Variant report

Variant	rs17083606
Chromosome Location	chr4:54719301-54719302
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	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1466832	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1466833	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17083585	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17083601	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083603	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083607	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28414550	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28537559	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4382094	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4632721	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58241271	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6816667	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6852777	1.00[ASN][1000 genomes]
rs73143864	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73817125	1.00[EUR][1000 genomes];1.00[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54711000-54725400	Weak transcription	Psoas Muscle	Psoas
2	chr4:54716200-54719400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:54716800-54720400	Weak transcription	Fetal Kidney	kidney
4	chr4:54716800-54727800	Weak transcription	Fetal Heart	heart
5	chr4:54717800-54719400	Enhancers	NHDF-Ad	bronchial
6	chr4:54717800-54719400	Enhancers	Osteobl	bone
7	chr4:54717800-54719600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:54718000-54719400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:54718000-54719400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:54718400-54720800	Weak transcription	NHLF	lung
11	chr4:54718600-54719400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:54718600-54719400	Bivalent Enhancer	Left Ventricle	heart
13	chr4:54718800-54719400	Active TSS	Fetal Brain Male	brain
14	chr4:54719000-54719400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:54719000-54719400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:54719000-54720400	Weak transcription	Fetal Lung	lung
17	chr4:54719000-54720600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:54719000-54720600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:54719000-54720600	Weak transcription	Fetal Stomach	stomach
20	chr4:54719000-54720800	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:54719000-54721000	Weak transcription	NH-A	brain
22	chr4:54719000-54722400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:54719200-54719400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr4:54719200-54720200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:54719200-54720800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:54719200-54721200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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