Variant report

Variant	rs58908150
Chromosome Location	chr5:124379026-124379027
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10040754	0.98[ASN][1000 genomes]
rs11241784	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11955202	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28649435	0.89[ASN][1000 genomes]
rs4075487	0.89[ASN][1000 genomes]
rs4293913	0.91[ASN][1000 genomes]
rs4451044	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4510579	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4555796	0.95[ASN][1000 genomes]
rs4836144	0.95[ASN][1000 genomes]
rs55888913	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55919034	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58265751	0.86[ASN][1000 genomes]
rs59612060	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62372843	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62372851	0.89[EUR][1000 genomes]
rs6595573	0.91[ASN][1000 genomes]
rs6866873	0.89[ASN][1000 genomes]
rs6872841	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72787446	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7444307	0.86[ASN][1000 genomes]
rs7446011	0.89[ASN][1000 genomes]
rs7700716	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7711673	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9686683	0.93[ASN][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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv4984	chr5:124377028-124401500	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124365400-124379400	Weak transcription	Pancreas	Pancrea
2	chr5:124371600-124379600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:124374400-124379200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:124375000-124379600	Weak transcription	Fetal Thymus	thymus
5	chr5:124376600-124382800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:124377200-124380600	Enhancers	Adipose Nuclei	Adipose
7	chr5:124377200-124380600	Enhancers	Fetal Lung	lung
8	chr5:124377400-124379400	Enhancers	A549	lung
9	chr5:124377400-124380600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr5:124377400-124381000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:124377400-124381200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:124377600-124380000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:124377600-124380000	Enhancers	NH-A	brain
14	chr5:124377600-124380400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:124377600-124380800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:124377600-124381200	Enhancers	Fetal Kidney	kidney
17	chr5:124377600-124381800	Enhancers	NHDF-Ad	bronchial
18	chr5:124377800-124379400	Weak transcription	Right Atrium	heart
19	chr5:124377800-124379800	Enhancers	HSMMtube	muscle
20	chr5:124377800-124380400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:124377800-124381000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:124378000-124379200	Weak transcription	Osteobl	bone
23	chr5:124378000-124380800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:124378000-124385600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:124378200-124379200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:124378200-124379200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:124378200-124379200	Weak transcription	Fetal Brain Male	brain
28	chr5:124378200-124379400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:124378200-124379400	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:124378200-124379400	Weak transcription	Left Ventricle	heart
31	chr5:124378200-124379400	Weak transcription	Psoas Muscle	Psoas
32	chr5:124378200-124379400	Weak transcription	Small Intestine	intestine
33	chr5:124378200-124379400	Weak transcription	Stomach Mucosa	stomach
34	chr5:124378200-124380600	Enhancers	NHLF	lung
35	chr5:124378200-124384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:124378400-124379400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:124378400-124379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:124378400-124379400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:124378400-124379800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:124378400-124382200	Enhancers	HUVEC	blood vessel
41	chr5:124378600-124381600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:124378600-124383000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:124378800-124380000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:124378800-124380200	Enhancers	Colon Smooth Muscle	Colon
45	chr5:124378800-124380200	Enhancers	Rectal Smooth Muscle	rectum
46	chr5:124378800-124380600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:124378800-124381600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:124379000-124379200	Flanking Active TSS	Fetal Heart	heart
49	chr5:124379000-124380200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:124379000-124380600	Enhancers	Liver	Liver

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