Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:86849704..86853199-chr2:86861014..86865288,5	K562	blood:
2	chr2:86858947..86862298-chr2:86867270..86869681,3	MCF-7	breast:
3	chr2:86859149..86861871-chr2:86863895..86866961,3	MCF-7	breast:
4	chr2:86857823..86859880-chr2:86861018..86863511,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239305	Chromatin interaction
ENSG00000249884	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10165914	0.85[EUR][1000 genomes]
rs10178968	0.85[EUR][1000 genomes]
rs1018311	0.86[ASN][1000 genomes]
rs10184617	0.84[EUR][1000 genomes]
rs10197478	0.85[EUR][1000 genomes]
rs10206802	0.85[EUR][1000 genomes]
rs11127049	0.85[EUR][1000 genomes]
rs11895434	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13407663	0.85[EUR][1000 genomes]
rs1370452	0.85[EUR][1000 genomes]
rs1437615	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4423596	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58333815	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59818518	0.84[EUR][1000 genomes]
rs6547701	0.85[EUR][1000 genomes]
rs6709371	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6758373	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72934456	0.85[EUR][1000 genomes]
rs72934463	0.85[EUR][1000 genomes]
rs72934466	0.85[EUR][1000 genomes]
rs7425154	0.86[ASN][1000 genomes]
rs7564251	0.85[EUR][1000 genomes]
rs9808243	0.85[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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86859400-86863000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:86860400-86872400	Weak transcription	Placenta	Placenta
3	chr2:86860800-86862200	Enhancers	HepG2	liver
4	chr2:86860800-86865000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:86861000-86863200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:86861200-86863200	Weak transcription	Liver	Liver
7	chr2:86861400-86863800	Weak transcription	Stomach Mucosa	stomach
8	chr2:86861400-86864000	Weak transcription	Rectal Mucosa Donor 31	rectum

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