Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16459717..16461652-chr7:16486273..16490006,3	K562	blood:
2	chr7:16478161..16480424-chr7:16488951..16492232,3	K562	blood:

Variant related genes	Relation type
ENSG00000214960	Chromatin interaction

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

rs_ID	r²[population]
rs10229444	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240946	0.82[ASN][1000 genomes]
rs10257743	0.83[EUR][1000 genomes]
rs10260275	0.82[ASN][1000 genomes]
rs10267704	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16878759	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17169461	0.83[EUR][1000 genomes]
rs17169466	0.83[EUR][1000 genomes]
rs17169476	0.83[EUR][1000 genomes]
rs17169488	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17169493	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1921832	0.83[EUR][1000 genomes]
rs2178599	0.83[EUR][1000 genomes]
rs2301969	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2389639	0.83[EUR][1000 genomes]
rs3763508	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41477247	0.90[ASN][1000 genomes]
rs4721503	1.00[ASN][1000 genomes]
rs6945425	0.90[ASN][1000 genomes]
rs7804353	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886014	0.83[EUR][1000 genomes]

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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 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	chr7:16487600-16490200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:16488000-16489000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:16488400-16490400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:16488800-16490600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:16489000-16489400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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