Variant report

Variant	rs17470719
Chromosome Location	chr3:142957007-142957008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142955679..142958275-chr3:142964132..142966713,2	K562	blood:
2	chr3:142956744..142958765-chr3:142965944..142967632,2	K562	blood:
3	chr3:142948047..142951312-chr3:142952653..142957193,4	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11708440	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715203	0.84[ASN][1000 genomes]
rs1550548	0.85[ASN][1000 genomes]
rs1667712	0.81[ASN][1000 genomes]
rs169808	0.85[ASN][1000 genomes]
rs186077	0.84[ASN][1000 genomes]
rs2165519	0.87[ASN][1000 genomes]
rs2165520	0.84[ASN][1000 genomes]
rs2165521	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2583458	0.83[ASN][1000 genomes]
rs2596616	0.82[ASN][1000 genomes]
rs294465	0.84[ASN][1000 genomes]
rs294469	0.85[ASN][1000 genomes]
rs294471	0.84[ASN][1000 genomes]
rs294472	0.85[ASN][1000 genomes]
rs294473	0.85[ASN][1000 genomes]
rs4371486	0.82[CEU][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs4683461	0.83[CHB][hapmap]
rs4839588	0.84[ASN][1000 genomes]
rs4839591	0.84[ASN][1000 genomes]
rs4839616	0.85[ASN][1000 genomes]
rs4839617	0.85[ASN][1000 genomes]
rs4839618	0.85[ASN][1000 genomes]
rs4839619	0.84[ASN][1000 genomes]
rs4839621	0.85[ASN][1000 genomes]
rs4839629	0.84[ASN][1000 genomes]
rs4839637	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4839656	0.84[ASN][1000 genomes]
rs54520	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs57923975	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279674	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6414352	0.85[ASN][1000 genomes]
rs6440149	0.85[ASN][1000 genomes]
rs6440150	0.85[ASN][1000 genomes]
rs6440151	0.85[ASN][1000 genomes]
rs6440152	0.85[ASN][1000 genomes]
rs6440153	0.84[ASN][1000 genomes]
rs6440154	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6765181	0.84[ASN][1000 genomes]
rs67665960	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6772917	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6776634	0.84[ASN][1000 genomes]
rs6777882	0.84[ASN][1000 genomes]
rs6778330	0.84[ASN][1000 genomes]
rs6781821	0.83[ASN][1000 genomes]
rs6781909	0.85[ASN][1000 genomes]
rs6785002	0.84[ASN][1000 genomes]
rs6785085	0.82[ASN][1000 genomes]
rs6786129	0.85[ASN][1000 genomes]
rs6787156	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6795908	0.84[ASN][1000 genomes]
rs6796353	0.84[ASN][1000 genomes]
rs6803862	0.85[ASN][1000 genomes]
rs6808316	0.87[ASN][1000 genomes]
rs7611317	0.83[ASN][1000 genomes]
rs7622977	0.82[ASN][1000 genomes]
rs7632649	0.85[ASN][1000 genomes]
rs7642629	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646566	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs834906	0.84[ASN][1000 genomes]
rs834907	0.85[ASN][1000 genomes]
rs834908	0.85[ASN][1000 genomes]
rs834909	0.85[ASN][1000 genomes]
rs834910	0.85[ASN][1000 genomes]
rs9289656	0.84[ASN][1000 genomes]
rs9289657	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9809153	0.83[ASN][1000 genomes]
rs9821086	0.81[JPT][hapmap]
rs9830629	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9831427	0.87[EUR][1000 genomes]
rs9847552	0.80[ASN][1000 genomes]
rs9874117	0.87[EUR][1000 genomes]
rs990738	0.84[ASN][1000 genomes]
rs991419	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv34280	chr3:142887460-142962075	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv818171	chr3:142894411-142960273	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1009573	chr3:142896048-142959777	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2757014	chr3:142905661-142964373	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142953200-142957600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:142953800-142957600	Weak transcription	HSMM	muscle
3	chr3:142954000-142958400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:142954800-142962000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:142955200-142957400	Enhancers	Fetal Thymus	thymus
6	chr3:142955200-142972000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:142955600-142957600	Weak transcription	Placenta	Placenta
8	chr3:142955800-142957200	Enhancers	GM12878-XiMat	blood
9	chr3:142956000-142957200	Enhancers	HSMMtube	muscle
10	chr3:142956200-142958400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:142956400-142957800	Weak transcription	NH-A	brain
12	chr3:142956400-142958200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:142956400-142959800	Weak transcription	Fetal Stomach	stomach
14	chr3:142956400-142964600	Weak transcription	K562	blood
15	chr3:142956600-142957800	Weak transcription	NHDF-Ad	bronchial
16	chr3:142956600-142959200	Weak transcription	Primary T cells from cord blood	blood
17	chr3:142956600-142959800	Weak transcription	Fetal Lung	lung
18	chr3:142956600-142966000	Weak transcription	Fetal Kidney	kidney
19	chr3:142957000-142958800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:142957000-142961800	Enhancers	HUVEC	blood vessel

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