Variant report

Variant	rs335558
Chromosome Location	chr1:214894607-214894608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10494982	1.00[JPT][hapmap]
rs11120364	1.00[JPT][hapmap]
rs11120394	0.83[ASN][1000 genomes]
rs11487873	1.00[JPT][hapmap]
rs12057597	0.83[ASN][1000 genomes]
rs1397625	0.88[EUR][1000 genomes]
rs1597504	0.83[ASN][1000 genomes]
rs1597505	0.83[ASN][1000 genomes]
rs1779662	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1779663	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2290199	1.00[JPT][hapmap]
rs335529	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs335537	1.00[ASN][1000 genomes]
rs335556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335562	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs335564	0.88[EUR][1000 genomes]
rs335570	0.88[EUR][1000 genomes]
rs335573	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs335574	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs335575	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs335576	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs335577	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs374482	0.83[AFR][1000 genomes]
rs3748693	1.00[JPT][hapmap]
rs377272	0.88[EUR][1000 genomes]
rs420942	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs430311	0.83[AFR][1000 genomes]
rs449916	0.83[AFR][1000 genomes]
rs6662756	0.88[EUR][1000 genomes]
rs921366	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002937	chr1:214793813-214994142	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1013284	chr1:214799847-214951184	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214893800-214894800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:214894000-214894800	Enhancers	Osteobl	bone

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