Variant report

Variant	rs4082117
Chromosome Location	chr3:139477974-139477975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11917185	0.84[EUR][1000 genomes]
rs1374827	0.81[EUR][1000 genomes]
rs4234474	0.84[EUR][1000 genomes]
rs4234475	0.84[EUR][1000 genomes]
rs4261836	0.86[EUR][1000 genomes]
rs4267617	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4389441	0.84[EUR][1000 genomes]
rs4683671	0.84[EUR][1000 genomes]
rs4683682	0.84[EUR][1000 genomes]
rs4683687	0.93[EUR][1000 genomes]
rs5024967	0.84[EUR][1000 genomes]
rs6774120	0.88[EUR][1000 genomes]
rs6788842	0.84[EUR][1000 genomes]
rs6793000	0.84[EUR][1000 genomes]
rs6794429	0.93[EUR][1000 genomes]
rs6800545	0.84[EUR][1000 genomes]
rs6805798	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9838576	0.83[EUR][1000 genomes]
rs9843472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9863263	0.83[EUR][1000 genomes]
rs9869310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9876670	0.83[EUR][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	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv916193	chr3:139187767-139821526	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv530058	chr3:139243971-139814419	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139475600-139479000	Enhancers	Fetal Heart	heart
2	chr3:139476600-139478800	Enhancers	HSMMtube	muscle
3	chr3:139476800-139478800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:139477000-139478600	Enhancers	HSMM	muscle
5	chr3:139477400-139478400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:139477400-139478400	Enhancers	Fetal Muscle Leg	muscle
7	chr3:139477400-139478400	Enhancers	Right Atrium	heart
8	chr3:139477400-139478400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr3:139477600-139478200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:139477600-139478200	Enhancers	Right Ventricle	heart
11	chr3:139477600-139478400	Enhancers	Left Ventricle	heart
12	chr3:139477600-139478400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:139477600-139478400	Enhancers	NHLF	lung
14	chr3:139477600-139478600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:139477600-139478600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:139477600-139478800	Enhancers	NH-A	brain
17	chr3:139477600-139479600	Enhancers	Liver	Liver
18	chr3:139477600-139480000	Enhancers	Adipose Nuclei	Adipose
19	chr3:139477800-139478400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:139477800-139478400	Enhancers	Placenta	Placenta
21	chr3:139477800-139478400	Enhancers	Psoas Muscle	Psoas
22	chr3:139477800-139478400	Enhancers	NHDF-Ad	bronchial
23	chr3:139477800-139479200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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