Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:78563822..78566270-chr7:78567927..78570810,2	K562	blood:

Variant related genes	Relation type
ENSG00000251276	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10085753	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10230752	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10485921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11983680	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs11983739	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs1642887	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17151686	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17151746	0.92[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151751	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs17151808	0.84[JPT][hapmap]
rs2193713	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2216458	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2363924	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs6948798	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs719413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72612606	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72612607	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72612608	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7801721	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9656198	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs993515	0.93[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv482826	chr7:78548319-78717605	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv471642	chr7:78548320-78717605	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78561000-78569000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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