Variant report

Variant	rs17083607
Chromosome Location	chr4:54721640-54721641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1466829	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466832	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466833	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083585	0.87[ASN][1000 genomes]
rs17083601	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17083603	0.87[ASN][1000 genomes]
rs17083606	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28414550	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28537559	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4382094	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4632721	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58241271	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816667	0.87[ASN][1000 genomes]
rs6852777	0.87[ASN][1000 genomes]
rs73143864	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817125	0.86[EUR][1000 genomes];0.87[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	nsv1014792	chr4:54655382-54768963	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537095	chr4:54655382-54768963	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv879017	chr4:54656948-54784205	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54711000-54725400	Weak transcription	Psoas Muscle	Psoas
2	chr4:54716800-54727800	Weak transcription	Fetal Heart	heart
3	chr4:54719000-54722400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:54720400-54722200	Enhancers	Fetal Lung	lung
5	chr4:54720400-54722400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:54720400-54723000	Enhancers	Fetal Kidney	kidney
7	chr4:54720600-54722400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr4:54720600-54723000	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:54720600-54723200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:54720600-54723200	Enhancers	Fetal Stomach	stomach
11	chr4:54720600-54723400	Enhancers	Osteobl	bone
12	chr4:54720600-54723600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:54720800-54722800	Enhancers	Primary B cells from cord blood	blood
14	chr4:54720800-54723200	Enhancers	NHLF	lung
15	chr4:54720800-54723600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:54721000-54721800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:54721000-54723200	Enhancers	NH-A	brain
18	chr4:54721200-54722400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:54721200-54722600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:54721200-54722800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:54721400-54722600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:54721400-54722600	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:54721600-54722000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:54721600-54722200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:54721600-54722400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:54721600-54722600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:54721600-54722600	Flanking Active TSS	NHDF-Ad	bronchial
28	chr4:54721600-54723000	Enhancers	HMEC	breast

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