Variant report

Variant	rs1402576
Chromosome Location	chr4:54773598-54773599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10517319	0.89[LWK][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs13126031	0.85[AFR][1000 genomes]
rs13131842	0.85[AFR][1000 genomes]
rs13142087	0.83[MKK][hapmap];0.85[AFR][1000 genomes]
rs1402575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2102012	0.93[LWK][hapmap]
rs6815566	1.00[AMR][1000 genomes]
rs6842097	1.00[AMR][1000 genomes]
rs7662604	0.85[AFR][1000 genomes]
rs7662989	0.83[AFR][1000 genomes]
rs7688674	0.85[AFR][1000 genomes]
rs7693791	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1014456	chr4:54759975-54807987	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1014406	chr4:54773519-54813321	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54771000-54775800	Enhancers	Fetal Heart	heart
2	chr4:54771000-54776000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:54771800-54773600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:54772200-54775600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:54772400-54774600	Weak transcription	Pancreas	Pancrea
6	chr4:54772400-54774600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:54772600-54773600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr4:54772600-54773800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:54772600-54774600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:54772600-54774600	Weak transcription	Brain Angular Gyrus	brain
11	chr4:54772600-54774600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:54772600-54774600	Bivalent Enhancer	Fetal Lung	lung
13	chr4:54772600-54774600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:54772600-54774600	Weak transcription	Hela-S3	cervix
15	chr4:54772600-54774600	Enhancers	HMEC	breast
16	chr4:54772600-54774600	Weak transcription	HSMM	muscle
17	chr4:54772600-54774800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:54772600-54774800	Weak transcription	Right Ventricle	heart
19	chr4:54772600-54775600	Enhancers	Fetal Stomach	stomach
20	chr4:54772800-54773600	Enhancers	Ovary	ovary
21	chr4:54772800-54773600	Enhancers	NHLF	lung
22	chr4:54772800-54774400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:54772800-54774400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:54772800-54774600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:54772800-54774600	Weak transcription	Psoas Muscle	Psoas
26	chr4:54772800-54774600	Weak transcription	A549	lung
27	chr4:54772800-54774600	Weak transcription	NH-A	brain
28	chr4:54772800-54774600	Enhancers	NHEK	skin
29	chr4:54772800-54775000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:54772800-54775000	Weak transcription	Right Atrium	heart
31	chr4:54772800-54775600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:54773000-54773800	Weak transcription	Aorta	Aorta
33	chr4:54773000-54774400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:54773000-54774400	Weak transcription	Liver	Liver
35	chr4:54773000-54774600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:54773000-54774600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:54773000-54774600	Weak transcription	HSMMtube	muscle
38	chr4:54773000-54774600	Enhancers	Osteobl	bone
39	chr4:54773000-54775000	Weak transcription	Dnd41	blood
40	chr4:54773200-54774400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:54773200-54774600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:54773200-54774600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:54773200-54774600	Enhancers	NHDF-Ad	bronchial
44	chr4:54773200-54775600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:54773400-54773800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:54773400-54774600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:54773400-54774600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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