Variant report

Variant	rs1443683
Chromosome Location	chr5:112656525-112656526
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	chr5:112628328..112630254-chr5:112656025..112657722,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10077020	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10428666	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10900685	0.86[JPT][hapmap]
rs1116547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11241197	0.89[AMR][1000 genomes]
rs11241201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11241206	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11738075	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11738215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11741794	0.85[AMR][1000 genomes]
rs11741937	0.88[AMR][1000 genomes]
rs11746532	0.80[AMR][1000 genomes]
rs11748465	0.85[AMR][1000 genomes]
rs11748503	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11748524	0.83[AMR][1000 genomes]
rs11749864	0.81[AMR][1000 genomes]
rs12514091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516418	0.86[JPT][hapmap]
rs12519753	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12520003	1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12523027	0.89[AMR][1000 genomes]
rs12523255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12523284	0.85[AMR][1000 genomes]
rs13360719	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517209	0.86[ASN][1000 genomes]
rs1586943	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17135526	0.80[AMR][1000 genomes]
rs17135531	0.80[AMR][1000 genomes]
rs17135546	0.83[AMR][1000 genomes]
rs17135597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17135608	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17135616	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17135630	0.85[JPT][hapmap]
rs1833678	1.00[JPT][hapmap]
rs1838208	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1845289	0.80[AMR][1000 genomes]
rs1850410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2068923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846721	1.00[JPT][hapmap]
rs3846722	0.86[JPT][hapmap]
rs4705551	0.86[JPT][hapmap]
rs4705814	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4705817	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4705818	0.84[ASN][1000 genomes]
rs4705819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs62374372	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66728961	0.86[ASN][1000 genomes]
rs67764628	0.82[ASN][1000 genomes]
rs6864528	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6877524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878001	0.86[JPT][hapmap]
rs6879800	0.86[JPT][hapmap]
rs6883441	0.86[JPT][hapmap]
rs73236478	0.84[ASN][1000 genomes]
rs73246629	0.83[AMR][1000 genomes]
rs73246681	0.85[AMR][1000 genomes]
rs7707443	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7717000	0.86[JPT][hapmap]
rs957777	1.00[JPT][hapmap]
rs9800316	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112648800-112666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112653000-112673600	Weak transcription	Fetal Kidney	kidney
3	chr5:112655000-112657600	Enhancers	Liver	Liver
4	chr5:112655400-112657400	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:112655600-112656600	Enhancers	HepG2	liver
6	chr5:112655800-112656800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:112655800-112658600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:112655800-112658800	Weak transcription	Placenta	Placenta
9	chr5:112656000-112656600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:112656000-112656600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:112656000-112656600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr5:112656000-112656800	Enhancers	GM12878-XiMat	blood
13	chr5:112656000-112657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:112656000-112666200	Weak transcription	HMEC	breast
15	chr5:112656200-112656600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:112656200-112661200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:112656400-112656600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:112656400-112657200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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