Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39640592..39642673-chr7:39644409..39647009,2	K562	blood:
2	chr7:39638958..39641769-chr7:39651985..39654836,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10272782	0.84[ASN][1000 genomes]
rs10486798	0.90[AFR][1000 genomes]
rs17171602	0.82[ASN][1000 genomes]
rs2329460	0.92[AFR][1000 genomes]
rs2329461	0.90[AFR][1000 genomes]
rs2329462	0.92[AFR][1000 genomes]
rs2329463	0.92[AFR][1000 genomes]
rs4451213	0.80[AFR][1000 genomes]
rs4720329	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4723882	0.91[AFR][1000 genomes]
rs4723883	0.90[AFR][1000 genomes]
rs4723884	0.90[AFR][1000 genomes]
rs4723885	0.81[AFR][1000 genomes]
rs61493712	0.90[AFR][1000 genomes]
rs6958662	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6964309	0.82[ASN][1000 genomes]
rs6968742	0.90[AFR][1000 genomes]
rs73375675	0.82[ASN][1000 genomes]
rs7796063	0.92[AFR][1000 genomes]
rs7809088	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][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	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39629600-39641800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:39632600-39646000	Weak transcription	K562	blood
3	chr7:39632800-39641600	Weak transcription	Osteobl	bone
4	chr7:39633200-39641400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:39634000-39641600	Weak transcription	HSMMtube	muscle
6	chr7:39638400-39646400	Weak transcription	Stomach Mucosa	stomach
7	chr7:39640400-39642400	Enhancers	NHDF-Ad	bronchial
8	chr7:39640400-39642800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:39640400-39645400	Enhancers	HSMM	muscle
10	chr7:39640800-39641800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:39640800-39642200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:39641000-39641800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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