Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71458616..71460570-chr16:71466818..71468399,2	K562	blood:

Variant related genes	Relation type
ENSG00000261348	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10468265	1.00[JPT][hapmap]
rs11866859	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs12934168	0.82[EUR][1000 genomes]
rs12934739	0.89[EUR][1000 genomes]
rs12935725	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs13333985	0.96[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs16972663	0.96[CEU][hapmap];0.98[EUR][1000 genomes]
rs16972805	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs16972808	1.00[JPT][hapmap]
rs16973000	1.00[JPT][hapmap]
rs16973112	1.00[JPT][hapmap]
rs2052873	1.00[JPT][hapmap]
rs310335	0.92[CEU][hapmap]
rs3886947	1.00[JPT][hapmap]
rs4644867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188475	0.96[CEU][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs7188858	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197127	1.00[JPT][hapmap]
rs7203200	1.00[ASN][1000 genomes]
rs7499392	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044168	1.00[JPT][hapmap]
rs8049040	1.00[JPT][hapmap]
rs8051439	1.00[JPT][hapmap]
rs8054221	0.86[EUR][1000 genomes]
rs8056735	1.00[JPT][hapmap]
rs8060176	0.87[EUR][1000 genomes]
rs9940485	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4258624	CBFB	cis	parietal	SCAN
rs4258624	CMTM1	cis	cerebellum	SCAN
rs4258624	TPPP3	cis	cerebellum	SCAN
rs4258624	SNTB2	cis	cerebellum	SCAN
rs4258624	ZNF23	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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