Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:101211780..101214505-chr9:101259944..101262632,2	K562	blood:
2	chr9:101212093..101214362-chr9:101215646..101217981,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10986192	1.00[ASN][1000 genomes]
rs10986247	1.00[ASN][1000 genomes]
rs10986473	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1211545	1.00[ASN][1000 genomes]
rs12343226	1.00[ASN][1000 genomes]
rs12378676	0.87[CEU][hapmap];1.00[CHB][hapmap];0.80[MEX][hapmap];1.00[ASN][1000 genomes]
rs13286162	1.00[ASN][1000 genomes]
rs13288889	1.00[ASN][1000 genomes]
rs1572473	1.00[ASN][1000 genomes]
rs16917637	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17770838	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2900382	1.00[CHB][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs57185876	1.00[ASN][1000 genomes]
rs57905636	1.00[ASN][1000 genomes]
rs59614727	1.00[ASN][1000 genomes]
rs60868407	1.00[ASN][1000 genomes]
rs66989623	1.00[ASN][1000 genomes]
rs73502480	1.00[ASN][1000 genomes]
rs7860298	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7861148	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs871744	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11793304	MED18	trans	parietal	SCAN
rs11793304	ZIC2	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101201000-101221200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr9:101204600-101218000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:101205000-101218200	Weak transcription	Brain Angular Gyrus	brain
4	chr9:101211600-101214200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:101213000-101216000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:101213400-101216000	Weak transcription	Osteobl	bone

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