Variant report

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:180553221..180556764-chr1:180577641..180580493,4	K562	blood:
2	chr1:180554977..180557237-chr1:180558179..180559941,2	K562	blood:
3	chr1:180554771..180558903-chr1:180568895..180571854,4	K562	blood:
4	chr1:180556032..180558052-chr1:180560561..180562068,2	K562	blood:
5	chr1:180551712..180554824-chr1:180555012..180557601,3	K562	blood:
6	chr1:180553661..180556688-chr1:180599992..180601805,3	MCF-7	breast:
7	chr1:180545102..180548047-chr1:180554770..180556756,2	MCF-7	breast:
8	chr1:180555777..180557389-chr1:180601173..180603733,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143324	Chromatin interaction

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

rs_ID	r²[population]
rs12565152	0.84[AMR][1000 genomes]
rs1556938	0.85[AMR][1000 genomes]
rs2153327	0.84[AMR][1000 genomes]
rs2331742	0.84[AMR][1000 genomes]
rs41267628	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41267632	1.00[AFR][1000 genomes]
rs41267634	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4652510	0.84[AMR][1000 genomes]
rs61809269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61809270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61809271	1.00[AFR][1000 genomes]
rs61809273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811627	0.84[AMR][1000 genomes]
rs61811628	0.84[AMR][1000 genomes]
rs61811635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6425647	0.84[AMR][1000 genomes]
rs6665615	0.84[AMR][1000 genomes]
rs946634	0.84[AMR][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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180553600-180557000	Enhancers	HepG2	liver
2	chr1:180554000-180557000	Enhancers	HMEC	breast
3	chr1:180554000-180557200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:180554200-180556800	Enhancers	Osteobl	bone
5	chr1:180554600-180556800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:180554600-180556800	Enhancers	A549	lung
7	chr1:180555200-180556800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:180555200-180557000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:180555400-180556800	Enhancers	NHEK	skin
10	chr1:180556200-180561600	Weak transcription	Left Ventricle	heart
11	chr1:180556600-180561600	Weak transcription	Pancreas	Pancrea

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