Variant report

Variant	rs493437
Chromosome Location	chr11:84148207-84148208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs489716	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs504196	0.83[AMR][1000 genomes]
rs505025	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs518248	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs567263	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs568789	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs583862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606277	0.81[EUR][1000 genomes]
rs610289	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs672796	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1038641	chr11:83996453-84334045	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541103	chr11:83996453-84334045	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv898031	chr11:84060342-84379671	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1047030	chr11:84067493-84187274	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1041755	chr11:84067493-84315623	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv541104	chr11:84067493-84315623	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv817504	chr11:84070883-84301151	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1052925	chr11:84092727-84274689	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1050876	chr11:84128705-84262927	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv541105	chr11:84128705-84262927	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84147400-84148800	Active TSS	Brain Angular Gyrus	brain
2	chr11:84147400-84149200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr11:84147600-84148800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:84147800-84148400	Active TSS	Fetal Brain Female	brain
5	chr11:84147800-84148800	Active TSS	Brain Cingulate Gyrus	brain
6	chr11:84147800-84148800	Active TSS	Fetal Stomach	stomach
7	chr11:84147800-84150200	Enhancers	Fetal Heart	heart
8	chr11:84148000-84148400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:84148000-84148400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:84148000-84148600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:84148000-84148600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:84148000-84148600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:84148000-84149000	Active TSS	Brain Anterior Caudate	brain
14	chr11:84148000-84149000	Bivalent Enhancer	GM12878-XiMat	blood
15	chr11:84148000-84149200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:84148000-84149200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:84148200-84148400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:84148200-84148400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:84148200-84148400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
20	chr11:84148200-84148400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr11:84148200-84148400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:84148200-84148400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:84148200-84148400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:84148200-84148400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:84148200-84148400	Active TSS	Fetal Intestine Large	intestine
26	chr11:84148200-84148400	Enhancers	Pancreas	Pancrea
27	chr11:84148200-84148400	Bivalent/Poised TSS	NHEK	skin
28	chr11:84148200-84148600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:84148200-84148600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr11:84148200-84148600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:84148200-84148600	Enhancers	Primary B cells from peripheral blood	blood
32	chr11:84148200-84148600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:84148200-84148600	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr11:84148200-84148800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr11:84148200-84148800	Flanking Active TSS	Fetal Brain Male	brain
36	chr11:84148200-84148800	Active TSS	Fetal Kidney	kidney
37	chr11:84148200-84148800	Enhancers	Fetal Muscle Leg	muscle
38	chr11:84148200-84149000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr11:84148200-84149000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr11:84148200-84149000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:84148200-84149000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:84148200-84149000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:84148200-84149000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:84148200-84149000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:84148200-84149000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:84148200-84149000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:84148200-84149000	Active TSS	Brain Substantia Nigra	brain
48	chr11:84148200-84149000	Enhancers	Ovary	ovary
49	chr11:84148200-84149200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
50	chr11:84148200-84149200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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