Variant report

Variant	rs2717388
Chromosome Location	chr3:144276928-144276929
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10935507	0.83[EUR][1000 genomes]
rs13066453	0.81[ASN][1000 genomes]
rs1527238	0.81[ASN][1000 genomes]
rs1657010	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1726522	0.96[ASN][1000 genomes]
rs1726536	0.94[ASN][1000 genomes]
rs1726538	0.94[ASN][1000 genomes]
rs1813698	0.90[ASN][1000 genomes]
rs2222702	0.98[ASN][1000 genomes]
rs2575189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2575191	0.94[ASN][1000 genomes]
rs2694959	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2717380	0.98[ASN][1000 genomes]
rs2717387	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2717389	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2717390	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34130084	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4337676	0.80[ASN][1000 genomes]
rs4398472	0.80[ASN][1000 genomes]
rs4408907	0.80[ASN][1000 genomes]
rs4479640	0.81[ASN][1000 genomes]
rs4544660	0.80[ASN][1000 genomes]
rs4568182	0.80[ASN][1000 genomes]
rs4594657	0.80[ASN][1000 genomes]
rs4681125	0.81[ASN][1000 genomes]
rs4681331	0.80[ASN][1000 genomes]
rs4681342	0.81[ASN][1000 genomes]
rs6440258	0.81[ASN][1000 genomes]
rs6783056	0.80[ASN][1000 genomes]
rs6799623	0.81[ASN][1000 genomes]
rs6800761	0.80[ASN][1000 genomes]
rs721029	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs721030	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614253	0.80[ASN][1000 genomes]
rs7615146	0.81[ASN][1000 genomes]
rs7616429	0.81[ASN][1000 genomes]
rs7628103	0.80[ASN][1000 genomes]
rs7634647	0.81[ASN][1000 genomes]
rs7650699	0.80[ASN][1000 genomes]
rs7653820	0.81[ASN][1000 genomes]
rs9833354	0.81[ASN][1000 genomes]
rs9844730	0.83[EUR][1000 genomes]
rs9870285	0.95[ASN][1000 genomes]
rs9878902	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532633	chr3:143802417-144440646	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591928	chr3:144050897-144822081	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2756108	chr3:144177836-144301659	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv877571	chr3:144188561-144291254	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3379740	chr3:144225847-144433818	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1010388	chr3:144236022-144326640	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2757895	chr3:144236202-144391387	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2759185	chr3:144236202-144391387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1013350	chr3:144239415-144326640	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv536754	chr3:144239415-144326640	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv877572	chr3:144244265-144312402	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1012719	chr3:144264442-144283362	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
13	nsv877573	chr3:144265840-144323993	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv1014395	chr3:144268563-144283849	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144274000-144277000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:144275200-144279800	Enhancers	Fetal Intestine Small	intestine
3	chr3:144276200-144277000	Enhancers	NHEK	skin
4	chr3:144276400-144277000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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