Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223586120..223587741-chr1:223590261..223592377,2	K562	blood:
2	chr1:223589830..223593487-chr1:223595187..223598316,3	K562	blood:

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10494039	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10495206	0.84[JPT][hapmap]
rs10495207	0.92[JPT][hapmap]
rs10907376	1.00[ASW][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes]
rs1115114	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11261264	0.92[JPT][hapmap];0.88[YRI][hapmap]
rs11261270	0.85[AMR][1000 genomes]
rs11590684	1.00[CHB][hapmap];0.92[MEX][hapmap]
rs12123148	0.92[JPT][hapmap]
rs12140453	1.00[ASW][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.88[YRI][hapmap]
rs12141995	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12564615	0.92[JPT][hapmap]
rs1400959	0.84[JPT][hapmap]
rs17162072	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17480087	0.84[JPT][hapmap]
rs17480344	0.92[JPT][hapmap]
rs17518349	0.84[JPT][hapmap]
rs17518363	0.84[JPT][hapmap]
rs17539269	0.84[JPT][hapmap]
rs17539583	0.92[JPT][hapmap]
rs17578168	0.92[JPT][hapmap]
rs17578203	0.92[JPT][hapmap]
rs2138966	0.85[AMR][1000 genomes]
rs2176507	0.88[TSI][hapmap]
rs59355120	0.85[AMR][1000 genomes]
rs61839875	0.82[AMR][1000 genomes]
rs61839876	0.85[AMR][1000 genomes]
rs61839877	0.85[AMR][1000 genomes]
rs61839878	0.84[AMR][1000 genomes]
rs61839879	0.85[AMR][1000 genomes]
rs61839881	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7526539	0.82[AMR][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	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv4687	chr1:223565080-223610362	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12134824	SUSD4	cis	cerebellum	SCAN
rs12134824	SUSD4	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223582200-223590800	Weak transcription	Fetal Heart	heart
2	chr1:223588600-223591600	Weak transcription	Right Atrium	heart
3	chr1:223588800-223591200	Weak transcription	Pancreas	Pancrea
4	chr1:223590400-223591000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:223590600-223591600	Enhancers	Liver	Liver
6	chr1:223590600-223593600	Enhancers	HepG2	liver

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