Variant report

Variant	rs74086009
Chromosome Location	chr13:53276357-53276358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs55875061	1.00[AFR][1000 genomes]
rs56373931	0.85[AFR][1000 genomes]
rs56763074	1.00[AFR][1000 genomes]
rs57557507	1.00[AFR][1000 genomes]
rs60220067	1.00[AFR][1000 genomes]
rs61364393	0.85[AFR][1000 genomes]
rs61683758	0.82[AFR][1000 genomes]
rs74087358	0.81[AFR][1000 genomes]
rs74087361	0.85[AFR][1000 genomes]
rs74087365	0.85[AFR][1000 genomes]
rs74087370	0.85[AFR][1000 genomes]
rs74087371	0.85[AFR][1000 genomes]
rs74087372	0.85[AFR][1000 genomes]
rs74087373	0.85[AFR][1000 genomes]
rs74087375	0.85[AFR][1000 genomes]
rs74087401	0.85[AFR][1000 genomes]
rs74088603	0.85[AFR][1000 genomes]
rs74088607	0.85[AFR][1000 genomes]
rs74088612	0.85[AFR][1000 genomes]
rs74088617	0.85[AFR][1000 genomes]
rs74088619	0.85[AFR][1000 genomes]
rs74088623	0.85[AFR][1000 genomes]
rs74088624	0.85[AFR][1000 genomes]
rs74088630	0.92[AFR][1000 genomes]
rs74088631	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv820041	chr13:53061338-53280588	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1044949	chr13:53071140-53289426	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1044051	chr13:53139132-53287023	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1038942	chr13:53139132-53289426	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1039911	chr13:53139132-53303074	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1037189	chr13:53173013-53287060	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv541775	chr13:53173013-53287060	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv1047265	chr13:53173013-53311419	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv541776	chr13:53173013-53311419	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53229000-53276600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:53230800-53277400	Weak transcription	Gastric	stomach
3	chr13:53242800-53278600	Weak transcription	Psoas Muscle	Psoas
4	chr13:53255800-53277600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:53256000-53282600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:53256600-53297800	Weak transcription	Pancreas	Pancrea
7	chr13:53260000-53277600	Weak transcription	Brain Hippocampus Middle	brain
8	chr13:53260200-53277600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:53260400-53279200	Weak transcription	Aorta	Aorta
10	chr13:53260800-53280400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr13:53260800-53297000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:53261000-53285200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:53262400-53276600	Weak transcription	Placenta	Placenta
14	chr13:53262400-53276800	Weak transcription	NH-A	brain
15	chr13:53262600-53285600	Weak transcription	HMEC	breast
16	chr13:53262800-53277800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr13:53263000-53281800	Weak transcription	Fetal Brain Male	brain
18	chr13:53263400-53276800	Weak transcription	HSMMtube	muscle
19	chr13:53263400-53277200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr13:53263400-53277800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr13:53263400-53278200	Weak transcription	Fetal Lung	lung
22	chr13:53263400-53285400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:53265200-53277600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr13:53266400-53277200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr13:53267600-53277600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr13:53268400-53276400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:53270000-53278200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:53270400-53276800	Weak transcription	NHDF-Ad	bronchial
29	chr13:53270800-53282400	Weak transcription	Fetal Brain Female	brain
30	chr13:53272400-53297400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr13:53273200-53279200	Weak transcription	Left Ventricle	heart
32	chr13:53274200-53285400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr13:53274400-53279200	Weak transcription	Liver	Liver
34	chr13:53274800-53277200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr13:53275000-53278600	Weak transcription	HSMM	muscle
36	chr13:53275000-53278800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:53275200-53277200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:53275200-53278400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:53275200-53278800	Enhancers	Primary hematopoietic stem cells	blood
40	chr13:53275400-53279400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr13:53275400-53280200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr13:53275800-53276400	Enhancers	Fetal Heart	heart
43	chr13:53275800-53276400	Enhancers	K562	blood
44	chr13:53275800-53277200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr13:53275800-53277400	Enhancers	HUVEC	blood vessel
46	chr13:53275800-53278200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:53276000-53276400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr13:53276000-53276600	Enhancers	Brain Anterior Caudate	brain
49	chr13:53276000-53276800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:53276000-53278400	Enhancers	HUES6 Cell Line	embryonic stem cell

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