Variant report

Variant	rs4394948
Chromosome Location	chr13:94387877-94387878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10508009	0.83[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap]
rs12585475	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1330620	0.83[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs17267898	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1933779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1933783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3848066	0.83[CHD][hapmap]
rs3899317	0.83[CHD][hapmap]
rs4085921	0.83[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap]
rs4561306	0.83[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs4771878	0.88[CEU][hapmap];0.83[CHB][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4771880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4771881	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773754	0.88[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs6492677	0.94[ASW][hapmap];0.84[CEU][hapmap];0.81[GIH][hapmap];0.84[LWK][hapmap];0.80[MEX][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7326436	0.86[EUR][1000 genomes]
rs7332553	0.83[CHB][hapmap];0.94[CHD][hapmap];0.89[MEX][hapmap]
rs7981536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7987964	0.94[ASW][hapmap];0.84[CEU][hapmap];0.84[LWK][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7993501	0.94[ASW][hapmap];0.84[CEU][hapmap];0.81[GIH][hapmap];0.84[LWK][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7995942	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs8001159	0.88[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs9301898	0.88[CHD][hapmap]
rs9301900	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9516273	0.96[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9516280	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9516282	0.84[CEU][hapmap]
rs9524163	0.83[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap]
rs9524172	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9524175	0.92[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9524184	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9556320	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9561416	0.83[CHD][hapmap]
rs9561431	0.86[EUR][1000 genomes]
rs9584153	0.84[CEU][hapmap];0.81[GIH][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes]
rs9589813	0.88[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9589816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948714	chr13:94100104-94699435	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv933807	chr13:94187158-94845505	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1039305	chr13:94229672-94398382	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1045230	chr13:94277683-94764671	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv562753	chr13:94283764-94402110	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv933758	chr13:94299302-94421378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv916694	chr13:94360053-94423063	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv832684	chr13:94379507-94550853	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94383600-94388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:94383600-94388000	Weak transcription	Fetal Heart	heart
3	chr13:94383800-94392600	Weak transcription	HSMMtube	muscle
4	chr13:94387800-94388800	Enhancers	Osteobl	bone

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