Variant report

Variant	rs58828813
Chromosome Location	chr5:179060885-179060886
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs4700813	0.91[ASN][1000 genomes]
rs4700817	0.95[ASN][1000 genomes]
rs4701135	0.91[ASN][1000 genomes]
rs4701144	0.95[ASN][1000 genomes]
rs72822602	0.82[ASN][1000 genomes]
rs72824510	0.82[ASN][1000 genomes]
rs72824515	0.87[ASN][1000 genomes]
rs72824520	0.91[ASN][1000 genomes]
rs72824522	0.91[ASN][1000 genomes]
rs72824523	0.91[ASN][1000 genomes]
rs72824524	0.91[ASN][1000 genomes]
rs72824528	0.91[ASN][1000 genomes]
rs72824529	0.91[ASN][1000 genomes]
rs72824532	0.87[ASN][1000 genomes]
rs72824534	0.91[ASN][1000 genomes]
rs72824544	0.95[ASN][1000 genomes]
rs72824556	0.93[ASN][1000 genomes]
rs73809617	0.91[ASN][1000 genomes]
rs73809621	0.85[ASN][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	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
4	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv883273	chr5:179045142-179086833	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
6	nsv1033352	chr5:179056475-179086482	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1021275	chr5:179056475-179104588	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179052000-179061400	Weak transcription	Spleen	Spleen
2	chr5:179052200-179085400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:179052400-179061000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:179054600-179061000	Weak transcription	A549	lung
5	chr5:179059400-179062000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:179059800-179061600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:179060200-179061200	Active TSS	Rectal Smooth Muscle	rectum
8	chr5:179060200-179061200	Enhancers	Stomach Mucosa	stomach
9	chr5:179060400-179061000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:179060400-179061200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:179060400-179061200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:179060600-179061000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:179060600-179061000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:179060600-179061000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:179060600-179061000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:179060600-179061000	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr5:179060600-179061000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr5:179060600-179061000	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr5:179060600-179061000	Flanking Active TSS	Placenta	Placenta
20	chr5:179060600-179061000	Flanking Active TSS	Fetal Thymus	thymus
21	chr5:179060600-179061000	Enhancers	Psoas Muscle	Psoas
22	chr5:179060600-179061000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr5:179060600-179061000	Flanking Active TSS	Dnd41	blood
24	chr5:179060600-179061000	Active TSS	GM12878-XiMat	blood
25	chr5:179060600-179061200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr5:179060600-179061200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:179060600-179061200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:179060600-179061200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:179060600-179061200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr5:179060600-179061200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr5:179060600-179061200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:179060600-179061200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:179060600-179061200	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr5:179060600-179061200	Enhancers	Liver	Liver
35	chr5:179060600-179061200	Active TSS	Brain Angular Gyrus	brain
36	chr5:179060600-179061200	Active TSS	Brain Anterior Caudate	brain
37	chr5:179060600-179061200	Enhancers	Brain Hippocampus Middle	brain
38	chr5:179060600-179061200	Active TSS	Colon Smooth Muscle	Colon
39	chr5:179060600-179061200	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr5:179060600-179061200	Enhancers	Esophagus	oesophagus
41	chr5:179060600-179061200	Active TSS	Fetal Kidney	kidney
42	chr5:179060600-179061200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr5:179060600-179061200	Active TSS	Hela-S3	cervix
44	chr5:179060600-179061200	Active TSS	HUVEC	blood vessel
45	chr5:179060600-179061200	Active TSS	K562	blood
46	chr5:179060600-179061200	Active TSS	NHEK	skin
47	chr5:179060600-179061800	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr5:179060600-179061800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:179060600-179061800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr5:179060600-179061800	Active TSS	Skeletal Muscle Female	skeletal muscle

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