Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:159785315..159787463-chr1:159895003..159896696,2	MCF-7	breast:
2	chr1:159778155..159780944-chr1:159782160..159785920,3	K562	blood:
3	chr1:159785033..159789161-chr1:159789776..159794459,5	K562	blood:
4	chr1:159777030..159779806-chr1:159783326..159786228,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158710	Chromatin interaction

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

rs_ID	r²[population]
rs11265280	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs11265282	0.83[ASN][1000 genomes]
rs11585836	0.92[ASN][1000 genomes]
rs11590202	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11590961	0.92[ASN][1000 genomes]
rs12083595	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090961	1.00[JPT][hapmap]
rs4443889	0.83[ASW][hapmap];0.81[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4656851	0.88[ASN][1000 genomes]
rs55650803	0.92[ASN][1000 genomes]
rs57198275	0.92[ASN][1000 genomes]
rs58024147	0.83[ASN][1000 genomes]
rs58240276	0.92[ASN][1000 genomes]
rs6656168	0.85[ASN][1000 genomes]
rs6656979	0.81[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6657365	0.81[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6659704	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6672434	0.92[ASN][1000 genomes]
rs6692290	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7512164	0.88[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv521503	chr1:159762120-159795478	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4301626	PEX19	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159774800-159796000	Weak transcription	Right Atrium	heart
2	chr1:159775800-159793400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:159779600-159794800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:159785000-159785600	Enhancers	Placenta	Placenta
5	chr1:159785200-159785400	Enhancers	Spleen	Spleen
6	chr1:159785200-159785800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

Quick Search: