Variant report

Variant	rs73099748
Chromosome Location	chr5:42690731-42690732
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11739840	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28919882	0.91[EUR][1000 genomes]
rs28943889	0.91[EUR][1000 genomes]
rs4318793	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55851367	0.95[EUR][1000 genomes]
rs6451628	0.80[EUR][1000 genomes]
rs6882958	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73087443	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73087466	0.80[EUR][1000 genomes]
rs73087468	0.80[EUR][1000 genomes]
rs73095800	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73097909	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73097920	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73099761	0.95[EUR][1000 genomes]
rs73751234	0.98[EUR][1000 genomes]
rs7713512	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7727694	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7728727	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7731163	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1019648	chr5:42616487-42696943	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv537736	chr5:42616487-42696943	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42677000-42691600	Weak transcription	Aorta	Aorta
2	chr5:42679800-42691600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:42683200-42691200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:42685000-42691800	Weak transcription	Right Ventricle	heart
5	chr5:42685400-42691200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:42687000-42691400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:42687400-42691800	Weak transcription	Gastric	stomach
8	chr5:42687800-42700600	Weak transcription	Fetal Intestine Large	intestine
9	chr5:42688000-42691600	Weak transcription	Ovary	ovary
10	chr5:42688000-42692200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:42688000-42699800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:42688200-42691200	Weak transcription	Fetal Stomach	stomach
13	chr5:42688400-42722200	Weak transcription	Pancreas	Pancrea
14	chr5:42688600-42699000	Weak transcription	Esophagus	oesophagus
15	chr5:42689400-42691800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:42689600-42692600	Enhancers	Fetal Heart	heart
17	chr5:42689600-42693400	Weak transcription	Spleen	Spleen
18	chr5:42689800-42691800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:42689800-42691800	Weak transcription	Lung	lung
20	chr5:42689800-42703000	Strong transcription	Liver	Liver
21	chr5:42689800-42703400	Strong transcription	Adipose Nuclei	Adipose
22	chr5:42690000-42693800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:42690400-42691600	Weak transcription	Psoas Muscle	Psoas
24	chr5:42690400-42691800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:42690400-42691800	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:42690400-42691800	Weak transcription	Placenta	Placenta
27	chr5:42690400-42691800	Weak transcription	Left Ventricle	heart
28	chr5:42690400-42691800	Weak transcription	Right Atrium	heart
29	chr5:42690400-42700000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr5:42690400-42701200	Weak transcription	Fetal Lung	lung
31	chr5:42690600-42691200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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