Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:76031520..76033878-chr1:76036430..76038361,2	K562	blood:
2	chr1:76026343..76028341-chr1:76031572..76034136,2	K562	blood:
3	chr1:76032378..76034524-chr1:76036114..76037930,2	K562	blood:
4	chr1:76032274..76034095-chr1:76189128..76191576,2	K562	blood:

Variant related genes	Relation type
ENSG00000178193	Chromatin interaction
ENSG00000117054	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11804097	0.84[CHB][hapmap]
rs1332784	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs1332791	0.84[CHB][hapmap]
rs1571983	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs17097049	0.84[CHB][hapmap]
rs17303921	0.95[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs182411	0.81[ASW][hapmap];0.95[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.81[LWK][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs184159	0.84[GIH][hapmap];0.85[MEX][hapmap]
rs190024	0.81[CEU][hapmap]
rs211675	0.86[ASN][1000 genomes]
rs211678	0.80[ASN][1000 genomes]
rs211679	0.80[ASN][1000 genomes]
rs211683	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs211696	0.86[ASN][1000 genomes]
rs211702	0.81[CEU][hapmap]
rs211744	0.81[CEU][hapmap];0.84[GIH][hapmap];0.90[MEX][hapmap]
rs211759	0.87[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs211786	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs2347217	0.82[CHB][hapmap]
rs377233	0.89[ASN][1000 genomes]
rs396106	0.92[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.81[TSI][hapmap];0.89[ASN][1000 genomes]
rs398851	0.89[ASN][1000 genomes]
rs409544	0.89[ASN][1000 genomes]
rs434424	0.89[ASN][1000 genomes]
rs438611	0.92[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs645742	0.89[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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv3445096	chr1:75933216-76126980	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830270	chr1:76002220-76033156	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs211762	NEGR1	cis	parietal	SCAN
rs211762	IFI44	cis	parietal	SCAN
rs211762	SLC44A5	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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