Variant report

Variant	rs12972886
Chromosome Location	chr19:53655169-53655170
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10408917	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1613687	0.99[EUR][1000 genomes]
rs1650972	0.99[EUR][1000 genomes]
rs2584269	0.99[EUR][1000 genomes]
rs7251457	0.99[EUR][1000 genomes]
rs7253161	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9967643	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers 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	39 gene(s)	inside rSNPs	diseases
6	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
9	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv912350	chr19:53636016-53687818	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv960866	chr19:53652539-53662610	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12972886	ZNF415	cis	Artery Tibial	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53640000-53660600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:53640600-53655800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:53642800-53655600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:53643400-53660400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:53645400-53655800	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr19:53645800-53660800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:53647200-53655200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr19:53647400-53655200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr19:53647400-53656400	ZNF genes & repeats	Fetal Intestine Large	intestine
10	chr19:53647600-53658000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:53647800-53655600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:53647800-53659200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:53649000-53660800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:53651400-53656400	Weak transcription	K562	blood
15	chr19:53651400-53657400	Strong transcription	Brain Angular Gyrus	brain
16	chr19:53651800-53655800	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr19:53651800-53660800	Weak transcription	Fetal Heart	heart
18	chr19:53652000-53657400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr19:53652000-53658000	Strong transcription	Dnd41	blood
20	chr19:53652000-53660400	Weak transcription	Brain Substantia Nigra	brain
21	chr19:53652200-53661000	Weak transcription	HSMMtube	muscle
22	chr19:53652600-53659200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:53652600-53660600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr19:53652800-53656600	Weak transcription	Brain Hippocampus Middle	brain
25	chr19:53653000-53655600	Strong transcription	Fetal Kidney	kidney
26	chr19:53653000-53657200	Strong transcription	Osteobl	bone
27	chr19:53653000-53660400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr19:53653000-53660600	Weak transcription	Colon Smooth Muscle	Colon
29	chr19:53653200-53660200	Strong transcription	Fetal Stomach	stomach
30	chr19:53653400-53656400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
31	chr19:53653600-53655200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:53653600-53655200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr19:53653600-53655400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:53653600-53655400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:53653600-53656000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr19:53653600-53656400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr19:53653600-53656600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:53653600-53656600	Weak transcription	Aorta	Aorta
39	chr19:53653600-53656600	Weak transcription	Gastric	stomach
40	chr19:53653600-53656800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:53653600-53656800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:53653600-53657000	Weak transcription	Esophagus	oesophagus
43	chr19:53653600-53657000	Weak transcription	Spleen	Spleen
44	chr19:53653600-53657200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:53653600-53657200	Weak transcription	Pancreas	Pancrea
46	chr19:53653600-53658200	Strong transcription	Ovary	ovary
47	chr19:53653600-53658600	Weak transcription	Left Ventricle	heart
48	chr19:53653600-53659200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr19:53653600-53659600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr19:53653600-53660000	Weak transcription	Brain Anterior Caudate	brain

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