Variant report

Variant	rs57599963
Chromosome Location	chr2:100128981-100128982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100126383..100128691-chr2:100128745..100131572,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17022741	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022788	0.83[EUR][1000 genomes]
rs2167339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3087387	0.83[AMR][1000 genomes]
rs56684522	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093686	0.83[AMR][1000 genomes]
rs57668619	0.83[EUR][1000 genomes]
rs57969550	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58226642	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58780429	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59311105	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59753430	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59859749	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60633946	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707685	0.83[AMR][1000 genomes]
rs6723062	0.83[AMR][1000 genomes]
rs6745673	0.83[EUR][1000 genomes]
rs6761053	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761507	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964150	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964151	1.00[AMR][1000 genomes]
rs73964152	0.83[AMR][1000 genomes]
rs73964155	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964157	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964158	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964166	0.83[EUR][1000 genomes]
rs7568990	0.83[AMR][1000 genomes]
rs7570405	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7571186	0.83[AMR][1000 genomes]
rs7595242	0.83[AMR][1000 genomes];1.00[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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100128000-100129200	Enhancers	Duodenum Smooth Muscle	Duodenum
2	chr2:100128000-100129400	Enhancers	Colon Smooth Muscle	Colon
3	chr2:100128000-100129400	Enhancers	Rectal Smooth Muscle	rectum
4	chr2:100128400-100129000	Active TSS	Stomach Smooth Muscle	stomach
5	chr2:100128400-100129200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:100128600-100129000	Enhancers	Fetal Heart	heart
7	chr2:100128600-100129000	Enhancers	Fetal Lung	lung
8	chr2:100128800-100129200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:100128800-100129200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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