Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39595139..39597686-chr7:39605135..39607425,2	K562	blood:

Variant related genes	Relation type
ENSG00000227172	Chromatin interaction
ENSG00000241127	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10272782	0.90[ASN][1000 genomes]
rs11972333	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11973821	0.81[ASN][1000 genomes]
rs11982120	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11983780	0.81[ASN][1000 genomes]
rs12111825	0.81[ASN][1000 genomes]
rs12112633	0.81[ASN][1000 genomes]
rs12113030	0.81[ASN][1000 genomes]
rs12113190	0.81[ASN][1000 genomes]
rs17171602	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17713666	0.83[ASN][1000 genomes]
rs17770427	0.83[ASN][1000 genomes]
rs17770433	0.83[ASN][1000 genomes]
rs17770523	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2329450	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2329452	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4720329	0.84[ASN][1000 genomes]
rs60671668	0.81[ASN][1000 genomes]
rs6958662	0.84[ASN][1000 genomes]
rs6964309	0.90[ASN][1000 genomes]
rs73375606	0.81[ASN][1000 genomes]
rs73375634	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73375675	0.90[ASN][1000 genomes]
rs7809088	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39589400-39596200	Enhancers	Fetal Brain Male	brain
2	chr7:39594200-39595600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:39594800-39600000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:39595000-39600400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:39595400-39595800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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