Variant report

Variant	rs2128386
Chromosome Location	chr8:130784292-130784293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130777382..130781561-chr8:130783248..130785671,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10094445	0.84[ASN][1000 genomes]
rs10096604	0.86[ASN][1000 genomes]
rs10097810	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10098559	0.86[ASN][1000 genomes]
rs10956495	0.86[ASN][1000 genomes]
rs1600931	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1905168	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1967018	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1979475	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1979476	0.84[ASN][1000 genomes]
rs1988911	0.84[ASN][1000 genomes]
rs2894495	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3912318	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4103049	0.86[ASN][1000 genomes]
rs4260864	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4383938	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4412339	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4500051	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733741	0.86[ASN][1000 genomes]
rs6470781	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470782	0.83[ASN][1000 genomes]
rs6470783	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983184	0.84[ASN][1000 genomes]
rs73406845	0.82[ASN][1000 genomes]
rs7821985	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7823788	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7834217	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7834660	0.84[ASN][1000 genomes]
rs9656980	0.83[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	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr8:130780000-130787200	Weak transcription	NHEK	skin
2	chr8:130780200-130787200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:130780400-130790200	Weak transcription	Spleen	Spleen
4	chr8:130780400-130797000	Weak transcription	Esophagus	oesophagus
5	chr8:130781800-130789000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:130784200-130785400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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