Variant report

Variant	rs28571005
Chromosome Location	chr1:185714093-185714094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185703227..185705964-chr1:185713601..185716556,3	MCF-7	breast:
2	chr1:185702749..185704778-chr1:185712860..185715122,2	K562	blood:

Variant related genes	Relation type
ENSG00000143341	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10127552	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12239000	0.91[AFR][1000 genomes]
rs28507443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41317459	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57642813	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57646071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57647869	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61492840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6675790	0.91[AFR][1000 genomes]
rs6686746	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6689317	0.91[AFR][1000 genomes]
rs6701269	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701921	0.91[AFR][1000 genomes]
rs6703750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054405	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054410	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054419	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73054444	0.80[AFR][1000 genomes]
rs73054452	0.91[AFR][1000 genomes]
rs73054473	0.91[AFR][1000 genomes]
rs73058244	0.91[AFR][1000 genomes]
rs73058248	0.91[AFR][1000 genomes]
rs73058365	0.89[AFR][1000 genomes]
rs73058371	0.82[AFR][1000 genomes]
rs73058381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73058387	1.00[AMR][1000 genomes]
rs73058389	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73058395	1.00[AMR][1000 genomes]
rs73060472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73060496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73062507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070588	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73070595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072073	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7514923	1.00[AMR][1000 genomes]
rs9727715	1.00[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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv2753636	chr1:185706947-185734487	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185705200-185717000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:185712800-185717000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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