Variant report

Variant	rs13125758
Chromosome Location	chr4:87580838-87580839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13135528	0.86[AMR][1000 genomes]
rs13148012	1.00[AFR][1000 genomes]
rs13150561	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34457443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35306557	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs71605604	1.00[AFR][1000 genomes]
rs71605609	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71605610	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71605611	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9994421	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv2757071	chr4:87417291-87689533	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv2759264	chr4:87417291-87689533	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv879522	chr4:87473776-87644842	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv822635	chr4:87479576-87622176	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv879523	chr4:87517609-87594472	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv879524	chr4:87517609-87603929	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv2755470	chr4:87536515-87613212	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87571600-87596000	Weak transcription	Pancreas	Pancrea
2	chr4:87574600-87583600	Weak transcription	Ovary	ovary
3	chr4:87574600-87594000	Weak transcription	Fetal Kidney	kidney
4	chr4:87574600-87604400	Weak transcription	Brain Substantia Nigra	brain
5	chr4:87574600-87644400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:87574800-87582000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:87575600-87582600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:87575800-87581600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:87576000-87582200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:87576200-87593400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:87576400-87581200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:87576400-87586000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:87576600-87582200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:87576800-87582400	Weak transcription	A549	lung
15	chr4:87576800-87587800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:87578800-87585800	Weak transcription	Osteobl	bone
17	chr4:87579000-87585800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:87579200-87584400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:87579200-87642600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:87579400-87581400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:87579400-87581600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:87579400-87584200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:87579400-87587800	Weak transcription	Esophagus	oesophagus
24	chr4:87579400-87591000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:87579400-87593400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:87579400-87594000	Weak transcription	Fetal Stomach	stomach
27	chr4:87579400-87604000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:87579400-87644400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:87579600-87581200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:87579600-87581800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:87579600-87584000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:87579600-87584600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:87579600-87585800	Weak transcription	HMEC	breast
34	chr4:87579600-87593000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:87579600-87594000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:87579600-87611800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:87579800-87587800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:87580600-87582800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:87580800-87581200	Enhancers	NHEK	skin
40	chr4:87580800-87583400	Enhancers	Fetal Lung	lung

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