Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67333615..67337326-chr1:67338154..67341461,3	K562	blood:

Variant related genes	Relation type
ENSG00000152763	Chromatin interaction

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

rs_ID	r²[population]
rs11208960	1.00[JPT][hapmap]
rs11589326	1.00[JPT][hapmap]
rs11809759	1.00[JPT][hapmap]
rs12239035	0.89[CEU][hapmap]
rs12239074	0.89[CEU][hapmap]
rs1280338	0.89[CEU][hapmap]
rs17442592	1.00[JPT][hapmap]
rs1925399	0.83[CEU][hapmap]
rs1925401	0.82[CEU][hapmap]
rs1925404	0.83[CEU][hapmap]
rs1931297	0.88[CEU][hapmap]
rs2147836	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269401	0.88[CEU][hapmap]
rs269402	0.88[CEU][hapmap]
rs269403	0.89[CEU][hapmap]
rs2985799	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2991354	0.83[CEU][hapmap]
rs34182923	1.00[ASN][1000 genomes]
rs34407103	1.00[ASN][1000 genomes]
rs60016718	1.00[ASN][1000 genomes]
rs6680173	1.00[ASN][1000 genomes]
rs6702554	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6703322	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs72924139	1.00[ASN][1000 genomes]
rs7535403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9659043	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv830093	chr1:67173594-67348264	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv546443	chr1:67268642-67352960	Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871738	chr1:67268642-67375206	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv871259	chr1:67275027-67375206	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs496070	WDR78	cis	parietal	SCAN
rs496070	GADD45A	cis	cerebellum	SCAN
rs496070	WLS	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67336200-67344000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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