Variant report

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:169629920..169631115-chr2:169776779..169777787,11	K562	blood:
2	chr2:169775702..169778963-chr2:169780525..169783462,3	K562	blood:
3	chr2:169202892..169203802-chr2:169776914..169777707,3	K562	blood:
4	chr2:169775702..169778664-chr2:169780525..169782299,2	K562	blood:
5	chr2:169769700..169774524-chr2:169775649..169779398,6	K562	blood:
6	chr2:169629906..169631239-chr2:169776809..169777837,8	MCF-7	breast:
7	chr2:169627058..169629094-chr2:169775848..169778213,2	K562	blood:
8	chr2:169629191..169630841-chr2:169776722..169777731,4	MCF-7	breast:
9	chr2:169202611..169203586-chr2:169776930..169777698,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000152253	Chromatin interaction

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

rs_ID	r²[population]
rs475612	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs484066	0.83[EUR][1000 genomes]
rs485094	0.91[EUR][1000 genomes]
rs486981	0.91[EUR][1000 genomes]
rs494874	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs502570	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs504979	0.85[EUR][1000 genomes]
rs508506	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs518598	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs537183	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552976	0.91[EUR][1000 genomes]
rs560887	0.94[ASN][1000 genomes]
rs563694	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566879	0.91[EUR][1000 genomes]
rs569805	0.91[EUR][1000 genomes]
rs569829	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs578763	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs579060	0.91[EUR][1000 genomes]
rs580670	0.98[EUR][1000 genomes]
rs853787	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs853789	0.96[CEU][hapmap];0.86[EUR][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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv459943	chr2:169756930-169799010	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv583600	chr2:169756930-169799010	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs557462	C10orf95	trans	parietal	SCAN
rs557462	DYNC1I2	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169770600-169778600	Weak transcription	Liver	Liver
2	chr2:169776800-169785000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:169777000-169777600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:169777000-169778000	Enhancers	K562	blood
5	chr2:169777400-169777800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:169777400-169777800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:169777400-169777800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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