Variant report

Variant	rs73079603
Chromosome Location	chr3:47108361-47108362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17784031	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874265	1.00[ASN][1000 genomes]
rs1982510	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41290648	1.00[ASN][1000 genomes]
rs55691981	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55786350	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56121448	1.00[ASN][1000 genomes]
rs56273245	1.00[ASN][1000 genomes]
rs57249369	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62246361	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62246379	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62246402	0.94[EUR][1000 genomes]
rs62246404	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62246409	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62246470	1.00[ASN][1000 genomes]
rs62248895	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62248910	1.00[ASN][1000 genomes]
rs62248950	1.00[ASN][1000 genomes]
rs73075647	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv997261	chr3:47054766-47133680	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47078000-47130600	Weak transcription	Stomach Mucosa	stomach
2	chr3:47079600-47123800	Weak transcription	Pancreas	Pancrea
3	chr3:47079600-47124200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:47079800-47124200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:47083200-47135200	Weak transcription	Small Intestine	intestine
6	chr3:47083400-47117200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:47083400-47138600	Weak transcription	Psoas Muscle	Psoas
8	chr3:47084400-47116000	Weak transcription	Right Ventricle	heart
9	chr3:47088200-47112800	Weak transcription	NHDF-Ad	bronchial
10	chr3:47089000-47117000	Weak transcription	Fetal Heart	heart
11	chr3:47093400-47122600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr3:47093600-47109800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:47093800-47123400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr3:47094200-47123800	Weak transcription	Esophagus	oesophagus
15	chr3:47094600-47113400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:47095800-47121000	Weak transcription	Fetal Brain Male	brain
17	chr3:47096200-47111200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:47097600-47108800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:47098800-47115200	Weak transcription	HSMMtube	muscle
20	chr3:47098800-47118200	Weak transcription	NHLF	lung
21	chr3:47098800-47121800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:47098800-47122000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:47098800-47122000	Weak transcription	Aorta	Aorta
24	chr3:47098800-47149600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr3:47099000-47109200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:47099000-47112800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:47099000-47115000	Weak transcription	Brain Angular Gyrus	brain
28	chr3:47099000-47118200	Weak transcription	Brain Anterior Caudate	brain
29	chr3:47099000-47121600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:47099000-47121800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:47099000-47121800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:47099000-47121800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:47099000-47122000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:47099000-47122000	Weak transcription	Gastric	stomach
35	chr3:47099000-47125200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:47099000-47128200	Weak transcription	Spleen	Spleen
37	chr3:47099200-47119200	Weak transcription	A549	lung
38	chr3:47099200-47122000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr3:47099800-47112200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:47099800-47112800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr3:47100000-47118000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr3:47100000-47122200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:47101000-47125200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:47101200-47108800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:47101200-47114000	Strong transcription	Fetal Thymus	thymus
46	chr3:47101200-47123800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:47101400-47110000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr3:47101400-47147800	Strong transcription	Dnd41	blood
49	chr3:47101600-47108800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr3:47101600-47109000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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