Variant report

Variant	rs6996588
Chromosome Location	chr8:120501660-120501661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10086941	0.82[EUR][1000 genomes]
rs10094917	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10107512	0.82[EUR][1000 genomes]
rs10112143	0.82[EUR][1000 genomes]
rs10505364	0.85[EUR][1000 genomes]
rs11775962	0.89[EUR][1000 genomes]
rs11784751	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs11786546	0.85[EUR][1000 genomes]
rs1348724	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1348725	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1599475	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17190725	0.82[EUR][1000 genomes]
rs17793468	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17793498	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17793803	0.85[EUR][1000 genomes]
rs1838746	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1992722	0.82[EUR][1000 genomes]
rs1992723	0.81[EUR][1000 genomes]
rs1992724	0.81[EUR][1000 genomes]
rs2017336	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2326260	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2326261	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2326262	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2326263	0.88[EUR][1000 genomes]
rs28575764	0.82[EUR][1000 genomes]
rs28612171	0.82[EUR][1000 genomes]
rs28673148	0.81[EUR][1000 genomes]
rs2875886	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2875887	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4292719	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4549811	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4870796	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870797	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870798	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871265	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871266	0.88[EUR][1000 genomes]
rs4871279	0.84[EUR][1000 genomes]
rs6469825	0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs6469828	0.85[EUR][1000 genomes]
rs6469829	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6980719	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs6982983	0.81[EUR][1000 genomes]
rs6982993	0.81[EUR][1000 genomes]
rs6983616	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6991181	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6996111	0.98[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7000655	0.85[EUR][1000 genomes]
rs7000665	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7003326	0.81[EUR][1000 genomes]
rs7003949	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7009369	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7010158	0.85[EUR][1000 genomes]
rs7013085	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7013099	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7013103	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7013650	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7013726	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7013970	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7014095	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7014564	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7016637	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72686368	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72686373	0.82[EUR][1000 genomes]
rs73713855	0.82[EUR][1000 genomes]
rs7813722	0.82[EUR][1000 genomes]
rs7825776	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs7827684	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7830059	0.82[EUR][1000 genomes]
rs7830192	0.82[EUR][1000 genomes]
rs7841822	0.91[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs7845239	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs7845412	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs7845494	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs7845613	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs7845757	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7846200	0.87[EUR][1000 genomes]
rs7846334	0.87[EUR][1000 genomes]
rs9643134	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1026655	chr8:120282929-120522329	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120499600-120502600	Weak transcription	Fetal Brain Male	brain
2	chr8:120501400-120502600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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