Variant report

Variant	rs12315869
Chromosome Location	chr12:41583941-41583942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11180595	0.85[AMR][1000 genomes]
rs11504342	0.85[AMR][1000 genomes]
rs12311702	0.85[AMR][1000 genomes]
rs12318064	0.85[AMR][1000 genomes]
rs12319621	0.85[AMR][1000 genomes]
rs12320153	0.85[AMR][1000 genomes]
rs55829782	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55877007	0.85[AMR][1000 genomes]
rs56089800	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73119019	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73120954	0.92[AMR][1000 genomes]
rs73120962	0.85[AMR][1000 genomes]
rs73120983	0.85[AMR][1000 genomes]
rs73120988	0.92[AMR][1000 genomes]
rs73121001	0.85[AMR][1000 genomes]
rs73122803	0.85[AMR][1000 genomes]
rs73122812	0.85[AMR][1000 genomes]
rs73122813	0.85[AMR][1000 genomes]
rs73122815	0.85[AMR][1000 genomes]
rs73122848	0.85[AMR][1000 genomes]
rs7316559	0.92[AMR][1000 genomes]
rs7971737	0.92[AMR][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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1048124	chr12:41499221-41585315	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
5	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41581200-41585200	Active TSS	Stomach Smooth Muscle	stomach
2	chr12:41581400-41584400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:41581600-41584200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:41581600-41584400	Active TSS	Rectal Smooth Muscle	rectum
5	chr12:41581800-41584000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:41581800-41584200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr12:41581800-41584200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr12:41581800-41584400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
9	chr12:41581800-41584600	Active TSS	Brain Substantia Nigra	brain
10	chr12:41581800-41585200	Active TSS	Colon Smooth Muscle	Colon
11	chr12:41582000-41584000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:41582000-41584000	Bivalent/Poised TSS	Colonic Mucosa	Colon
13	chr12:41582000-41584200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
14	chr12:41582000-41584200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
15	chr12:41582000-41584200	Active TSS	Right Atrium	heart
16	chr12:41582000-41584400	Active TSS	Aorta	Aorta
17	chr12:41582000-41584400	Bivalent Enhancer	Fetal Heart	heart
18	chr12:41582200-41584000	Active TSS	Brain Angular Gyrus	brain
19	chr12:41582200-41584000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
20	chr12:41582200-41584200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
21	chr12:41582400-41584000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:41582400-41584200	Bivalent/Poised TSS	Psoas Muscle	Psoas
23	chr12:41582600-41584000	Enhancers	Pancreas	Pancrea
24	chr12:41582600-41584000	Bivalent Enhancer	HMEC	breast
25	chr12:41582600-41584400	Active TSS	Ovary	ovary
26	chr12:41582800-41584000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:41582800-41584000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:41582800-41584000	Flanking Active TSS	Placenta	Placenta
29	chr12:41582800-41584000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
30	chr12:41582800-41584000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
31	chr12:41582800-41584200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
32	chr12:41582800-41584200	Bivalent/Poised TSS	Fetal Kidney	kidney
33	chr12:41582800-41584200	Flanking Bivalent TSS/Enh	NHEK	skin
34	chr12:41582800-41584400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:41582800-41584400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:41583000-41584000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:41583000-41584000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
38	chr12:41583000-41584200	Bivalent Enhancer	Fetal Lung	lung
39	chr12:41583000-41584400	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr12:41583000-41584400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
41	chr12:41583200-41584000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr12:41583200-41584000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:41583200-41584000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:41583200-41584000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:41583200-41584000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr12:41583200-41584000	Enhancers	Gastric	stomach
47	chr12:41583200-41584200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:41583200-41584200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:41583200-41584200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
50	chr12:41583400-41584000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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