Variant report

No.	Distal block	Cell Line	Cell type
1	chr14:55030910..55034480-chr14:55271107..55275366,4	K562	blood:
2	chr14:55032192..55035403-chr14:55273371..55275783,3	K562	blood:
3	chr14:55273057..55275787-chr14:55279144..55281055,2	K562	blood:

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1114050	0.86[CEU][hapmap];0.83[JPT][hapmap]
rs1114051	0.85[CEU][hapmap]
rs11158025	0.97[EUR][1000 genomes]
rs11431	0.81[CEU][hapmap]
rs12147333	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12886835	0.81[EUR][1000 genomes]
rs2281652	0.81[CEU][hapmap]
rs2281653	0.88[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs4402472	0.86[CEU][hapmap]
rs4409990	0.86[CEU][hapmap]
rs4506812	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs4511452	0.85[EUR][1000 genomes]
rs4898855	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6572975	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs6572977	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs6572980	0.86[CEU][hapmap]
rs709939	0.81[CEU][hapmap]
rs7150498	0.92[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes]
rs7150628	0.86[CEU][hapmap]
rs8021151	0.85[CEU][hapmap]
rs8021325	0.86[CEU][hapmap]
rs8021957	0.92[CEU][hapmap]
rs8022503	0.86[CEU][hapmap]
rs911614	0.81[CEU][hapmap]
rs927382	0.85[CEU][hapmap]
rs927383	0.86[CEU][hapmap]
rs971256	0.90[JPT][hapmap]

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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv983826	chr14:55273339-55282030	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55272600-55276600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:55273000-55281400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:55274000-55275600	Bivalent Enhancer	HepG2	liver
4	chr14:55274800-55275000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:55274800-55275000	Enhancers	Spleen	Spleen

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