Variant report

Variant	rs62366031
Chromosome Location	chr5:95571005-95571006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10054303	0.82[ASN][1000 genomes]
rs10062171	0.95[ASN][1000 genomes]
rs10064683	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10213951	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12518407	0.96[ASN][1000 genomes]
rs28788264	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4077816	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4264961	0.83[EUR][1000 genomes]
rs4367317	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4379224	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4464721	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4635954	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4635955	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869275	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55745974	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56311820	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62366027	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6556912	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6881060	0.82[EUR][1000 genomes]
rs6885381	0.83[EUR][1000 genomes]
rs6888535	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6895341	0.83[EUR][1000 genomes]
rs6899076	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72787618	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7447610	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7708068	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95564400-95572000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:95565200-95578400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:95566000-95579200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:95569800-95572800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:95570000-95571800	Enhancers	Fetal Lung	lung
6	chr5:95570000-95572200	Enhancers	Left Ventricle	heart
7	chr5:95570000-95578400	Weak transcription	HepG2	liver
8	chr5:95570200-95571600	Enhancers	Aorta	Aorta
9	chr5:95570200-95571800	Enhancers	Colon Smooth Muscle	Colon
10	chr5:95570200-95572000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:95570400-95571200	Enhancers	Fetal Kidney	kidney
12	chr5:95570400-95572400	Enhancers	Rectal Smooth Muscle	rectum
13	chr5:95570600-95571600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:95570600-95571600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr5:95570600-95571600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:95570600-95572200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:95570600-95572200	Enhancers	NHDF-Ad	bronchial
18	chr5:95570600-95572800	Enhancers	Osteobl	bone
19	chr5:95570800-95571200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:95570800-95571200	Enhancers	Brain Anterior Caudate	brain
21	chr5:95570800-95571200	Flanking Active TSS	HSMM	muscle
22	chr5:95570800-95571200	Flanking Active TSS	NHLF	lung
23	chr5:95570800-95571400	Enhancers	Brain Cingulate Gyrus	brain
24	chr5:95570800-95571400	Flanking Active TSS	HSMMtube	muscle
25	chr5:95570800-95571600	Enhancers	Fetal Stomach	stomach
26	chr5:95570800-95572000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:95570800-95572200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:95570800-95572200	Enhancers	Psoas Muscle	Psoas
29	chr5:95570800-95572800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:95571000-95571200	Enhancers	Brain Angular Gyrus	brain
31	chr5:95571000-95571200	Enhancers	Fetal Heart	heart
32	chr5:95571000-95571200	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr5:95571000-95571400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr5:95571000-95571600	Enhancers	NH-A	brain
35	chr5:95571000-95572000	Enhancers	Adipose Nuclei	Adipose
36	chr5:95571000-95572000	Weak transcription	Right Atrium	heart
37	chr5:95571000-95572400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:95571000-95573000	Enhancers	Placenta	Placenta
39	chr5:95571000-95579600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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