Variant report

Variant	rs58091496
Chromosome Location	chr5:16720714-16720715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs256934	1.00[AMR][1000 genomes]
rs256936	1.00[AMR][1000 genomes]
rs27369	1.00[AMR][1000 genomes]
rs3188408	1.00[AMR][1000 genomes]
rs55736249	1.00[EUR][1000 genomes]
rs56331036	1.00[AMR][1000 genomes]
rs57469405	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58336311	1.00[AMR][1000 genomes]
rs58840252	1.00[AMR][1000 genomes]
rs61252560	1.00[AMR][1000 genomes]
rs61649363	1.00[AMR][1000 genomes]
rs6864209	1.00[EUR][1000 genomes]
rs73051043	1.00[AMR][1000 genomes]
rs73051047	1.00[AMR][1000 genomes]
rs73051049	1.00[AMR][1000 genomes]
rs73755163	1.00[EUR][1000 genomes]
rs73755168	1.00[EUR][1000 genomes]
rs73755172	1.00[EUR][1000 genomes]
rs73755194	1.00[EUR][1000 genomes]
rs747057	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:16710400-16723600	Weak transcription	Esophagus	oesophagus
3	chr5:16711200-16723800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:16711200-16736400	Weak transcription	Hela-S3	cervix
5	chr5:16711400-16721000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:16711400-16721200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:16711400-16721600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:16711400-16724000	Weak transcription	Ovary	ovary
9	chr5:16711400-16727800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:16711400-16728200	Weak transcription	Spleen	Spleen
11	chr5:16711400-16730200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:16711400-16731800	Weak transcription	HMEC	breast
13	chr5:16711600-16721600	Weak transcription	NHEK	skin
14	chr5:16711600-16721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:16711600-16736000	Weak transcription	Placenta	Placenta
16	chr5:16713600-16721600	Weak transcription	Stomach Mucosa	stomach
17	chr5:16713800-16731600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:16713800-16735600	Weak transcription	Colonic Mucosa	Colon
19	chr5:16714000-16721400	Weak transcription	HSMMtube	muscle
20	chr5:16714000-16721600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:16714000-16724000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:16714000-16726200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:16714000-16726200	Weak transcription	Left Ventricle	heart
24	chr5:16714000-16730200	Weak transcription	Osteobl	bone
25	chr5:16714200-16721400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:16714200-16721600	Weak transcription	Fetal Lung	lung
27	chr5:16714200-16721600	Weak transcription	A549	lung
28	chr5:16714200-16721600	Weak transcription	HSMM	muscle
29	chr5:16714200-16726200	Weak transcription	Fetal Kidney	kidney
30	chr5:16714200-16730400	Weak transcription	NHLF	lung
31	chr5:16714200-16736000	Weak transcription	NHDF-Ad	bronchial
32	chr5:16714400-16721200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:16714400-16730000	Weak transcription	NH-A	brain
34	chr5:16714600-16721600	Weak transcription	Brain Angular Gyrus	brain
35	chr5:16714600-16722000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:16714600-16726400	Weak transcription	Brain Substantia Nigra	brain
37	chr5:16714600-16728200	Weak transcription	Psoas Muscle	Psoas
38	chr5:16714800-16721600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:16714800-16721600	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:16714800-16721800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:16715000-16721200	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:16715000-16725400	Weak transcription	HUVEC	blood vessel
43	chr5:16717600-16721800	Weak transcription	Brain Germinal Matrix	brain
44	chr5:16717800-16721600	Weak transcription	Fetal Brain Female	brain
45	chr5:16717800-16721800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr5:16718000-16720800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr5:16718000-16721000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr5:16718000-16722000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:16718400-16721600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:16718400-16721600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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