Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29521665..29524441-chr18:29544834..29547590,2	K562	blood:

Variant related genes	Relation type
ENSG00000263823	Chromatin interaction
ENSG00000153339	Chromatin interaction

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

rs_ID	r²[population]
rs1030403	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.95[ASN][1000 genomes]
rs12455103	0.95[ASN][1000 genomes]
rs4254394	0.87[ASN][1000 genomes]
rs4799610	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4799611	0.95[ASN][1000 genomes]
rs4799612	0.93[ASN][1000 genomes]
rs4799614	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6506952	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs67236500	0.95[ASN][1000 genomes]
rs7244936	0.94[ASN][1000 genomes]
rs7245194	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8083160	0.95[ASN][1000 genomes]
rs8086309	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8095233	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8096737	0.93[ASN][1000 genomes]
rs8097869	0.95[ASN][1000 genomes]
rs8098106	0.94[ASN][1000 genomes]
rs9676072	0.85[ASN][1000 genomes]
rs972357	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9748802	0.80[ASN][1000 genomes]

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	nsv1067252	chr18:29475073-29583744	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1065285	chr18:29527884-29614986	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29544200-29552000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:29545800-29551000	Weak transcription	Stomach Mucosa	stomach

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