Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:151484112..151485634-chr5:151524575..151526562,2	K562	blood:

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

rs_ID	r²[population]
rs10515656	0.86[AFR][1000 genomes]
rs154095	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256142	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256143	0.82[AFR][1000 genomes]
rs256144	0.83[AFR][1000 genomes]
rs256145	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs256146	0.83[AFR][1000 genomes]
rs256148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256149	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256156	0.84[ASN][1000 genomes]
rs294961	0.86[CHB][hapmap]
rs297449	0.81[ASN][1000 genomes]
rs29824	0.83[ASN][1000 genomes]
rs29826	0.80[ASN][1000 genomes]
rs29831	0.81[ASN][1000 genomes]
rs29833	0.81[ASN][1000 genomes]
rs29836	0.83[ASN][1000 genomes]
rs29837	0.83[ASN][1000 genomes]
rs29842	0.85[ASN][1000 genomes]
rs29843	0.85[ASN][1000 genomes]
rs390073	0.82[ASN][1000 genomes]
rs39804	0.80[ASN][1000 genomes]
rs787118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020899	chr5:151412785-151516788	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv508384	chr5:151438582-151487326	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv2760935	chr5:151463117-151586051	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv883039	chr5:151471642-151540888	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv883040	chr5:151471642-151596273	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs256147	ZNF300	cis	parietal	SCAN
rs256147	ARHGEF37	cis	cerebellum	SCAN
rs256147	G3BP1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151480800-151486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:151483800-151486400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:151484600-151486200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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