Variant report

Variant	rs28590650
Chromosome Location	chr5:15019787-15019788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10056944	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10071898	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10073445	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10513195	0.93[AFR][1000 genomes]
rs28391247	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv432717	chr5:14887400-15126500	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1017579	chr5:14888997-15194335	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv461982	chr5:14943456-15044842	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv597262	chr5:14943456-15044842	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv470991	chr5:14949696-15022112	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15009400-15020800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:15009800-15021000	Weak transcription	Aorta	Aorta
3	chr5:15015200-15020400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:15015200-15021200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:15015600-15020800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:15015600-15021000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:15015600-15021000	Weak transcription	NH-A	brain
8	chr5:15016200-15020200	Weak transcription	Fetal Heart	heart
9	chr5:15016400-15020800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:15016400-15021000	Weak transcription	HSMMtube	muscle
11	chr5:15016600-15020200	Weak transcription	Osteobl	bone
12	chr5:15016800-15021200	Weak transcription	Right Atrium	heart
13	chr5:15019000-15020800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:15019000-15021000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:15019000-15021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:15019200-15021400	Weak transcription	A549	lung
17	chr5:15019600-15024400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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