Variant report

Variant	rs4650390
Chromosome Location	chr1:79625199-79625200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10782680	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10782682	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10874017	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874018	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874022	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10874023	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11162638	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11162642	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11162650	0.96[AFR][1000 genomes]
rs12134421	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1332816	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1352271	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1487549	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1487550	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1487551	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1487552	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs182761	0.92[AFR][1000 genomes]
rs2029252	0.82[AFR][1000 genomes]
rs228549	0.86[AFR][1000 genomes]
rs228550	0.86[AFR][1000 genomes]
rs228551	0.87[AFR][1000 genomes]
rs401462	0.96[AFR][1000 genomes]
rs4650388	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4650389	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4650391	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4650643	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5008836	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6424637	0.83[AFR][1000 genomes]
rs6424638	0.86[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6424639	0.80[ASW][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs6679696	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs721647	0.83[AFR][1000 genomes]
rs7525060	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7526520	0.83[AFR][1000 genomes]
rs7537014	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7554629	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs958745	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830326	chr1:79573379-79735667	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv871182	chr1:79614989-79822735	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79621800-79626800	Weak transcription	Fetal Heart	heart

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