Variant report

Variant	rs12542034
Chromosome Location	chr8:121995042-121995043
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121989452..121992129-chr8:121993364..121995209,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10505385	0.96[EUR][1000 genomes]
rs1368598	0.98[ASN][1000 genomes]
rs1368599	0.98[ASN][1000 genomes]
rs1368600	0.98[ASN][1000 genomes]
rs1433395	0.96[ASN][1000 genomes]
rs1560773	1.00[ASN][1000 genomes]
rs1560774	1.00[ASN][1000 genomes]
rs1560775	1.00[ASN][1000 genomes]
rs1623074	0.99[ASN][1000 genomes]
rs1625519	0.99[ASN][1000 genomes]
rs1626939	0.99[ASN][1000 genomes]
rs1630924	0.98[ASN][1000 genomes]
rs1654997	0.96[ASN][1000 genomes]
rs1654999	0.96[ASN][1000 genomes]
rs1655003	0.98[ASN][1000 genomes]
rs1655004	0.98[ASN][1000 genomes]
rs1655005	0.99[ASN][1000 genomes]
rs1655007	0.99[ASN][1000 genomes]
rs1655010	1.00[ASN][1000 genomes]
rs1655012	0.98[ASN][1000 genomes]
rs1655013	1.00[ASN][1000 genomes]
rs1655015	0.99[ASN][1000 genomes]
rs16894470	0.96[EUR][1000 genomes]
rs16894477	0.96[EUR][1000 genomes]
rs16894478	0.96[EUR][1000 genomes]
rs16894479	0.96[EUR][1000 genomes]
rs16894488	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16894521	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16894630	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1714641	0.94[ASN][1000 genomes]
rs1714656	0.96[ASN][1000 genomes]
rs1714657	0.96[ASN][1000 genomes]
rs1714660	0.93[ASN][1000 genomes]
rs1714661	0.96[ASN][1000 genomes]
rs1714665	0.99[ASN][1000 genomes]
rs1714667	0.99[ASN][1000 genomes]
rs1714668	0.99[ASN][1000 genomes]
rs1714669	1.00[ASN][1000 genomes]
rs17196440	0.99[ASN][1000 genomes]
rs17196489	0.99[ASN][1000 genomes]
rs17256063	0.99[ASN][1000 genomes]
rs2386233	0.99[ASN][1000 genomes]
rs2570065	0.96[ASN][1000 genomes]
rs2570068	1.00[ASN][1000 genomes]
rs2680582	0.96[ASN][1000 genomes]
rs41509847	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871145	0.96[EUR][1000 genomes]
rs4871146	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56040246	0.91[EUR][1000 genomes]
rs715236	0.96[ASN][1000 genomes]
rs715237	0.96[ASN][1000 genomes]
rs715238	0.96[ASN][1000 genomes]
rs72711625	0.96[EUR][1000 genomes]
rs72711628	0.96[EUR][1000 genomes]
rs72711672	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72711677	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72711678	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs919849	0.99[ASN][1000 genomes]
rs919850	0.99[ASN][1000 genomes]
rs919851	0.99[ASN][1000 genomes]
rs9643153	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv891425	chr8:121875083-122025559	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription 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
rs12542034	SNTB1	cis	brain	BrainEAC

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121989600-121997800	Weak transcription	HSMM	muscle
2	chr8:121989800-122001200	Weak transcription	Osteobl	bone
3	chr8:121990200-122001000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:121993000-121996800	Weak transcription	HMEC	breast

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