Variant report

Variant	rs9383793
Chromosome Location	chr6:150659881-150659882
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	chr6:150652940..150655657-chr6:150657014..150660003,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12055507	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12055585	0.92[CEU][hapmap];0.85[TSI][hapmap];0.94[YRI][hapmap]
rs1538484	0.84[ASN][1000 genomes]
rs1890519	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1890520	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2344747	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4479947	0.81[AFR][1000 genomes]
rs61650392	0.94[ASN][1000 genomes]
rs623829	0.88[ASN][1000 genomes]
rs623882	0.86[ASN][1000 genomes]
rs62434569	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs628496	0.81[ASN][1000 genomes]
rs6901397	0.89[ASN][1000 genomes]
rs6915103	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6919940	0.81[AFR][1000 genomes]
rs6940067	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6940396	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs868247	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs884678	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs884679	0.92[ASN][1000 genomes]
rs9371954	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9371955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9383792	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9384412	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9397882	0.82[EUR][1000 genomes];0.94[ASN][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	nsv830843	chr6:150517411-150691173	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2763602	chr6:150581193-150720666	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9383793	ESR1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150645600-150663000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:150658000-150662200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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