Variant report

Variant	rs527769
Chromosome Location	chr1:215074472-215074473
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215071826..215073413-chr1:215073574..215076518,2	K562	blood:
2	chr1:215072041..215074591-chr1:215077399..215079540,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12750128	0.87[EUR][1000 genomes]
rs472961	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs476910	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs477485	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs478664	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs494808	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs506436	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs512597	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs520394	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526746	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554343	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs557765	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558728	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs558879	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs564291	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896652	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[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	nsv873167	chr1:214950361-215116947	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215071200-215074600	Weak transcription	HUVEC	blood vessel
2	chr1:215072200-215076800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:215072800-215077000	Enhancers	NHDF-Ad	bronchial
4	chr1:215072800-215077000	Enhancers	Osteobl	bone
5	chr1:215073200-215074600	Weak transcription	A549	lung
6	chr1:215073200-215075800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:215073400-215074800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:215073400-215075400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:215073400-215076800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:215073400-215077000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:215073600-215074800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:215073600-215076800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:215073600-215077000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:215073600-215077000	Enhancers	HMEC	breast
15	chr1:215073800-215074800	Weak transcription	Hela-S3	cervix
16	chr1:215073800-215074800	Weak transcription	HSMM	muscle
17	chr1:215073800-215074800	Weak transcription	NH-A	brain
18	chr1:215074000-215075000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:215074000-215077000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:215074000-215077000	Enhancers	NHEK	skin
21	chr1:215074400-215077000	Enhancers	NHLF	lung

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