Variant report

Variant	rs62023490
Chromosome Location	chr15:53079024-53079025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16965171	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16965179	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55781920	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61735385	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62023486	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62023487	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62023488	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62023489	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62023492	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62023493	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8025128	0.84[AMR][1000 genomes];0.98[EUR][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	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv457142	chr15:53041887-53091896	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	nsv569427	chr15:53041887-53091896	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	nsv1046970	chr15:53065114-53142386	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
6	nsv569428	chr15:53069874-53140045	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53075400-53081000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
2	chr15:53075400-53082000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr15:53075600-53079200	Active TSS	Pancreas	Pancrea
4	chr15:53075600-53079800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr15:53075600-53081200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr15:53075600-53082000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr15:53075600-53083600	Bivalent Enhancer	Fetal Brain Male	brain
8	chr15:53075800-53082200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
9	chr15:53076200-53079400	Enhancers	Gastric	stomach
10	chr15:53076200-53079600	Bivalent Enhancer	Left Ventricle	heart
11	chr15:53076400-53083800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr15:53076600-53080600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:53076600-53081800	Bivalent Enhancer	Spleen	Spleen
14	chr15:53077000-53079600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:53077200-53080400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:53077200-53080600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:53077400-53081600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:53077600-53080600	Bivalent Enhancer	Brain Hippocampus Middle	brain
19	chr15:53077800-53081200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr15:53077800-53081600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:53077800-53081800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:53078000-53079600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
23	chr15:53078000-53080000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr15:53078000-53080400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
25	chr15:53078000-53081600	Bivalent Enhancer	Brain Germinal Matrix	brain
26	chr15:53078200-53080000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:53078600-53079400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:53078600-53079600	Bivalent Enhancer	Right Ventricle	heart
29	chr15:53078600-53080200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr15:53078600-53081000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
31	chr15:53078800-53079200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr15:53078800-53079400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:53078800-53079400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
34	chr15:53078800-53079400	Bivalent Enhancer	Lung	lung
35	chr15:53078800-53079400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr15:53078800-53079600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:53078800-53079600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr15:53078800-53079600	Bivalent Enhancer	Colonic Mucosa	Colon
39	chr15:53078800-53079600	Active TSS	HepG2	liver
40	chr15:53078800-53080000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr15:53078800-53080000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:53078800-53080200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr15:53078800-53080200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:53078800-53080400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr15:53079000-53079200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:53079000-53079200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr15:53079000-53079200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
48	chr15:53079000-53079600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:53079000-53081600	Active TSS	Liver	Liver

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