Variant report

Variant	rs1552255
Chromosome Location	chr3:50692547-50692548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50690479..50693094-chr3:50743826..50746673,2	K562	blood:
2	chr3:50690938..50693728-chr3:50694642..50698811,4	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1038415	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs107457	0.80[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11130258	0.83[AMR][1000 genomes]
rs11923336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13092850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13325937	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1552256	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051012	1.00[EUR][1000 genomes]
rs17051016	1.00[EUR][1000 genomes]
rs17051017	1.00[EUR][1000 genomes]
rs17051404	1.00[EUR][1000 genomes]
rs1843073	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2129069	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2232251	1.00[EUR][1000 genomes]
rs2262848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2355337	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2355701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2459450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2608994	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2608996	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2609004	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2609014	1.00[AMR][1000 genomes]
rs2609015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2609027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2609030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675775	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2675779	0.83[YRI][hapmap]
rs2675781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675797	1.00[AMR][1000 genomes]
rs2675798	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2675815	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2675823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675833	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs407164	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs421689	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4234694	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4234695	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4267639	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4340700	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4401355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4423762	1.00[AMR][1000 genomes]
rs4440121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4688675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4688704	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4688717	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55852678	1.00[EUR][1000 genomes]
rs56112107	1.00[EUR][1000 genomes]
rs56198179	1.00[EUR][1000 genomes]
rs56341000	1.00[EUR][1000 genomes]
rs56413944	1.00[EUR][1000 genomes]
rs57756789	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57987466	1.00[EUR][1000 genomes]
rs58854038	1.00[EUR][1000 genomes]
rs58911362	1.00[EUR][1000 genomes]
rs59065723	1.00[EUR][1000 genomes]
rs59337835	1.00[EUR][1000 genomes]
rs59340349	1.00[EUR][1000 genomes]
rs59944295	1.00[EUR][1000 genomes]
rs60132317	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60455882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs609678	1.00[EUR][1000 genomes]
rs61032466	1.00[EUR][1000 genomes]
rs61455710	1.00[EUR][1000 genomes]
rs621975	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs628865	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6446223	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs650473	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs665943	1.00[EUR][1000 genomes]
rs6768539	1.00[EUR][1000 genomes]
rs6789552	1.00[EUR][1000 genomes]
rs6807662	1.00[AMR][1000 genomes]
rs73833231	1.00[EUR][1000 genomes]
rs73833232	1.00[EUR][1000 genomes]
rs73833239	1.00[EUR][1000 genomes]
rs73833247	1.00[EUR][1000 genomes]
rs73833251	1.00[AMR][1000 genomes]
rs73833935	1.00[EUR][1000 genomes]
rs73833947	1.00[EUR][1000 genomes]
rs73833949	1.00[EUR][1000 genomes]
rs73835518	1.00[EUR][1000 genomes]
rs73835533	1.00[EUR][1000 genomes]
rs73835535	1.00[EUR][1000 genomes]
rs73835537	1.00[EUR][1000 genomes]
rs73835538	1.00[EUR][1000 genomes]
rs7650772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7653228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936714	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9825283	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9840476	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9851304	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9854588	1.00[AMR][1000 genomes]
rs9857033	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50670400-50699800	Weak transcription	Hela-S3	cervix
2	chr3:50685200-50692800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:50685400-50693000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:50685400-50693000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr3:50685800-50703800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:50686400-50692600	Weak transcription	Fetal Thymus	thymus
7	chr3:50686600-50692800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr3:50687000-50696400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:50687000-50712000	Weak transcription	Right Atrium	heart
10	chr3:50687200-50693000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:50687400-50692600	Weak transcription	Primary B cells from cord blood	blood
12	chr3:50687400-50695600	Weak transcription	HMEC	breast
13	chr3:50687600-50694200	Weak transcription	Lung	lung
14	chr3:50687600-50697400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:50687600-50702400	Weak transcription	Spleen	Spleen
16	chr3:50688000-50692800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:50688000-50693600	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:50688200-50702600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:50688800-50702600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:50689000-50693600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:50689200-50692800	Weak transcription	Right Ventricle	heart
22	chr3:50690200-50702200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:50690400-50694400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:50690400-50700200	Weak transcription	Left Ventricle	heart
25	chr3:50691400-50692800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:50691600-50693000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:50691800-50693000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:50691800-50693000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr3:50691800-50693200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr3:50692000-50693000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr3:50692000-50693000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:50692000-50693000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr3:50692000-50693200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:50692000-50693200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr3:50692000-50693200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr3:50692200-50692800	Enhancers	HSMM	muscle
37	chr3:50692200-50692800	Enhancers	NHDF-Ad	bronchial
38	chr3:50692200-50693000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:50692200-50693000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:50692200-50693000	Enhancers	NHEK	skin
41	chr3:50692400-50692600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr3:50692400-50692600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr3:50692400-50692600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:50692400-50692600	Enhancers	Osteobl	bone
45	chr3:50692400-50693000	Weak transcription	Esophagus	oesophagus
46	chr3:50692400-50693200	Enhancers	Primary T helper cells PMA-I stimulated	--

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