Variant report

Variant	rs11209986
Chromosome Location	chr1:73089344-73089345
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:73088631..73089551-chr1:73310778..73311326,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10443263	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10493505	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10889968	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889983	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10889984	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11209988	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11209999	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11210017	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11210027	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11210030	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11582068	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11589065	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12024784	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12029382	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12038578	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12042334	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12047199	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12119472	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12119654	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12122859	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12126227	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12127252	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12128913	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12137919	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12141788	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12145832	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12406649	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12725368	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12726880	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12726957	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12727294	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12743848	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2243622	0.86[ASN][1000 genomes]
rs2265053	0.86[ASN][1000 genomes]
rs4128304	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4147191	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4255334	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4259588	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4292903	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4294370	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4372200	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4424448	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4638064	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4650145	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4650146	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6687187	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6691430	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6691978	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7514475	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7517246	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7520480	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7526444	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9645299	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422432	chr1:72821856-73148651	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv871074	chr1:72987229-73100055	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv546564	chr1:73010123-73101763	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv546565	chr1:73015588-73090608	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv428101	chr1:73017520-73211351	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv871371	chr1:73048685-73152104	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv871636	chr1:73048685-73274919	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv2763560	chr1:73077448-73122262	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv871181	chr1:73084221-73305593	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73089000-73089400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:73089000-73089400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:73089000-73089400	Active TSS	Primary T cells from cord blood	blood
4	chr1:73089000-73089400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:73089000-73089400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:73089000-73089400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:73089000-73089400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:73089000-73089400	Active TSS	Brain Angular Gyrus	brain
9	chr1:73089000-73089400	Active TSS	Brain Anterior Caudate	brain
10	chr1:73089000-73089400	Active TSS	Brain Cingulate Gyrus	brain
11	chr1:73089000-73089400	Active TSS	Brain Hippocampus Middle	brain
12	chr1:73089000-73089400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:73089000-73089400	Active TSS	Brain Substantia Nigra	brain
14	chr1:73089000-73089400	Active TSS	Duodenum Mucosa	Duodenum
15	chr1:73089000-73089400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:73089000-73089400	Active TSS	Fetal Kidney	kidney
17	chr1:73089000-73089400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:73089000-73089400	Active TSS	Fetal Lung	lung
19	chr1:73089000-73089400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr1:73089000-73089400	Active TSS	Rectal Smooth Muscle	rectum
21	chr1:73089000-73089400	Active TSS	Right Atrium	heart
22	chr1:73089000-73089400	Active TSS	Stomach Mucosa	stomach
23	chr1:73089000-73089400	Active TSS	Thymus	Thymus
24	chr1:73089000-73089400	Enhancers	Dnd41	blood
25	chr1:73089000-73089400	Active TSS	GM12878-XiMat	blood
26	chr1:73089000-73089400	Active TSS	HSMMtube	muscle
27	chr1:73089000-73089400	Active TSS	NHLF	lung
28	chr1:73089000-73089600	Active TSS	Aorta	Aorta
29	chr1:73089200-73089400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:73089200-73089400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:73089200-73089400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:73089200-73089400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:73089200-73089400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr1:73089200-73089400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr1:73089200-73089400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr1:73089200-73089400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:73089200-73089400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr1:73089200-73089400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:73089200-73089400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:73089200-73089400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr1:73089200-73089400	Flanking Active TSS	Liver	Liver
42	chr1:73089200-73089400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr1:73089200-73089400	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr1:73089200-73089400	Enhancers	Left Ventricle	heart
45	chr1:73089200-73089400	Enhancers	Pancreas	Pancrea
46	chr1:73089200-73089400	Enhancers	Psoas Muscle	Psoas
47	chr1:73089200-73089400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr1:73089200-73089400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr1:73089200-73089400	Flanking Active TSS	HSMM	muscle
50	chr1:73089200-73089400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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