Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119376891..119378894-chr6:119397399..119400605,3	K562	blood:
2	chr6:119327639..119329995-chr6:119375600..119378343,2	K562	blood:

Variant related genes	Relation type
ENSG00000111879	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10080387	0.81[CEU][hapmap];0.91[GIH][hapmap];0.93[MEX][hapmap];1.00[ASN][1000 genomes]
rs10081010	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758672	1.00[ASN][1000 genomes]
rs11758675	1.00[ASN][1000 genomes]
rs1334925	0.84[EUR][1000 genomes]
rs1334926	0.90[CEU][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap];0.86[EUR][1000 genomes]
rs1413908	0.90[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1591367	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2209039	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4579389	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62421122	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6904368	1.00[ASN][1000 genomes]
rs6923475	1.00[ASN][1000 genomes]
rs72956707	1.00[ASN][1000 genomes]
rs72956712	1.00[ASN][1000 genomes]
rs72956714	1.00[ASN][1000 genomes]
rs7773450	1.00[ASN][1000 genomes]
rs909715	1.00[ASN][1000 genomes]
rs9489576	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489634	1.00[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	nsv1030400	chr6:119320153-119433830	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2146762	C6orf204	cis	cerebellum	SCAN
rs2146762	MCM9	cis	cerebellum	SCAN
rs2146762	FAM184A	cis	parietal	SCAN
rs2146762	TSPYL1	cis	parietal	SCAN
rs2146762	MCM9	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119375000-119382000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:119375200-119381200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:119375800-119377800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:119375800-119381400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:119376400-119378400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:119377600-119378200	Enhancers	Cortex derived primary cultured neurospheres	brain

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