Variant report

Variant	rs771478
Chromosome Location	chr1:93848800-93848801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93810264..93812351-chr1:93846551..93849161,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DR1-3	chr1:93847979-93851186	NONHSAT004532

Variant related genes	Relation type
ENSG00000117505	Chromatin interaction
ENSG00000223745	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10443193	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1081522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874783	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10874784	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11164885	0.80[ASN][1000 genomes]
rs11164897	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11164908	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11164921	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12030843	0.80[ASN][1000 genomes]
rs12031709	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12031765	0.80[ASN][1000 genomes]
rs12044557	0.80[ASN][1000 genomes]
rs12133907	0.81[ASN][1000 genomes]
rs12405487	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12563120	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12566752	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1365297	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1426318	0.81[ASN][1000 genomes]
rs2114271	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2114272	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2162276	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2391251	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3087457	0.80[ASN][1000 genomes]
rs35628716	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35910103	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35915989	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3904665	0.80[ASN][1000 genomes]
rs4847241	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4847242	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4847419	0.81[ASN][1000 genomes]
rs4847420	0.81[ASN][1000 genomes]
rs4847426	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58354545	0.80[ASN][1000 genomes]
rs59417472	0.81[ASN][1000 genomes]
rs61266405	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61799500	0.80[ASN][1000 genomes]
rs61799516	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6541349	0.81[EUR][1000 genomes]
rs6676902	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6684908	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6691545	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs698927	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72959220	0.80[ASN][1000 genomes]
rs771454	0.84[ASN][1000 genomes]
rs771458	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs771461	0.83[ASN][1000 genomes]
rs771462	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs771465	0.84[ASN][1000 genomes]
rs771470	0.84[ASN][1000 genomes]
rs771476	0.87[ASN][1000 genomes]
rs771479	0.87[ASN][1000 genomes]
rs771481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs771482	0.87[ASN][1000 genomes]
rs810027	0.87[ASN][1000 genomes]
rs812214	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][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	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93835800-93850400	Weak transcription	Dnd41	blood
2	chr1:93840200-93851400	Weak transcription	Left Ventricle	heart
3	chr1:93840600-93852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:93847200-93852000	Weak transcription	Aorta	Aorta
5	chr1:93848200-93850400	Enhancers	Fetal Lung	lung
6	chr1:93848400-93850000	Weak transcription	HSMMtube	muscle

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