Variant report

Variant	rs4151452
Chromosome Location	chr13:48918515-48918516
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48877798..48879447-chr13:48917286..48919351,2	K562	blood:

Variant related genes	Relation type
ENSG00000139687	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1002865	1.00[CEU][hapmap]
rs12584784	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs171988	0.95[ASN][1000 genomes]
rs171990	0.98[ASN][1000 genomes]
rs17349061	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs174857	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs198568	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs198571	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs198574	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs198575	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs198576	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs198577	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs198606	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs198608	0.92[ASN][1000 genomes]
rs198609	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs198610	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs198614	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs198622	1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs198627	0.85[ASN][1000 genomes]
rs198629	0.89[ASN][1000 genomes]
rs198630	0.95[ASN][1000 genomes]
rs198631	1.00[ASN][1000 genomes]
rs2006125	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2006126	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2070752	0.98[ASN][1000 genomes]
rs2274400	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap]
rs2804094	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2804095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2854342	1.00[JPT][hapmap]
rs2854348	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2854353	1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs2854357	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs2854362	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs3092865	0.86[YRI][hapmap]
rs3092888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3092898	0.87[EUR][1000 genomes]
rs3092899	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34802393	0.97[AFR][1000 genomes]
rs3825419	0.88[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs398158	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs403390	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs406098	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs4151434	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4151441	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4151442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4151448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4151456	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs4151461	0.92[ASN][1000 genomes]
rs4151474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4151476	1.00[ASN][1000 genomes]
rs4151525	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs4151601	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap]
rs425834	1.00[CHB][hapmap]
rs427686	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs56871512	0.90[ASN][1000 genomes]
rs58658780	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60887299	0.92[ASN][1000 genomes]
rs6561448	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs6561457	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs7324532	0.82[ASN][1000 genomes]
rs7325962	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7333985	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7335353	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73488925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73495016	0.87[EUR][1000 genomes]
rs74075993	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7983002	1.00[ASN][1000 genomes]
rs7995216	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes]
rs7996186	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap]
rs7996717	1.00[CEU][hapmap]
rs8001241	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs8002352	1.00[CEU][hapmap]
rs8002565	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs877664	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9331965	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap]
rs9331973	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap]
rs9332054	0.81[JPT][hapmap]
rs9332246	1.00[CEU][hapmap]
rs9332278	1.00[CEU][hapmap]
rs9332304	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039312	chr13:48898950-48925357	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1038705	chr13:48899219-48922327	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1042504	chr13:48911264-48925357	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48880600-48924600	Weak transcription	Psoas Muscle	Psoas
2	chr13:48892600-48927800	Weak transcription	HUVEC	blood vessel
3	chr13:48894600-48919200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:48895200-48923600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr13:48895200-48924600	Weak transcription	HSMMtube	muscle
6	chr13:48895400-48924800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:48895800-48919600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr13:48895800-48920400	Weak transcription	Right Ventricle	heart
9	chr13:48895800-48926600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr13:48896000-48919800	Weak transcription	Primary T cells from cord blood	blood
11	chr13:48903400-48924400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr13:48908400-48922200	Weak transcription	Liver	Liver
13	chr13:48908400-48944800	Weak transcription	Small Intestine	intestine
14	chr13:48908800-48919200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:48908800-48919600	Weak transcription	HMEC	breast
16	chr13:48908800-48927600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr13:48909000-48923600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr13:48909000-48924400	Weak transcription	Osteobl	bone
19	chr13:48909000-48972200	Weak transcription	NHEK	skin
20	chr13:48911800-48919600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr13:48911800-48948400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr13:48912200-48968200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr13:48913200-48919400	Weak transcription	Brain Anterior Caudate	brain
24	chr13:48913200-48924800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr13:48913400-48923400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:48913400-48925800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:48913400-48944200	Weak transcription	Aorta	Aorta
28	chr13:48913800-48919200	Weak transcription	Adipose Nuclei	Adipose
29	chr13:48913800-48923400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr13:48913800-48924800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:48913800-48924800	Weak transcription	Thymus	Thymus
32	chr13:48913800-48926200	Weak transcription	Gastric	stomach
33	chr13:48914000-48920400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:48914000-48921200	Weak transcription	Fetal Intestine Small	intestine
35	chr13:48914000-48923400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr13:48914000-48923600	Weak transcription	Fetal Lung	lung
37	chr13:48914000-48924800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr13:48914000-48924800	Weak transcription	Ovary	ovary
39	chr13:48914000-48944400	Weak transcription	Fetal Stomach	stomach
40	chr13:48914000-48965800	Weak transcription	Lung	lung
41	chr13:48914400-48919200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr13:48914400-48919200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:48914400-48919200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr13:48914400-48921800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr13:48914400-48923200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr13:48914400-48923800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:48914400-48926400	Weak transcription	Fetal Intestine Large	intestine
48	chr13:48914400-48927200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr13:48914600-48926600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr13:48914800-48922800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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