Variant report

Variant	rs10496052
Chromosome Location	chr2:56010473-56010474
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	chr2:56008821..56010807-chr2:56013593..56015981,2	MCF-7	breast:
2	chr2:56005948..56008265-chr2:56009209..56011349,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10496051	0.91[CEU][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11125602	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11888377	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11893573	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12464737	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12615158	0.81[AMR][1000 genomes]
rs1346789	0.84[EUR][1000 genomes]
rs1346794	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1430202	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17047234	0.90[EUR][1000 genomes]
rs1946545	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1985163	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2009262	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3791675	0.86[CEU][hapmap];0.90[MEX][hapmap]
rs3791679	0.86[CEU][hapmap];0.90[MEX][hapmap]
rs4146921	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4146922	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4347871	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58027672	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58680090	0.87[EUR][1000 genomes]
rs59556444	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62164463	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62167688	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62167689	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62167713	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6724369	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6752931	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs732132	0.82[AMR][1000 genomes]
rs7560657	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7563032	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7574127	0.83[AMR][1000 genomes]
rs7590753	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7591694	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7601401	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv999962	chr2:55976574-56011517	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv997683	chr2:55976574-56013875	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv431080	chr2:55988293-56011517	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10496052	ASB3	cis	cerebellum	SCAN
rs10496052	EFEMP1	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55989400-56015000	Weak transcription	Aorta	Aorta
2	chr2:56009400-56010600	Enhancers	A549	lung
3	chr2:56009600-56010800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr2:56009800-56011600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:56010000-56010600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:56010000-56010600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:56010200-56012800	Weak transcription	Brain Anterior Caudate	brain
8	chr2:56010400-56010600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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