Variant report

Variant	rs6449475
Chromosome Location	chr5:59834261-59834262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10036678	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10044835	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10056275	0.98[AFR][1000 genomes]
rs10065640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074908	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10075757	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078847	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1379112	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16878206	0.92[ASN][1000 genomes]
rs16878207	0.92[ASN][1000 genomes]
rs28531078	0.99[AFR][1000 genomes]
rs3857235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4081739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4133470	1.00[JPT][hapmap]
rs6891919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898521	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093136	0.82[ASN][1000 genomes]
rs7707672	0.89[AFR][1000 genomes]
rs7712091	0.92[ASN][1000 genomes]
rs7712117	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723306	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7724442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7727343	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7729652	0.82[ASN][1000 genomes]
rs7729781	0.82[ASN][1000 genomes]
rs9291692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv881711	chr5:59724947-59890278	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv598297	chr5:59734004-59862453	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59828000-59834800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:59828000-59837000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:59829800-59834600	Weak transcription	Brain Substantia Nigra	brain
4	chr5:59830000-59835200	Weak transcription	HepG2	liver
5	chr5:59830400-59835400	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:59831600-59835000	Weak transcription	GM12878-XiMat	blood
7	chr5:59833400-59838200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:59833400-59838800	Enhancers	Primary T cells from cord blood	blood
9	chr5:59833800-59834600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:59833800-59835400	Enhancers	Primary B cells from cord blood	blood
11	chr5:59834000-59839200	Enhancers	Primary B cells from peripheral blood	blood
12	chr5:59834200-59838200	Enhancers	Brain Angular Gyrus	brain

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