Variant report

Variant	rs73778991
Chromosome Location	chr5:112566257-112566258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13356301	0.82[AMR][1000 genomes]
rs13356847	0.82[AMR][1000 genomes]
rs1562018	0.82[AMR][1000 genomes]
rs28606657	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28637239	0.82[AMR][1000 genomes]
rs510922	0.81[AMR][1000 genomes]
rs57867880	0.82[AMR][1000 genomes]
rs73779002	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
2	chr5:112555000-112566800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:112557200-112585800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:112557600-112566400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:112557600-112566400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:112557800-112566400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:112557800-112566400	Weak transcription	HMEC	breast
8	chr5:112557800-112566600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:112558800-112568000	Weak transcription	Psoas Muscle	Psoas
10	chr5:112559000-112568000	Weak transcription	Aorta	Aorta
11	chr5:112559000-112570000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:112559000-112571200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:112559600-112566400	Weak transcription	Adipose Nuclei	Adipose
14	chr5:112560200-112568000	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:112560600-112566400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:112560800-112568400	Weak transcription	Fetal Stomach	stomach
17	chr5:112560800-112569000	Weak transcription	Osteobl	bone
18	chr5:112561000-112566800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:112561200-112570400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:112561400-112568800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:112561600-112575000	Weak transcription	Right Ventricle	heart
22	chr5:112561800-112568000	Weak transcription	Left Ventricle	heart
23	chr5:112562000-112566400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:112562000-112568000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:112562200-112566400	Weak transcription	NH-A	brain
26	chr5:112562200-112566800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:112562200-112570400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:112562400-112566800	Weak transcription	NHDF-Ad	bronchial
29	chr5:112564400-112566400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:112564800-112566600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:112564800-112567400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:112565000-112568000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:112565200-112566600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:112565400-112568000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:112565400-112572000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:112565600-112566400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:112565600-112566400	Enhancers	Fetal Heart	heart
38	chr5:112565600-112566400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr5:112565600-112567200	Weak transcription	Ovary	ovary
40	chr5:112565600-112567200	Weak transcription	Right Atrium	heart
41	chr5:112565600-112567800	Weak transcription	Fetal Brain Female	brain
42	chr5:112566000-112568000	Weak transcription	Small Intestine	intestine
43	chr5:112566000-112568400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:112566200-112566600	Enhancers	NHEK	skin
45	chr5:112566200-112567000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr5:112566200-112568200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr5:112566200-112572400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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