Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:101321972..101324468-chr9:101326630..101329406,2	K562	blood:

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

rs_ID	r²[population]
rs10986631	0.92[ASN][1000 genomes]
rs10986638	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10986647	0.91[ASN][1000 genomes]
rs16916777	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs16916909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17778184	0.82[CEU][hapmap];1.00[AFR][1000 genomes]
rs1930409	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1999502	0.92[ASN][1000 genomes]
rs1999503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2001992	0.89[ASN][1000 genomes]
rs2779558	1.00[JPT][hapmap]
rs2779569	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2779576	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2808568	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2900512	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4237192	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4743234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs62576023	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576024	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs871002	0.96[GIH][hapmap];0.81[TSI][hapmap];1.00[AFR][1000 genomes]
rs914669	1.00[AFR][1000 genomes]
rs9408972	1.00[JPT][hapmap]
rs944760	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs944762	0.85[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831665	chr9:101170061-101367692	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv6633	chr9:101308371-101342811	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4743237	NRCAM	trans	lymphoblastoid	seeQTL
rs4743237	RNF20	cis	cerebellum	SCAN
rs4743237	IFI44	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101314400-101326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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