Variant report

Variant	rs73244753
Chromosome Location	chr5:112556404-112556405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13355627	1.00[EUR][1000 genomes]
rs17135465	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34893422	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58404821	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59823901	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59935751	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
2	chr5:112549600-112559600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:112550000-112556800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:112550200-112559600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:112550600-112558400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:112551000-112556800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:112551400-112556600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:112551600-112559800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:112551800-112557000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:112551800-112557000	Weak transcription	NHDF-Ad	bronchial
11	chr5:112552000-112556800	Weak transcription	NH-A	brain
12	chr5:112552000-112557000	Weak transcription	HMEC	breast
13	chr5:112552800-112556800	Weak transcription	NHEK	skin
14	chr5:112552800-112557000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:112553000-112560200	Weak transcription	Brain Substantia Nigra	brain
16	chr5:112553600-112560600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:112553800-112556800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:112553800-112556800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:112553800-112558600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:112554200-112556600	Weak transcription	Left Ventricle	heart
21	chr5:112554200-112556800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:112554200-112556800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:112554200-112558400	Weak transcription	Psoas Muscle	Psoas
24	chr5:112554200-112559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:112554200-112559600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:112554200-112561600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:112554200-112564200	Weak transcription	Small Intestine	intestine
28	chr5:112554400-112556600	Weak transcription	Right Ventricle	heart
29	chr5:112554400-112558600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:112554800-112557400	Enhancers	Fetal Heart	heart
31	chr5:112555000-112556600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:112555000-112556600	Weak transcription	Ovary	ovary
33	chr5:112555000-112558400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr5:112555000-112558400	Weak transcription	Right Atrium	heart
35	chr5:112555000-112566800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:112555200-112557000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:112555200-112557200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:112555200-112559400	Weak transcription	Fetal Lung	lung
39	chr5:112555200-112559600	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:112555600-112556600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr5:112555600-112556800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:112555600-112556800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:112555600-112556800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:112555600-112557000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:112555600-112557000	Weak transcription	Adipose Nuclei	Adipose
46	chr5:112555600-112559600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:112555600-112560200	Weak transcription	Liver	Liver
48	chr5:112555600-112560200	Weak transcription	Fetal Stomach	stomach
49	chr5:112556200-112556800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:112556200-112557200	Enhancers	HUES48 Cell Line	embryonic stem cell

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