Variant report

Variant	rs4246030
Chromosome Location	chr5:151906048-151906049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10036750	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10045463	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10053277	0.81[AMR][1000 genomes]
rs10061873	0.83[AMR][1000 genomes]
rs1035398	1.00[JPT][hapmap]
rs10515669	1.00[JPT][hapmap]
rs12188564	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17113291	1.00[JPT][hapmap]
rs17451282	1.00[JPT][hapmap]
rs17451303	1.00[JPT][hapmap]
rs17452090	0.85[AMR][1000 genomes]
rs17452991	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17453481	1.00[AFR][1000 genomes]
rs17453530	1.00[AFR][1000 genomes]
rs17453740	1.00[AFR][1000 genomes]
rs17453775	1.00[AFR][1000 genomes]
rs17454420	1.00[AFR][1000 genomes]
rs17549307	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17549488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17550343	1.00[AFR][1000 genomes]
rs2080930	1.00[JPT][hapmap]
rs2194084	1.00[JPT][hapmap]
rs28663290	0.85[AMR][1000 genomes]
rs28687145	0.84[AMR][1000 genomes]
rs2961741	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2961766	0.80[EUR][1000 genomes]
rs2964230	0.80[EUR][1000 genomes]
rs4342320	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4407620	0.85[AMR][1000 genomes]
rs4475248	0.85[AMR][1000 genomes]
rs4478308	0.80[EUR][1000 genomes]
rs4557395	1.00[AFR][1000 genomes]
rs4958323	1.00[AFR][1000 genomes]
rs4958543	1.00[JPT][hapmap]
rs4958551	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4958554	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4958555	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4958557	0.83[AMR][1000 genomes]
rs4958559	0.82[AMR][1000 genomes]
rs4958561	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4958562	1.00[AFR][1000 genomes]
rs55648729	1.00[AFR][1000 genomes]
rs55696164	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55748286	0.85[AMR][1000 genomes]
rs55858427	0.85[AMR][1000 genomes]
rs56012817	0.83[AMR][1000 genomes]
rs56014830	1.00[AFR][1000 genomes]
rs56050684	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6876403	0.81[EUR][1000 genomes]
rs72795336	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72795339	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72795340	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72795344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795349	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795350	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795351	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795352	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795354	0.85[AMR][1000 genomes]
rs72795364	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72795366	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72795376	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72795379	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72795389	1.00[AFR][1000 genomes]
rs72797233	1.00[AFR][1000 genomes]
rs72797237	1.00[AFR][1000 genomes]
rs72797243	1.00[AFR][1000 genomes]
rs72797251	1.00[AFR][1000 genomes]
rs72797254	1.00[AFR][1000 genomes]
rs72797262	1.00[AFR][1000 genomes]
rs72797296	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023828	chr5:151522149-151956217	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1028516	chr5:151896509-151930647	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151902600-151907000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:151906000-151906200	Enhancers	Aorta	Aorta
3	chr5:151906000-151906400	Enhancers	Spleen	Spleen

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