Variant report

Variant	rs9869504
Chromosome Location	chr3:49258480-49258481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11717485	1.00[EUR][1000 genomes]
rs1522929	1.00[EUR][1000 genomes]
rs1568663	1.00[EUR][1000 genomes]
rs17080495	1.00[EUR][1000 genomes]
rs17080510	1.00[EUR][1000 genomes]
rs17080567	1.00[EUR][1000 genomes]
rs1996874	1.00[EUR][1000 genomes]
rs2311794	1.00[EUR][1000 genomes]
rs28615670	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3870340	1.00[EUR][1000 genomes]
rs4452334	1.00[EUR][1000 genomes]
rs4527417	1.00[EUR][1000 genomes]
rs4855872	1.00[EUR][1000 genomes]
rs4855874	1.00[EUR][1000 genomes]
rs4855875	1.00[EUR][1000 genomes]
rs4855876	1.00[EUR][1000 genomes]
rs4855878	1.00[EUR][1000 genomes]
rs4855879	1.00[EUR][1000 genomes]
rs55990645	1.00[EUR][1000 genomes]
rs56101322	1.00[EUR][1000 genomes]
rs56760510	1.00[EUR][1000 genomes]
rs56897974	1.00[EUR][1000 genomes]
rs58998762	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60011446	1.00[EUR][1000 genomes]
rs61008775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61744082	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61749312	1.00[EUR][1000 genomes]
rs6446270	1.00[EUR][1000 genomes]
rs6446271	1.00[EUR][1000 genomes]
rs6446273	1.00[EUR][1000 genomes]
rs6446276	1.00[EUR][1000 genomes]
rs6446278	1.00[EUR][1000 genomes]
rs6446279	1.00[EUR][1000 genomes]
rs6766297	1.00[EUR][1000 genomes]
rs6787665	1.00[EUR][1000 genomes]
rs6793124	1.00[EUR][1000 genomes]
rs72934791	1.00[EUR][1000 genomes]
rs72936804	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936810	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936890	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73830703	1.00[EUR][1000 genomes]
rs73830704	1.00[EUR][1000 genomes]
rs73830705	1.00[EUR][1000 genomes]
rs73830706	1.00[EUR][1000 genomes]
rs73833525	1.00[EUR][1000 genomes]
rs7646393	1.00[EUR][1000 genomes]
rs8179172	1.00[EUR][1000 genomes]
rs9811460	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814413	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9820609	1.00[EUR][1000 genomes]
rs9830627	1.00[EUR][1000 genomes]
rs9833422	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9837396	1.00[EUR][1000 genomes]
rs9849446	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9861805	1.00[EUR][1000 genomes]
rs9875203	1.00[EUR][1000 genomes]
rs9877045	0.85[AFR][1000 genomes];1.00[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	nsv834686	chr3:49106047-49270556	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1008750	chr3:49208815-49362401	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49250200-49274000	Weak transcription	Osteobl	bone
2	chr3:49251600-49265400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:49252000-49265600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:49255800-49259600	Weak transcription	Spleen	Spleen
5	chr3:49255800-49264800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:49255800-49265600	Weak transcription	Aorta	Aorta
7	chr3:49256000-49259000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:49256200-49258800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:49256600-49259000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:49256600-49265400	Weak transcription	Fetal Heart	heart
11	chr3:49256600-49275800	Weak transcription	NHLF	lung
12	chr3:49256800-49259200	Weak transcription	Left Ventricle	heart
13	chr3:49256800-49259400	Weak transcription	NHEK	skin
14	chr3:49256800-49260800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:49256800-49262800	Weak transcription	Ovary	ovary
16	chr3:49256800-49264000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:49256800-49264600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:49256800-49265200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:49256800-49265200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:49256800-49266000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:49257200-49260800	Weak transcription	Right Ventricle	heart
22	chr3:49257400-49258800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:49257400-49262200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:49258000-49258600	ZNF genes & repeats	Fetal Stomach	stomach
25	chr3:49258000-49259600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:49258000-49264200	Weak transcription	Adipose Nuclei	Adipose
27	chr3:49258200-49259200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:49258400-49259200	Enhancers	Esophagus	oesophagus
29	chr3:49258400-49259200	ZNF genes & repeats	Fetal Muscle Leg	muscle

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