Variant report

Variant	rs73149594
Chromosome Location	chr4:55098570-55098571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11932776	1.00[AMR][1000 genomes]
rs35249513	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57735051	1.00[AMR][1000 genomes]
rs58366718	1.00[AMR][1000 genomes]
rs60313972	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60398195	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6838383	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848460	1.00[AMR][1000 genomes]
rs6855053	1.00[AMR][1000 genomes]
rs73149600	0.95[AFR][1000 genomes]
rs73151406	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73151429	1.00[AMR][1000 genomes]
rs73151433	1.00[AMR][1000 genomes]
rs73151435	0.87[AFR][1000 genomes]
rs73151456	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	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002905	chr4:55093677-55115698	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55091200-55099000	Bivalent/Poised TSS	Fetal Kidney	kidney
2	chr4:55092000-55100800	Active TSS	Aorta	Aorta
3	chr4:55092400-55100600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:55093200-55100800	Active TSS	NHDF-Ad	bronchial
5	chr4:55093200-55102000	Active TSS	Ovary	ovary
6	chr4:55094200-55099000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
7	chr4:55094200-55100800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:55094400-55098600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:55094800-55100800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:55095000-55100400	Active TSS	Osteobl	bone
11	chr4:55095000-55100600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:55095000-55100800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr4:55095200-55098800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:55095600-55099400	Bivalent/Poised TSS	Psoas Muscle	Psoas
15	chr4:55095600-55100600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr4:55095800-55098600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
17	chr4:55095800-55098600	Bivalent/Poised TSS	Small Intestine	intestine
18	chr4:55096000-55100000	Bivalent/Poised TSS	Thymus	Thymus
19	chr4:55096000-55100600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr4:55096000-55100800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr4:55096200-55098600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
22	chr4:55096200-55098800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
23	chr4:55096200-55098800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr4:55096200-55098800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr4:55096200-55098800	Flanking Bivalent TSS/Enh	Placenta	Placenta
26	chr4:55096200-55099000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
27	chr4:55096200-55099200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr4:55096200-55099400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr4:55096400-55098800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr4:55096400-55098800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr4:55096600-55098800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
32	chr4:55096600-55098800	Bivalent/Poised TSS	HSMM	muscle
33	chr4:55096600-55099400	Bivalent/Poised TSS	Colonic Mucosa	Colon
34	chr4:55096600-55100600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr4:55096600-55100600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:55096600-55101400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:55096800-55098800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr4:55096800-55098800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:55096800-55098800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr4:55096800-55099200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:55097000-55098600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
42	chr4:55097000-55098600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
43	chr4:55097000-55098800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
44	chr4:55097000-55098800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr4:55097000-55098800	Bivalent Enhancer	HMEC	breast
46	chr4:55097000-55099200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:55097000-55099600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:55097000-55099600	Bivalent Enhancer	Fetal Brain Male	brain
49	chr4:55097200-55098600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
50	chr4:55097200-55098800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum

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