Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74679776..74683417-chr4:74685230..74688235,3	K562	blood:
2	chr4:74568145..74570838-chr4:74686420..74688170,2	K562	blood:

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10005565	0.81[EUR][1000 genomes]
rs10009462	0.82[EUR][1000 genomes]
rs10009488	0.81[EUR][1000 genomes]
rs10010970	0.81[EUR][1000 genomes]
rs10015626	0.81[EUR][1000 genomes]
rs10019318	0.82[EUR][1000 genomes]
rs10031141	0.81[CEU][hapmap]
rs10938097	0.82[EUR][1000 genomes]
rs10938100	0.82[EUR][1000 genomes]
rs10938101	0.82[EUR][1000 genomes]
rs11730667	0.84[CEU][hapmap];0.86[CHB][hapmap]
rs11938389	0.82[EUR][1000 genomes]
rs12503139	1.00[EUR][1000 genomes]
rs12644561	1.00[EUR][1000 genomes]
rs13109146	0.95[EUR][1000 genomes]
rs13117876	0.84[CEU][hapmap];0.86[CHB][hapmap]
rs13151869	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1951235	0.96[EUR][1000 genomes]
rs1957070	0.82[EUR][1000 genomes]
rs2145617	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs2224434	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs2227306	0.81[CEU][hapmap]
rs2227543	0.81[CEU][hapmap]
rs2367276	0.82[EUR][1000 genomes]
rs2886920	0.80[EUR][1000 genomes]
rs2886922	0.82[EUR][1000 genomes]
rs4549349	0.82[EUR][1000 genomes]
rs4694178	0.84[CEU][hapmap];0.86[CHB][hapmap]
rs4694636	0.84[CEU][hapmap];0.86[CHB][hapmap]
rs4694637	0.84[CEU][hapmap];0.86[CHB][hapmap]
rs4694639	0.81[CEU][hapmap];0.82[TSI][hapmap]
rs6446960	0.83[EUR][1000 genomes]
rs6446961	0.81[CEU][hapmap]
rs6851997	0.80[EUR][1000 genomes]
rs6853679	0.82[EUR][1000 genomes]
rs724398	0.94[EUR][1000 genomes]
rs7669281	0.84[EUR][1000 genomes]
rs7689435	0.82[EUR][1000 genomes]
rs9999446	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13138675	PF4V1	cis	multi-tissue	Pritchard
rs13138675	SEPT11	cis	parietal	SCAN
rs13138675	NTM	trans	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74683400-74687800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:74683400-74688000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:74683400-74688000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:74683400-74688200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:74683600-74688800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:74684800-74693000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr4:74686400-74687200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:74686800-74687400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr4:74686800-74689800	Enhancers	Primary monocytes fromperipheralblood	blood

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