Variant report

Variant	rs430875
Chromosome Location	chr1:76654321-76654322
allele	C/T
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:38)

rs_ID	r²[population]
rs12139215	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140759	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414403	0.87[EUR][1000 genomes]
rs1414406	0.87[EUR][1000 genomes]
rs1970226	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2631778	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011987	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011989	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011997	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs366497	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs370016	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs370808	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs370908	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs371955	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs387214	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs393933	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs398826	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs402394	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs404652	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs409312	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs409979	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs411398	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs413350	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs425110	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs427172	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs429265	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs431752	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434633	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs442486	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs448003	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs450133	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs450636	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs450708	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs475686	0.88[EUR][1000 genomes]
rs532583	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs544010	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs603022	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638593	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76646600-76658000	Weak transcription	Fetal Stomach	stomach
2	chr1:76647000-76665600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76652000-76654600	Weak transcription	Aorta	Aorta
4	chr1:76652400-76654800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:76653000-76654600	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:76653600-76654600	Weak transcription	Brain Angular Gyrus	brain
7	chr1:76653600-76654600	Weak transcription	Brain Anterior Caudate	brain

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