Variant report

Variant	rs7727180
Chromosome Location	chr5:15021971-15021972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10043444	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10866509	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13357328	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16903773	0.81[EUR][1000 genomes]
rs2592000	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2652757	0.82[EUR][1000 genomes]
rs2652758	0.81[EUR][1000 genomes]
rs30549	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5010555	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5010556	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59356093	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62356082	0.84[AMR][1000 genomes]
rs6554868	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862081	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6867275	0.81[EUR][1000 genomes]
rs6881461	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7341022	0.86[EUR][1000 genomes]
rs7708423	0.80[AMR][1000 genomes]
rs7715918	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7716510	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7727670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9686327	0.86[EUR][1000 genomes]
rs9687138	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9687144	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9687159	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9687484	0.84[AMR][1000 genomes]
rs9688320	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9688328	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15019600-15024400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:15020400-15022200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:15020400-15024400	Enhancers	Placenta	Placenta
4	chr5:15020800-15022600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr5:15021000-15022000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:15021000-15022200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:15021000-15022200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:15021000-15022200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:15021000-15022200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:15021000-15022200	Enhancers	Fetal Muscle Leg	muscle
11	chr5:15021000-15022200	Enhancers	NH-A	brain
12	chr5:15021000-15022600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:15021200-15022000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr5:15021200-15022000	Enhancers	HMEC	breast
15	chr5:15021200-15022200	Enhancers	Right Ventricle	heart
16	chr5:15021200-15022200	Enhancers	Hela-S3	cervix
17	chr5:15021200-15022200	Enhancers	NHDF-Ad	bronchial
18	chr5:15021200-15022200	Flanking Active TSS	Osteobl	bone
19	chr5:15021400-15022000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:15021400-15022200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:15021400-15022200	Enhancers	Fetal Lung	lung
22	chr5:15021400-15022200	Enhancers	Fetal Stomach	stomach
23	chr5:15021400-15022200	Enhancers	Left Ventricle	heart
24	chr5:15021600-15022000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:15021600-15022000	Active TSS	Muscle Satellite Cultured Cells	--
26	chr5:15021600-15022000	Flanking Active TSS	Aorta	Aorta
27	chr5:15021600-15022000	Active TSS	Brain Hippocampus Middle	brain
28	chr5:15021600-15022200	Enhancers	Spleen	Spleen
29	chr5:15021600-15029000	Weak transcription	Stomach Mucosa	stomach
30	chr5:15021800-15022000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:15021800-15022000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr5:15021800-15022200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:15021800-15022200	Flanking Active TSS	Fetal Heart	heart
34	chr5:15021800-15022200	Enhancers	Right Atrium	heart
35	chr5:15021800-15022200	Flanking Active TSS	HSMMtube	muscle
36	chr5:15021800-15022400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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