800-55142000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:55139800-55142400	Weak transcription	NHLF	lung
8	chr2:55140400-55142600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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