Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84920192..84922937-chr1:84925832..84927585,2	K562	blood:
2	chr1:78469143..78471387-chr1:84926458..84928901,2	K562	blood:

Variant related genes	Relation type
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12029581	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs12032962	0.85[ASN][1000 genomes]
rs12034438	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs12042338	0.96[ASN][1000 genomes]
rs1246392	0.91[CHB][hapmap]
rs1340595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1506700	0.91[CHB][hapmap]
rs1981254	0.91[CHB][hapmap]
rs2063037	0.85[ASN][1000 genomes]
rs2066197	0.87[ASN][1000 genomes]
rs3116415	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs3121147	0.90[CHB][hapmap]
rs472601	0.91[CHB][hapmap]
rs4907070	0.86[ASN][1000 genomes]
rs507772	0.91[CHB][hapmap]
rs553775	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs601564	0.90[CHB][hapmap]
rs6576700	0.91[CHB][hapmap]
rs6576708	0.85[ASN][1000 genomes]
rs6663802	0.90[CHB][hapmap]
rs679725	0.91[CHB][hapmap]
rs925014	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr1:84926600-84927600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:84926600-84927800	Weak transcription	Monocytes-CD14+_RO01746	blood

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