Variant report

Variant	rs10483295
Chromosome Location	chr14:25580343-25580344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1062229	1.00[CHB][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs11626966	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs11627467	1.00[ASN][1000 genomes]
rs11628114	1.00[CHB][hapmap]
rs17109538	1.00[CHB][hapmap]
rs7153942	0.85[MEX][hapmap]
rs72682999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004614	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv901511	chr14:25505085-25588029	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3490801	chr14:25560793-25675699	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3490802	chr14:25560793-25675699	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10483295	CEBPE	cis	parietal	SCAN
rs10483295	NYNRIN	cis	cerebellum	SCAN
rs10483295	LTB4R	cis	cerebellum	SCAN
rs10483295	APEX1	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25577600-25581200	Enhancers	Fetal Heart	heart
2	chr14:25577800-25580400	Enhancers	HSMMtube	muscle
3	chr14:25577800-25580800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:25577800-25580800	Enhancers	Brain Hippocampus Middle	brain
5	chr14:25577800-25581200	Enhancers	NHLF	lung
6	chr14:25577800-25582600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr14:25578000-25580400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:25578000-25580600	Enhancers	Osteobl	bone
9	chr14:25578000-25580800	Enhancers	Brain Substantia Nigra	brain
10	chr14:25578000-25581200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:25578200-25580600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:25578400-25580600	Weak transcription	Right Atrium	heart
13	chr14:25578400-25580800	Enhancers	Brain Cingulate Gyrus	brain
14	chr14:25578400-25583400	Weak transcription	Psoas Muscle	Psoas
15	chr14:25578600-25580600	Weak transcription	Left Ventricle	heart
16	chr14:25578600-25580600	Weak transcription	Right Ventricle	heart
17	chr14:25578600-25580600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:25578600-25582000	Weak transcription	Stomach Mucosa	stomach
19	chr14:25578600-25583600	Weak transcription	Gastric	stomach
20	chr14:25578800-25580400	Weak transcription	Fetal Lung	lung
21	chr14:25579200-25580400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:25579200-25580400	Enhancers	NH-A	brain
23	chr14:25579200-25580800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr14:25579200-25581200	Enhancers	Fetal Muscle Leg	muscle
25	chr14:25579400-25580400	Weak transcription	Colon Smooth Muscle	Colon
26	chr14:25579400-25582600	Weak transcription	Fetal Intestine Small	intestine
27	chr14:25579600-25580400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:25579600-25580800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:25579600-25580800	Enhancers	Rectal Smooth Muscle	rectum
30	chr14:25579800-25580400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:25579800-25580400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:25580000-25580400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr14:25580000-25580400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:25580000-25580400	Enhancers	Brain Anterior Caudate	brain
35	chr14:25580000-25581200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr14:25580200-25580600	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr14:25580200-25580600	Weak transcription	NHDF-Ad	bronchial
38	chr14:25580200-25580800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:25580200-25580800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:25580200-25580800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr14:25580200-25580800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:25580200-25580800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:25580200-25580800	Enhancers	Fetal Intestine Large	intestine
44	chr14:25580200-25580800	Enhancers	Pancreas	Pancrea
45	chr14:25580200-25580800	Active TSS	HSMM	muscle
46	chr14:25580200-25581000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:25580200-25581200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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