Variant report

Variant	rs8086401
Chromosome Location	chr18:43550615-43550616
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	chr18:43548996..43552453-chr18:43650910..43654147,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152229	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10432160	0.88[ASN][1000 genomes]
rs10432197	0.88[ASN][1000 genomes]
rs11082499	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11082501	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12232683	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12454420	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12604430	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12604492	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1371976	0.85[ASN][1000 genomes]
rs1573404	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2004085	0.85[ASN][1000 genomes]
rs28430300	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28729696	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34775986	0.83[ASN][1000 genomes]
rs3745000	0.81[ASN][1000 genomes]
rs475452	0.88[ASN][1000 genomes]
rs481755	0.87[ASN][1000 genomes]
rs57011365	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57531499	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58306126	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58312765	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs584397	0.81[ASN][1000 genomes]
rs59884993	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60288752	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60866799	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61363974	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61680317	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs630625	0.88[ASN][1000 genomes]
rs6507648	0.85[ASN][1000 genomes]
rs6507652	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7226881	0.85[ASN][1000 genomes]
rs7230104	0.83[ASN][1000 genomes]
rs7234750	0.85[ASN][1000 genomes]
rs7235022	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7235629	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7237861	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918390	0.85[ASN][1000 genomes]
rs73953913	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73953914	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8087546	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8088080	0.85[ASN][1000 genomes]
rs8093119	0.90[ASN][1000 genomes]
rs8094023	0.85[ASN][1000 genomes]
rs8097415	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8098012	0.84[ASN][1000 genomes]
rs8098701	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9946797	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9946933	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9948988	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9955285	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9955829	0.84[ASN][1000 genomes]
rs9957288	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9958844	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9959763	0.80[ASN][1000 genomes]
rs9959893	0.85[ASN][1000 genomes]
rs9962353	0.84[ASN][1000 genomes]
rs9963463	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9964220	0.85[ASN][1000 genomes]
rs9964347	0.83[ASN][1000 genomes]
rs9965433	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[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	nsv909588	chr18:43474795-43554371	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv2277	chr18:43543715-43588579	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr18:43548000-43567000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:43548200-43553400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr18:43548200-43553600	Weak transcription	Osteobl	bone
4	chr18:43548200-43553800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:43548200-43553800	Weak transcription	NHDF-Ad	bronchial
6	chr18:43548200-43554000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:43548200-43554000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr18:43548200-43556800	Weak transcription	NHLF	lung
9	chr18:43548200-43562800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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