Variant report

Variant	rs4768136
Chromosome Location	chr12:47145796-47145797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11183581	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183589	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11183608	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11615446	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12303637	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12307895	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311710	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313822	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12316767	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12318216	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12320235	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12320632	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12322157	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12582305	0.82[JPT][hapmap]
rs1468970	0.83[EUR][1000 genomes]
rs1468971	0.85[EUR][1000 genomes]
rs1468972	0.85[EUR][1000 genomes]
rs180403	0.87[CEU][hapmap]
rs180405	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs180407	0.84[EUR][1000 genomes]
rs180408	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs180410	0.83[CEU][hapmap]
rs180415	0.83[CEU][hapmap]
rs180417	0.83[CEU][hapmap]
rs180420	0.82[CEU][hapmap]
rs180421	0.87[CEU][hapmap]
rs180426	0.93[CEU][hapmap]
rs180430	0.87[CEU][hapmap]
rs2080689	0.85[EUR][1000 genomes]
rs2111773	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2287471	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2408621	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2408623	0.85[EUR][1000 genomes]
rs2430916	0.80[EUR][1000 genomes]
rs2430920	0.85[EUR][1000 genomes]
rs2430921	0.85[EUR][1000 genomes]
rs2465582	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs2465584	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs2465595	0.85[EUR][1000 genomes]
rs2465614	0.85[EUR][1000 genomes]
rs2543334	0.85[EUR][1000 genomes]
rs2543335	0.85[EUR][1000 genomes]
rs2715775	0.85[EUR][1000 genomes]
rs2715783	0.85[EUR][1000 genomes]
rs4768751	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56819961	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7316285	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47145200-47146200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:47145200-47146200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr12:47145200-47146400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:47145200-47146800	Enhancers	HepG2	liver
5	chr12:47145600-47146000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:47145600-47146200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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