Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56080025..56082249-chr1:56093163..56095810,2	K562	blood:

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs17112489	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17416725	1.00[EUR][1000 genomes]
rs17417072	1.00[EUR][1000 genomes]
rs41297891	1.00[EUR][1000 genomes]
rs41297893	1.00[EUR][1000 genomes]
rs55718597	0.84[EUR][1000 genomes]
rs55736946	0.84[EUR][1000 genomes]
rs56058312	0.92[EUR][1000 genomes]
rs56161495	0.84[EUR][1000 genomes]
rs56237538	0.84[EUR][1000 genomes]
rs56246158	0.84[EUR][1000 genomes]
rs57193275	0.84[EUR][1000 genomes]
rs57832473	0.84[EUR][1000 genomes]
rs61574505	0.84[EUR][1000 genomes]
rs72667829	0.84[EUR][1000 genomes]
rs72667830	0.84[EUR][1000 genomes]
rs72667831	0.84[EUR][1000 genomes]
rs72667834	0.84[EUR][1000 genomes]
rs72667835	0.84[EUR][1000 genomes]
rs72667840	0.84[EUR][1000 genomes]
rs72667842	0.84[EUR][1000 genomes]
rs72667844	0.84[EUR][1000 genomes]
rs72667851	0.84[EUR][1000 genomes]
rs72667861	0.92[EUR][1000 genomes]
rs72667865	0.92[EUR][1000 genomes]
rs72667866	0.92[EUR][1000 genomes]
rs72667868	0.92[EUR][1000 genomes]
rs72667875	0.92[EUR][1000 genomes]
rs72667878	1.00[EUR][1000 genomes]
rs72667890	0.92[EUR][1000 genomes]
rs72667893	0.92[EUR][1000 genomes]
rs72669719	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72669726	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669728	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72669729	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv461617	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv546303	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1014866	chr1:56059054-56129092	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56063200-56089000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:56077200-56086000	Weak transcription	Aorta	Aorta
3	chr1:56077400-56081400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:56079200-56080800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:56079200-56083800	Weak transcription	HSMM	muscle
6	chr1:56079400-56082400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:56080400-56080800	Enhancers	Fetal Lung	lung

Quick Search: