Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42581855..42585774-chr5:42587574..42590469,5	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10941579	0.92[ASN][1000 genomes]
rs11949751	0.92[ASN][1000 genomes]
rs12515372	1.00[AFR][1000 genomes]
rs12516901	0.88[ASN][1000 genomes]
rs12520276	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12521020	0.92[ASN][1000 genomes]
rs28943879	1.00[AFR][1000 genomes]
rs28943881	0.88[ASN][1000 genomes]
rs34466913	0.88[ASN][1000 genomes]
rs4075783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4242115	1.00[AFR][1000 genomes]
rs4305645	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4314405	1.00[AFR][1000 genomes]
rs4484445	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4489074	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4496716	0.95[ASN][1000 genomes]
rs4504390	0.88[ASN][1000 genomes]
rs55696942	0.92[ASN][1000 genomes]
rs61197005	0.95[ASN][1000 genomes]
rs6451626	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6865492	0.92[ASN][1000 genomes]
rs6887718	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6896667	0.95[ASN][1000 genomes]
rs7721816	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7735889	0.92[ASN][1000 genomes]
rs9968669	1.00[AFR][1000 genomes];0.84[AMR][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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42568400-42582800	Weak transcription	Ovary	ovary
2	chr5:42571800-42583400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:42572200-42587800	Weak transcription	Left Ventricle	heart
4	chr5:42572400-42582800	Weak transcription	Right Ventricle	heart
5	chr5:42572800-42583000	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:42573600-42586600	Weak transcription	Psoas Muscle	Psoas
7	chr5:42579800-42583000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:42580000-42583000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:42580000-42586400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:42581200-42583000	Strong transcription	Adipose Nuclei	Adipose
11	chr5:42581200-42583000	Genic enhancers	Liver	Liver
12	chr5:42581600-42583200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:42581800-42583200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr5:42582000-42582800	ZNF genes & repeats	Fetal Stomach	stomach
15	chr5:42582000-42583000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:42582000-42583200	Strong transcription	Fetal Lung	lung
17	chr5:42582400-42583200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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