Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:90725590..90726217-chr5:92493530..92494422,2	MCF-7	breast:
2	chr5:92492798..92494347-chr5:92496334..92499006,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10428629	0.81[EUR][1000 genomes]
rs10514371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951631	0.89[EUR][1000 genomes]
rs11960764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17288882	0.86[ASN][1000 genomes]
rs59636184	0.88[EUR][1000 genomes]
rs6557065	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879703	0.82[EUR][1000 genomes]
rs6884717	0.88[EUR][1000 genomes]
rs72784407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784408	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784412	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72784413	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72784415	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72784417	0.85[EUR][1000 genomes]
rs72784426	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7341012	0.88[EUR][1000 genomes]
rs7729235	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733100	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9764312	0.89[EUR][1000 genomes]

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	nsv1015770	chr5:91911877-92498264	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1029175	chr5:92436038-92548473	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92486600-92496400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:92486600-92498200	Weak transcription	Aorta	Aorta
3	chr5:92487800-92494200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:92488000-92494400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:92488200-92494600	Weak transcription	NHLF	lung
6	chr5:92488400-92494200	Weak transcription	NHDF-Ad	bronchial
7	chr5:92488400-92494400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:92488400-92494400	Weak transcription	Osteobl	bone
9	chr5:92488600-92494200	Weak transcription	HSMM	muscle
10	chr5:92490800-92494200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:92493600-92494400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:92494000-92494200	Enhancers	HepG2	liver
13	chr5:92494000-92498200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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