Variant report

Variant	rs4142351
Chromosome Location	chr1:221263260-221263261
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10863578	0.82[ASN][1000 genomes]
rs11118641	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11118648	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118652	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118653	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12121213	0.83[ASN][1000 genomes]
rs12123182	0.82[ASN][1000 genomes]
rs12127195	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12140672	0.81[ASN][1000 genomes]
rs1596173	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17009346	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17009398	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17009529	0.81[ASN][1000 genomes]
rs17009536	0.83[ASN][1000 genomes]
rs1935157	0.84[ASN][1000 genomes]
rs2039956	0.81[ASN][1000 genomes]
rs3920857	0.83[ASN][1000 genomes]
rs4142348	0.83[ASN][1000 genomes]
rs4420085	0.81[ASN][1000 genomes]
rs4427411	0.90[ASN][1000 genomes]
rs4625285	0.82[ASN][1000 genomes]
rs4846684	0.81[ASN][1000 genomes]
rs4846685	0.81[ASN][1000 genomes]
rs55966903	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57489853	0.81[ASN][1000 genomes]
rs58513421	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59098418	0.81[ASN][1000 genomes]
rs61819242	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670400	0.82[ASN][1000 genomes]
rs6687526	0.81[ASN][1000 genomes]
rs6693821	0.85[ASN][1000 genomes]
rs6698945	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67635817	0.81[ASN][1000 genomes]
rs715300	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72742507	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7354867	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511784	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7512831	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7517729	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522861	0.83[ASN][1000 genomes]
rs7523927	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7526270	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544056	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7554672	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9431425	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221259800-221270000	Weak transcription	Adipose Nuclei	Adipose
2	chr1:221260800-221264000	Enhancers	NHLF	lung
3	chr1:221261200-221263400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:221261200-221263800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:221261200-221263800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:221261200-221264000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:221261200-221264000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:221261200-221264000	Enhancers	NHDF-Ad	bronchial
9	chr1:221262200-221264000	Enhancers	HSMM	muscle
10	chr1:221262400-221263400	Enhancers	HUVEC	blood vessel
11	chr1:221262400-221263800	Enhancers	Osteobl	bone
12	chr1:221262600-221263400	Enhancers	NH-A	brain
13	chr1:221262600-221263800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:221262600-221264000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:221262800-221263400	Flanking Active TSS	A549	lung
16	chr1:221262800-221263600	Weak transcription	Placenta	Placenta
17	chr1:221262800-221267400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:221263000-221263400	Weak transcription	HSMMtube	muscle

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