Variant report

Variant	rs73758818
Chromosome Location	chr5:58894557-58894558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16890226	1.00[AMR][1000 genomes]
rs16890228	1.00[AMR][1000 genomes]
rs73099683	1.00[AMR][1000 genomes]
rs73099687	1.00[AMR][1000 genomes]
rs73758819	1.00[AFR][1000 genomes]
rs73758821	1.00[AMR][1000 genomes]
rs73758823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73758824	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73758825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73758826	1.00[AMR][1000 genomes]
rs73758827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73758828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7710565	1.00[AMR][1000 genomes]
rs7715496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7726755	0.89[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	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv598256	chr5:58893286-58939840	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58884200-58902800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:58892200-58894800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:58892800-58894800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:58892800-58894800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:58893000-58894600	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr5:58893400-58894600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:58893600-58894600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr5:58893600-58894600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:58893600-58894600	Enhancers	Brain Germinal Matrix	brain
10	chr5:58893600-58895000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr5:58893800-58894600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:58893800-58894600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:58893800-58895200	Enhancers	Primary hematopoietic stem cells	blood
14	chr5:58894000-58894600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:58894000-58894600	Active TSS	Brain Hippocampus Middle	brain
16	chr5:58894000-58894800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:58894000-58894800	Active TSS	Right Atrium	heart
18	chr5:58894000-58895000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:58894200-58894600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr5:58894200-58894600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:58894200-58894600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:58894200-58894600	Enhancers	Primary B cells from cord blood	blood
23	chr5:58894200-58894600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:58894200-58894600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr5:58894200-58894600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:58894200-58894600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:58894200-58894600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:58894200-58894600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:58894200-58894600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:58894200-58894600	Active TSS	Aorta	Aorta
31	chr5:58894200-58894600	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr5:58894200-58894600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr5:58894200-58894600	Active TSS	Fetal Kidney	kidney
34	chr5:58894200-58894600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr5:58894200-58894600	Flanking Active TSS	Stomach Mucosa	stomach
36	chr5:58894200-58894600	Active TSS	A549	lung
37	chr5:58894200-58894600	Flanking Active TSS	GM12878-XiMat	blood
38	chr5:58894200-58894600	Flanking Active TSS	Hela-S3	cervix
39	chr5:58894200-58894600	Active TSS	NHDF-Ad	bronchial
40	chr5:58894200-58894600	Flanking Active TSS	NHEK	skin
41	chr5:58894200-58894600	Flanking Active TSS	Osteobl	bone
42	chr5:58894200-58894800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr5:58894200-58894800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr5:58894200-58894800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr5:58894200-58894800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:58894200-58894800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:58894200-58894800	Flanking Active TSS	Liver	Liver
48	chr5:58894200-58894800	Active TSS	Brain Angular Gyrus	brain
49	chr5:58894200-58894800	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr5:58894200-58894800	Active TSS	Ovary	ovary

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