Variant report

Variant	rs4492189
Chromosome Location	chr6:13026552-13026553
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	chr6:13026402..13029153-chr6:13041803..13044257,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10807388	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758659	0.90[EUR][1000 genomes]
rs12216401	0.95[ASN][1000 genomes]
rs1579135	0.90[ASN][1000 genomes]
rs1937771	0.92[ASN][1000 genomes]
rs34576660	0.81[EUR][1000 genomes]
rs4132046	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4236097	0.81[EUR][1000 genomes]
rs4292514	0.95[ASN][1000 genomes]
rs4349811	0.89[EUR][1000 genomes]
rs4357136	0.92[ASN][1000 genomes]
rs4367379	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4432976	0.95[ASN][1000 genomes]
rs4580867	0.95[ASN][1000 genomes]
rs4624870	0.94[ASN][1000 genomes]
rs4715048	0.89[EUR][1000 genomes]
rs5002331	0.95[ASN][1000 genomes]
rs6924689	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341250	0.90[EUR][1000 genomes]
rs7738606	0.95[ASN][1000 genomes]
rs7748124	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9349456	0.95[ASN][1000 genomes]
rs9369759	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9369760	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9369768	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9369779	0.90[ASN][1000 genomes]
rs9369815	0.92[ASN][1000 genomes]
rs9381636	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9395335	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9463363	0.89[EUR][1000 genomes]
rs9463364	0.88[EUR][1000 genomes]
rs9473198	0.89[EUR][1000 genomes]
rs9473437	0.92[ASN][1000 genomes]
rs9473486	0.89[ASN][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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13015600-13027600	Weak transcription	Right Atrium	heart
2	chr6:13015800-13029000	Weak transcription	Pancreas	Pancrea
3	chr6:13020800-13028800	Weak transcription	Left Ventricle	heart
4	chr6:13024200-13026600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:13024600-13027000	Enhancers	Brain Cingulate Gyrus	brain
6	chr6:13024600-13027600	Enhancers	Brain Angular Gyrus	brain
7	chr6:13024600-13030800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:13024800-13027400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:13025600-13027600	Enhancers	Fetal Brain Male	brain
10	chr6:13025600-13031800	Enhancers	Fetal Heart	heart
11	chr6:13025800-13026600	Enhancers	Fetal Brain Female	brain
12	chr6:13025800-13027000	Enhancers	Colon Smooth Muscle	Colon
13	chr6:13025800-13027000	Enhancers	NHDF-Ad	bronchial
14	chr6:13026000-13026800	Active TSS	Stomach Smooth Muscle	stomach
15	chr6:13026000-13027000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:13026000-13027000	Enhancers	HSMMtube	muscle
17	chr6:13026000-13027400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:13026000-13027800	Enhancers	Brain Anterior Caudate	brain
19	chr6:13026000-13031200	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:13026200-13026600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:13026200-13027000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:13026200-13027000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:13026200-13027000	Active TSS	Aorta	Aorta
24	chr6:13026200-13027200	Enhancers	Fetal Stomach	stomach
25	chr6:13026200-13027400	Enhancers	HSMM	muscle
26	chr6:13026400-13026600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:13026400-13026600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:13026400-13027000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:13026400-13027000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr6:13026400-13027000	Enhancers	Right Ventricle	heart
31	chr6:13026400-13028000	Enhancers	Primary hematopoietic stem cells	blood

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