Variant report

Variant	rs12491419
Chromosome Location	chr3:47102689-47102690
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12485582	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12486248	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12487863	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12489851	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12497141	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17079425	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2305632	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2305640	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35201996	0.89[ASN][1000 genomes]
rs3816531	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4082156	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4683276	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4683321	0.84[AMR][1000 genomes]
rs59601660	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs60285825	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61364027	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7372834	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	chr3:47083000-47106400	Weak transcription	Colonic Mucosa	Colon
6	chr3:47083200-47135200	Weak transcription	Small Intestine	intestine
7	chr3:47083400-47117200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:47083400-47138600	Weak transcription	Psoas Muscle	Psoas
9	chr3:47084200-47102800	Weak transcription	HUVEC	blood vessel
10	chr3:47084400-47104800	Weak transcription	Fetal Kidney	kidney
11	chr3:47084400-47116000	Weak transcription	Right Ventricle	heart
12	chr3:47088200-47112800	Weak transcription	NHDF-Ad	bronchial
13	chr3:47089000-47117000	Weak transcription	Fetal Heart	heart
14	chr3:47089400-47107000	Weak transcription	Brain Substantia Nigra	brain
15	chr3:47089600-47103600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:47093400-47122600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr3:47093600-47109800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:47093800-47123400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr3:47094200-47123800	Weak transcription	Esophagus	oesophagus
20	chr3:47094600-47113400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:47095800-47121000	Weak transcription	Fetal Brain Male	brain
22	chr3:47096200-47111200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr3:47096800-47105400	Strong transcription	Fetal Intestine Small	intestine
24	chr3:47096800-47108200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:47097600-47108800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:47097800-47105400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr3:47098800-47103000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:47098800-47103600	Weak transcription	Fetal Lung	lung
29	chr3:47098800-47104400	Weak transcription	GM12878-XiMat	blood
30	chr3:47098800-47105600	Weak transcription	NH-A	brain
31	chr3:47098800-47106600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr3:47098800-47106600	Weak transcription	Ovary	ovary
33	chr3:47098800-47115200	Weak transcription	HSMMtube	muscle
34	chr3:47098800-47118200	Weak transcription	NHLF	lung
35	chr3:47098800-47121800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:47098800-47122000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:47098800-47122000	Weak transcription	Aorta	Aorta
38	chr3:47098800-47149600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:47099000-47102800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:47099000-47102800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr3:47099000-47103000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:47099000-47103400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr3:47099000-47103600	Weak transcription	Thymus	Thymus
44	chr3:47099000-47103800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr3:47099000-47104000	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:47099000-47104200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr3:47099000-47104800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr3:47099000-47105800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr3:47099000-47107000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:47099000-47107000	Weak transcription	Lung	lung

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