Variant report

Variant	rs2470114
Chromosome Location	chr15:45930722-45930723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1816804	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2083729	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2099880	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4270120	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4271550	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs593126	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs607541	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs607594	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs626808	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629466	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs629880	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs642328	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs643190	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs644493	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs673208	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs673555	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs673596	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs675413	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs675876	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs675890	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs688967	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74009656	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74009657	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8036075	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8036651	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv904190	chr15:45892672-45960897	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	n/a
4	nsv904191	chr15:45902779-46381874	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45927400-45931000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr15:45927800-45931800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr15:45927800-45935400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr15:45928200-45931000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:45928200-45934200	Weak transcription	Ovary	ovary
6	chr15:45928800-45930800	Flanking Active TSS	GM12878-XiMat	blood
7	chr15:45929000-45930800	Enhancers	Fetal Muscle Leg	muscle
8	chr15:45929000-45939000	Enhancers	Stomach Mucosa	stomach
9	chr15:45929200-45930800	Enhancers	Fetal Muscle Trunk	muscle
10	chr15:45929200-45930800	Enhancers	Placenta	Placenta
11	chr15:45929200-45931000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:45929400-45932800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:45929400-45933000	Weak transcription	Spleen	Spleen
14	chr15:45929600-45931600	Weak transcription	Gastric	stomach
15	chr15:45929600-45931600	Weak transcription	Pancreas	Pancrea
16	chr15:45929800-45930800	Active TSS	Rectal Smooth Muscle	rectum
17	chr15:45929800-45933000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:45929800-45934000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:45930000-45931000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr15:45930000-45932600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr15:45930000-45933200	Enhancers	Esophagus	oesophagus
22	chr15:45930000-45934200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:45930000-45937800	Weak transcription	Right Ventricle	heart
24	chr15:45930200-45930800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:45930200-45930800	Enhancers	Fetal Stomach	stomach
26	chr15:45930200-45930800	Enhancers	HepG2	liver
27	chr15:45930200-45931000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr15:45930200-45931200	Enhancers	Aorta	Aorta
29	chr15:45930200-45931400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr15:45930200-45932000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr15:45930200-45932400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:45930200-45932400	Weak transcription	HSMMtube	muscle
33	chr15:45930200-45932400	Weak transcription	NH-A	brain
34	chr15:45930200-45932600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr15:45930200-45932600	Enhancers	HMEC	breast
36	chr15:45930200-45933000	Enhancers	Hela-S3	cervix
37	chr15:45930200-45933400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:45930200-45933400	Weak transcription	Brain Angular Gyrus	brain
39	chr15:45930200-45933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr15:45930200-45933600	Weak transcription	Brain Substantia Nigra	brain
41	chr15:45930200-45933800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:45930200-45933800	Weak transcription	Fetal Kidney	kidney
43	chr15:45930200-45933800	Weak transcription	Fetal Lung	lung
44	chr15:45930200-45934200	Weak transcription	Brain Anterior Caudate	brain
45	chr15:45930200-45935800	Enhancers	Fetal Intestine Large	intestine
46	chr15:45930400-45930800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:45930400-45931200	Enhancers	Primary B cells from peripheral blood	blood
48	chr15:45930400-45931200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr15:45930400-45931200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr15:45930400-45931200	Enhancers	Lung	lung

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