Variant report

Variant	rs7983516
Chromosome Location	chr13:80137116-80137117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11549502	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11619563	0.91[AMR][1000 genomes]
rs11838769	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12146935	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17431002	0.81[EUR][1000 genomes]
rs4884132	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4885635	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4885639	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4885641	0.81[EUR][1000 genomes]
rs73234683	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73234690	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235960	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7399942	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7983288	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7990729	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7991663	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8000301	0.82[AMR][1000 genomes]
rs9530926	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530927	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530928	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9530932	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9530933	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9530935	0.84[EUR][1000 genomes]
rs9530936	0.81[EUR][1000 genomes]
rs9545115	0.91[AMR][1000 genomes]
rs9545119	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9545126	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545127	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9545129	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545130	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9545132	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545140	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9545141	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9545143	0.81[EUR][1000 genomes]
rs9545144	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs958316	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs983927	0.88[AFR][1000 genomes];0.91[AMR][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	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1041994	chr13:80123596-80247708	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80134000-80138800	Weak transcription	Left Ventricle	heart
2	chr13:80135400-80137400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:80135600-80147200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:80137000-80138000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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