Variant report

Variant	rs66523245
Chromosome Location	chr5:119781866-119781867
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1432462	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1503929	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17146628	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17146632	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17146635	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17146644	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17424128	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17489517	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17489671	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17489720	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56398366	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57401201	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58699148	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58831848	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60249515	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61113370	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72784202	0.81[EUR][1000 genomes]
rs72786224	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72786229	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7734475	0.83[AMR][1000 genomes];0.89[EUR][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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1018100	chr5:119749898-119802014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119777400-119784000	Enhancers	Fetal Heart	heart
2	chr5:119777800-119785200	Weak transcription	Psoas Muscle	Psoas
3	chr5:119779600-119783600	Weak transcription	Aorta	Aorta
4	chr5:119780400-119782000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:119780400-119786400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:119780800-119782000	Enhancers	NHDF-Ad	bronchial
7	chr5:119780800-119784200	Enhancers	HUVEC	blood vessel
8	chr5:119780800-119786200	Enhancers	HSMM	muscle
9	chr5:119781000-119782000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:119781000-119782000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:119781000-119783800	Enhancers	NHLF	lung
12	chr5:119781000-119784000	Enhancers	NH-A	brain
13	chr5:119781000-119784000	Enhancers	Osteobl	bone
14	chr5:119781000-119784200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:119781000-119786200	Enhancers	HSMMtube	muscle
16	chr5:119781200-119782400	Enhancers	HMEC	breast
17	chr5:119781200-119782800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:119781200-119783000	Enhancers	Fetal Lung	lung
19	chr5:119781400-119782000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:119781400-119782400	Enhancers	Fetal Stomach	stomach
21	chr5:119781400-119783000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:119781400-119783600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:119781400-119785000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:119781600-119783000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:119781600-119783200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:119781800-119782200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr5:119781800-119782200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:119781800-119782200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:119781800-119782200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:119781800-119782200	Enhancers	Hela-S3	cervix
31	chr5:119781800-119783000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr5:119781800-119783600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:119781800-119783800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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