Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:197193041..197193592-chr1:197305034..197305672,2	MCF-7	breast:
2	chr1:197147159..197149078-chr1:197192241..197194774,2	MCF-7	breast:
3	chr1:197169269..197170964-chr1:197192180..197194150,2	K562	blood:
4	chr1:197193137..197194020-chr1:197325790..197326689,5	MCF-7	breast:
5	chr1:197185992..197188090-chr1:197191988..197194131,2	K562	blood:

Variant related genes	Relation type
ENSG00000177888	Chromatin interaction
ENSG00000134376	Chromatin interaction

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

rs_ID	r²[population]
rs10494748	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10494749	1.00[AMR][1000 genomes]
rs10494750	1.00[AMR][1000 genomes]
rs10494751	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11800461	1.00[AMR][1000 genomes]
rs11801772	1.00[AMR][1000 genomes]
rs11803081	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11808524	1.00[AMR][1000 genomes]
rs11808883	1.00[AMR][1000 genomes]
rs11809963	0.87[AMR][1000 genomes]
rs11810041	0.85[AMR][1000 genomes]
rs11811295	1.00[AMR][1000 genomes]
rs11811814	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1337165	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841212	1.00[AMR][1000 genomes]
rs16841214	1.00[AMR][1000 genomes]
rs16841219	1.00[AMR][1000 genomes]
rs16841220	1.00[AMR][1000 genomes]
rs16841237	0.81[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61170532	0.82[AFR][1000 genomes];1.00[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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197172600-197194200	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:197190000-197204400	Weak transcription	Left Ventricle	heart
3	chr1:197190200-197203000	Weak transcription	Aorta	Aorta
4	chr1:197191800-197194400	Weak transcription	Fetal Lung	lung

Quick Search: