Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167433427..167437109-chr5:167443043..167445741,3	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10516039	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11948431	0.90[EUR][1000 genomes]
rs11950941	0.96[ASN][1000 genomes]
rs12153623	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17069520	0.93[ASN][1000 genomes]
rs17069547	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17069582	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17069585	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17069617	0.92[ASN][1000 genomes]
rs2617958	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2617979	0.86[ASN][1000 genomes]
rs56117649	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56379512	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58243181	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58485045	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66943039	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67727213	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6863895	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6882264	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72824974	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73375658	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs754925	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs889066	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9764066	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830546	chr5:167303135-167456271	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167423400-167440600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:167423400-167455400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:167429000-167437600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:167432400-167442400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:167432600-167436400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:167432600-167442000	Weak transcription	NHEK	skin
7	chr5:167432800-167440800	Weak transcription	Fetal Brain Male	brain
8	chr5:167433000-167436800	Weak transcription	Right Ventricle	heart
9	chr5:167434000-167436000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:167434000-167437200	Weak transcription	Fetal Lung	lung
11	chr5:167434000-167439000	Weak transcription	HSMM	muscle
12	chr5:167434200-167436800	Weak transcription	Fetal Heart	heart
13	chr5:167434200-167442200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:167434800-167437000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:167434800-167447600	Weak transcription	NH-A	brain
16	chr5:167435200-167436400	Weak transcription	Left Ventricle	heart

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