Variant report

Variant	rs1481052
Chromosome Location	chr8:39944312-39944313
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs13254619	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1481048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888729	1.00[ASN][1000 genomes]
rs16888732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888736	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28427344	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2981193	1.00[ASN][1000 genomes]
rs34487659	0.95[ASN][1000 genomes]
rs34852909	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4521741	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55742726	1.00[ASN][1000 genomes]
rs55784256	1.00[ASN][1000 genomes]
rs55977637	1.00[ASN][1000 genomes]
rs55999326	1.00[ASN][1000 genomes]
rs56302842	1.00[ASN][1000 genomes]
rs56347116	1.00[ASN][1000 genomes]
rs57503829	0.90[ASN][1000 genomes]
rs59027887	1.00[ASN][1000 genomes]
rs59248258	1.00[ASN][1000 genomes]
rs59885214	1.00[ASN][1000 genomes]
rs60772517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61048623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61513602	1.00[ASN][1000 genomes]
rs61682670	1.00[ASN][1000 genomes]
rs6474213	1.00[ASN][1000 genomes]
rs6474215	1.00[ASN][1000 genomes]
rs6474216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6474217	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983101	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983118	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987771	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000302	1.00[ASN][1000 genomes]
rs7000470	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007403	1.00[ASN][1000 genomes]
rs7014749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017503	1.00[ASN][1000 genomes]
rs7017791	1.00[ASN][1000 genomes]
rs71510122	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71510123	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73617874	1.00[ASN][1000 genomes]
rs73674750	0.95[ASN][1000 genomes]
rs7822668	1.00[ASN][1000 genomes]
rs7822780	1.00[ASN][1000 genomes]
rs7832286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834273	1.00[AMR][1000 genomes]
rs7836554	1.00[ASN][1000 genomes]
rs7837003	1.00[ASN][1000 genomes]
rs7837122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837262	0.95[ASN][1000 genomes]
rs7837573	1.00[ASN][1000 genomes]
rs7838116	1.00[ASN][1000 genomes]
rs7838519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839033	1.00[ASN][1000 genomes]
rs7841905	1.00[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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1034355	chr8:39942179-39961432	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39940000-39950000	Weak transcription	A549	lung
2	chr8:39940600-39945000	Weak transcription	Ovary	ovary
3	chr8:39941000-39945000	Enhancers	Fetal Lung	lung
4	chr8:39942800-39944600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:39943200-39944600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:39943400-39944400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:39943400-39944600	Enhancers	Rectal Smooth Muscle	rectum
8	chr8:39943600-39944600	Enhancers	Fetal Stomach	stomach
9	chr8:39944000-39945200	Enhancers	HepG2	liver
10	chr8:39944000-39950800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:39944200-39949800	Weak transcription	Colon Smooth Muscle	Colon

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