Variant report

Variant	rs11988494
Chromosome Location	chr8:90289830-90289831
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10098624	0.88[ASN][1000 genomes]
rs11984959	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11986115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11987283	1.00[ASN][1000 genomes]
rs11989634	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11992722	1.00[ASN][1000 genomes]
rs11994190	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13281027	1.00[ASN][1000 genomes]
rs34269707	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56887736	1.00[ASN][1000 genomes]
rs57488028	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6994231	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7003820	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73295673	0.88[ASN][1000 genomes]
rs73295677	0.88[ASN][1000 genomes]
rs73295679	0.88[ASN][1000 genomes]
rs73295689	1.00[ASN][1000 genomes]
rs73295692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73295702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73297804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73297807	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73297813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73299833	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73299837	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73299847	1.00[ASN][1000 genomes]
rs73299850	1.00[ASN][1000 genomes]
rs73299852	1.00[ASN][1000 genomes]
rs73299855	1.00[ASN][1000 genomes]
rs7812395	1.00[ASN][1000 genomes]
rs7831000	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7835697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7846040	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1024956	chr8:90104423-90459539	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv539671	chr8:90104423-90459539	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1032886	chr8:90253748-90398240	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
6	nsv891178	chr8:90289326-90337010	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90281800-90295200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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