Variant report

Variant	rs28712861
Chromosome Location	chr2:190064504-190064505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190063477..190065170-chr2:190065320..190067995,2	MCF-7	breast:
2	chr2:190058157..190060811-chr2:190064432..190067391,2	MCF-7	breast:
3	chr2:190062458..190066163-chr2:190067446..190071057,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10165488	1.00[AMR][1000 genomes]
rs10166867	1.00[AMR][1000 genomes]
rs10168625	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10176299	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10180374	1.00[AMR][1000 genomes]
rs10182790	1.00[AMR][1000 genomes]
rs10182959	1.00[AMR][1000 genomes]
rs10190048	1.00[AMR][1000 genomes]
rs10193357	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10195176	1.00[AMR][1000 genomes]
rs10202897	1.00[AMR][1000 genomes]
rs10203522	1.00[AMR][1000 genomes]
rs10210715	1.00[AMR][1000 genomes]
rs13382234	1.00[AMR][1000 genomes]
rs13385828	1.00[AMR][1000 genomes]
rs13389070	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392441	1.00[AMR][1000 genomes]
rs13395385	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13396958	1.00[AMR][1000 genomes]
rs13398464	1.00[AMR][1000 genomes]
rs13401632	1.00[AMR][1000 genomes]
rs13405825	1.00[AMR][1000 genomes]
rs13407402	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13408124	1.00[AMR][1000 genomes]
rs13411962	1.00[AMR][1000 genomes]
rs13416565	1.00[AMR][1000 genomes]
rs13419998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13420752	1.00[AMR][1000 genomes]
rs13421412	1.00[AMR][1000 genomes]
rs13423791	1.00[AMR][1000 genomes]
rs13429781	1.00[AMR][1000 genomes]
rs13430867	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13431520	1.00[AMR][1000 genomes]
rs13433016	1.00[AMR][1000 genomes]
rs28475172	1.00[AMR][1000 genomes]
rs28763874	1.00[AMR][1000 genomes]
rs28763875	1.00[AMR][1000 genomes]
rs59459440	1.00[AMR][1000 genomes]
rs6712385	1.00[AMR][1000 genomes]
rs6732228	1.00[AMR][1000 genomes]
rs73981448	1.00[AMR][1000 genomes]
rs73981451	1.00[AMR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190056800-190069400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:190057200-190068200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:190064200-190065000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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