Variant report

Variant	rs58548426
Chromosome Location	chr5:179487691-179487692
allele	C/T
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:13)

rs_ID	r²[population]
rs12520005	1.00[AMR][1000 genomes]
rs12521533	1.00[AMR][1000 genomes]
rs17079813	1.00[AMR][1000 genomes]
rs28578757	1.00[AMR][1000 genomes]
rs34823714	1.00[AMR][1000 genomes]
rs58493575	1.00[AMR][1000 genomes]
rs73335521	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338298	1.00[AMR][1000 genomes]
rs73342216	1.00[AMR][1000 genomes]
rs73344340	1.00[AMR][1000 genomes]
rs73348275	1.00[AMR][1000 genomes]
rs73350175	1.00[AMR][1000 genomes]
rs73810998	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
2	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
5	nsv830561	chr5:179365637-179537012	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
6	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv1024592	chr5:179443133-179510642	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179472400-179496600	Weak transcription	Stomach Mucosa	stomach
2	chr5:179473800-179488000	Weak transcription	Fetal Stomach	stomach
3	chr5:179474000-179496200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:179476000-179497800	Weak transcription	Lung	lung
5	chr5:179476400-179496800	Weak transcription	Right Ventricle	heart
6	chr5:179477400-179494000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:179477400-179495000	Weak transcription	Gastric	stomach
8	chr5:179478000-179496800	Weak transcription	Right Atrium	heart
9	chr5:179478800-179493800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:179479800-179496800	Weak transcription	Psoas Muscle	Psoas
11	chr5:179480400-179488200	Weak transcription	Fetal Brain Male	brain
12	chr5:179480600-179494000	Weak transcription	Fetal Lung	lung
13	chr5:179480600-179496400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:179481200-179496600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:179481600-179494600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:179482000-179490200	Weak transcription	HepG2	liver
17	chr5:179482600-179496600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:179484200-179488200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:179484200-179488200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:179484200-179489800	Weak transcription	NHEK	skin
21	chr5:179484200-179496400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:179484400-179490000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:179484400-179495000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:179484800-179494000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:179485000-179489000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:179485000-179493200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:179485200-179488600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:179485600-179489800	Weak transcription	Fetal Brain Female	brain
29	chr5:179485800-179488600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:179485800-179489000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:179485800-179489000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:179486000-179487800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:179486000-179488600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:179486000-179488800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:179486000-179488800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:179486000-179489200	Enhancers	Brain Cingulate Gyrus	brain
37	chr5:179486000-179489800	Enhancers	Brain Substantia Nigra	brain
38	chr5:179486200-179488200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:179486200-179488400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr5:179486200-179488400	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:179486200-179489000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:179486400-179488400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr5:179486400-179489200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr5:179486600-179488600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:179486600-179488800	Enhancers	Brain Hippocampus Middle	brain
46	chr5:179486600-179494000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr5:179486800-179487800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:179486800-179488200	Weak transcription	NH-A	brain
49	chr5:179486800-179488600	Enhancers	Brain Anterior Caudate	brain
50	chr5:179486800-179488800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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