Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:154472104..154473757-chr5:156560735..156562249,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10038694	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10038971	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10050521	0.81[AFR][1000 genomes]
rs1005789	0.81[AFR][1000 genomes]
rs1008795	0.85[AFR][1000 genomes]
rs11167708	0.85[CEU][hapmap]
rs12153386	0.84[CEU][hapmap]
rs12519670	0.85[CEU][hapmap]
rs13155597	0.86[JPT][hapmap]
rs1319694	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17572520	0.81[JPT][hapmap]
rs34021636	0.84[EUR][1000 genomes]
rs6868742	0.85[CEU][hapmap]
rs6868904	0.85[CEU][hapmap]
rs6890098	0.83[CEU][hapmap]
rs6898774	0.85[CEU][hapmap]
rs7703759	0.81[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9285651	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9324802	0.86[EUR][1000 genomes]
rs9324804	0.85[AFR][1000 genomes]
rs9324805	0.85[AFR][1000 genomes]
rs988435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs991314	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[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	nsv883059	chr5:154457905-154556230	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6890664	SGCD	cis	parietal	SCAN
rs6890664	CNOT8	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154462200-154474400	Weak transcription	Right Ventricle	heart
2	chr5:154467400-154474800	Weak transcription	Left Ventricle	heart
3	chr5:154471600-154474400	Weak transcription	Ovary	ovary
4	chr5:154472000-154474000	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:154472400-154473600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:154472400-154483000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:154472600-154476000	Enhancers	Fetal Heart	heart
8	chr5:154472800-154477600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:154473000-154474000	Weak transcription	HSMMtube	muscle

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