Variant report

Variant	rs2269119
Chromosome Location	chr1:57336775-57336776
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57335538..57338188-chr1:57354917..57357199,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489623	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11206932	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs12401558	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12406202	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407519	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1329449	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1885002	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1887977	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2145404	0.81[ASN][1000 genomes]
rs2269114	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2269115	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269118	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2269121	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300954	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2300955	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34748213	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35562962	0.94[ASN][1000 genomes]
rs3768215	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs55894323	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57210737	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58983677	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6681119	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683663	0.81[CEU][hapmap]
rs6694643	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697228	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670317	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670319	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670327	0.94[ASN][1000 genomes]
rs857040	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv508215	chr1:57319460-57351150	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57324400-57339000	Weak transcription	HepG2	liver
2	chr1:57332400-57343000	Strong transcription	Liver	Liver
3	chr1:57333000-57338200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:57333400-57338400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:57333600-57338400	Weak transcription	NHEK	skin
6	chr1:57333800-57338200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:57334400-57338200	Weak transcription	Osteobl	bone
8	chr1:57334600-57338200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:57334600-57343400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:57334800-57338600	Weak transcription	NHLF	lung
11	chr1:57336000-57337800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:57336000-57338600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:57336200-57337600	Weak transcription	NHDF-Ad	bronchial
14	chr1:57336200-57338000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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