Variant report

Variant	rs2275272
Chromosome Location	chr10:97388162-97388163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11592789	1.00[CEU][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs11592809	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593038	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11593693	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11594687	0.81[EUR][1000 genomes]
rs11595122	1.00[CEU][hapmap]
rs11595248	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11598540	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12354465	1.00[CHB][hapmap]
rs12357513	1.00[CHB][hapmap]
rs12359410	1.00[CHB][hapmap]
rs12761112	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12761960	1.00[CEU][hapmap]
rs12763743	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12765494	0.87[EUR][1000 genomes]
rs12767650	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12770313	1.00[CEU][hapmap]
rs12770849	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12774334	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12775780	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12779833	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12780375	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12781327	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12782273	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1409710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296690	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176886	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3176888	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34296389	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34332904	0.88[EUR][1000 genomes]
rs34460407	0.81[EUR][1000 genomes]
rs34533159	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34832675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34847853	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35700869	1.00[CEU][hapmap];0.95[TSI][hapmap]
rs35712039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35822210	0.80[EUR][1000 genomes]
rs3765571	0.90[CHD][hapmap];1.00[ASN][1000 genomes]
rs3793746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3793751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs493193	0.92[LWK][hapmap]
rs533383	0.92[LWK][hapmap]
rs568046	0.92[LWK][hapmap]
rs57670810	0.90[EUR][1000 genomes]
rs67783179	0.80[EUR][1000 genomes]
rs67857430	0.81[EUR][1000 genomes]
rs7073937	1.00[CHB][hapmap]
rs71482367	0.86[EUR][1000 genomes]
rs71482376	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71482377	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71482378	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526180	chr10:97332195-97511037	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2275272	CPEB3	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97364000-97409200	Strong transcription	Primary T cells from cord blood	blood
2	chr10:97364000-97411000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:97364400-97403200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:97364600-97388400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:97364800-97403400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:97364800-97411000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:97365000-97403000	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr10:97365000-97403400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr10:97367400-97388600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:97367600-97388400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:97368400-97393000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr10:97376200-97400600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr10:97376400-97411400	Weak transcription	Psoas Muscle	Psoas
14	chr10:97376400-97415200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:97376600-97415000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr10:97378200-97391800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:97378600-97414200	Weak transcription	Fetal Heart	heart
18	chr10:97379800-97403200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr10:97380200-97399200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:97380200-97403200	Strong transcription	Fetal Muscle Leg	muscle
21	chr10:97380200-97403400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr10:97380200-97408800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr10:97380600-97403000	Strong transcription	NH-A	brain
24	chr10:97380600-97403200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:97380600-97403200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:97380600-97408000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:97380800-97388800	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:97380800-97409000	Strong transcription	Osteobl	bone
29	chr10:97381000-97391600	Weak transcription	Brain Angular Gyrus	brain
30	chr10:97381200-97403400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:97381400-97393000	Weak transcription	Thymus	Thymus
32	chr10:97381600-97403000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:97382200-97390600	Weak transcription	NHEK	skin
34	chr10:97382800-97389200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:97383000-97411200	Strong transcription	Placenta	Placenta
36	chr10:97383200-97403000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr10:97383400-97398800	Strong transcription	Dnd41	blood
38	chr10:97383400-97400200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr10:97383400-97403000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr10:97383600-97388800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:97383600-97389200	Strong transcription	Aorta	Aorta
42	chr10:97383800-97388600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr10:97383800-97388600	Strong transcription	HepG2	liver
44	chr10:97383800-97388800	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr10:97383800-97388800	Strong transcription	Fetal Thymus	thymus
46	chr10:97383800-97388800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr10:97383800-97389400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr10:97383800-97390800	Strong transcription	Ovary	ovary
49	chr10:97383800-97394800	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr10:97383800-97395400	Strong transcription	HSMMtube	muscle

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