Variant report

Variant	rs58622488
Chromosome Location	chr5:126745316-126745317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2108889	1.00[AMR][1000 genomes]
rs55857193	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56408687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57304460	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59168209	1.00[AMR][1000 genomes]
rs60007347	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60963225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61170684	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6595772	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6868588	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6885300	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6889554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783767	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783791	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783792	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783793	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783796	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783799	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783801	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783802	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73786110	1.00[AMR][1000 genomes]
rs7702677	1.00[AMR][1000 genomes]
rs7703677	0.86[AFR][1000 genomes];1.00[AMR][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv526333	chr5:126732427-126746277	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126734800-126753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:126737600-126746400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:126738800-126746200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:126742200-126745800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:126742400-126746000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:126742400-126746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:126742600-126745800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:126742600-126745800	Weak transcription	Brain Anterior Caudate	brain
10	chr5:126742800-126745600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:126742800-126746000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:126742800-126746800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:126742800-126754000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:126742800-126760200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:126742800-126762600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:126742800-126782000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:126742800-126792400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:126743000-126755600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:126743000-126784800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:126743200-126746000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:126743400-126760000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:126744000-126746200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:126744400-126746800	Genic enhancers	Fetal Muscle Leg	muscle
24	chr5:126744600-126745400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:126744600-126746200	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:126744800-126745400	Enhancers	Liver	Liver
27	chr5:126744800-126746000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:126744800-126746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:126745000-126745400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr5:126745000-126745400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:126745000-126745400	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr5:126745000-126745400	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr5:126745000-126745400	Enhancers	GM12878-XiMat	blood
34	chr5:126745000-126745400	Flanking Active TSS	Osteobl	bone
35	chr5:126745000-126745600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:126745000-126745800	Enhancers	Brain Hippocampus Middle	brain
37	chr5:126745000-126746000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:126745000-126746000	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr5:126745000-126746000	Active TSS	NHDF-Ad	bronchial
40	chr5:126745000-126746200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:126745000-126746200	Enhancers	Right Atrium	heart
42	chr5:126745000-126746200	Genic enhancers	HSMMtube	muscle
43	chr5:126745000-126746400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:126745000-126746400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:126745000-126746400	Enhancers	Fetal Lung	lung
46	chr5:126745000-126746400	Enhancers	Ovary	ovary
47	chr5:126745200-126745600	Flanking Active TSS	HSMM	muscle
48	chr5:126745200-126745800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:126745200-126745800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr5:126745200-126745800	Active TSS	Skeletal Muscle Female	skeletal muscle

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