Variant report

Variant	rs1511380
Chromosome Location	chr3:141039349-141039350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141034601..141036364-chr3:141038270..141040107,2	K562	blood:
2	chr3:141038218..141041053-chr3:141044225..141046935,2	K562	blood:
3	chr3:141039246..141041053-chr3:141044683..141046935,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13063736	0.88[EUR][1000 genomes]
rs13095453	0.80[GIH][hapmap]
rs13324219	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13434224	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1983235	0.82[YRI][hapmap];0.80[AFR][1000 genomes]
rs4325905	0.96[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6765857	0.82[MEX][hapmap]
rs6777886	0.87[ASW][hapmap];1.00[CHD][hapmap];0.89[MKK][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs6795197	0.87[ASW][hapmap];1.00[CHD][hapmap];0.85[MKK][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs6795377	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs7616781	0.96[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7636469	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs9823774	0.88[EUR][1000 genomes]
rs9823785	0.86[EUR][1000 genomes]
rs9829470	0.92[CEU][hapmap];0.95[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9843461	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs9857275	0.80[GIH][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	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv460871	chr3:141027614-141074962	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv591893	chr3:141027614-141074962	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1511380	RASA2	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141031600-141039800	Weak transcription	NHDF-Ad	bronchial
2	chr3:141031800-141039800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:141031800-141047400	Weak transcription	Right Ventricle	heart
4	chr3:141032200-141039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:141032600-141039600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:141035800-141040000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:141038800-141039400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr3:141039000-141039600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:141039000-141039600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr3:141039000-141039800	ZNF genes & repeats	GM12878-XiMat	blood
11	chr3:141039000-141041000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:141039000-141041200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr3:141039000-141041400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr3:141039200-141040200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr3:141039200-141040400	Enhancers	Primary B cells from peripheral blood	blood
16	chr3:141039200-141040800	Enhancers	Primary T cells from cord blood	blood
17	chr3:141039200-141041000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr3:141039200-141041000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:141039200-141041000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:141039200-141041200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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