Variant report

Variant	rs35581370
Chromosome Location	chr4:120570278-120570279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10007021	0.81[ASN][1000 genomes]
rs10013319	0.81[ASN][1000 genomes]
rs10015250	0.81[ASN][1000 genomes]
rs10025536	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11730798	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11731568	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12646486	0.81[ASN][1000 genomes]
rs12648324	0.81[ASN][1000 genomes]
rs13103510	0.90[EUR][1000 genomes]
rs13106925	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13108160	0.81[ASN][1000 genomes]
rs13109926	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13118388	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13120581	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13132106	0.81[ASN][1000 genomes]
rs13136296	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13137511	0.92[EUR][1000 genomes]
rs13147817	0.92[EUR][1000 genomes]
rs17051362	0.81[ASN][1000 genomes]
rs17051363	0.84[ASN][1000 genomes]
rs17292047	0.88[EUR][1000 genomes]
rs17358524	0.90[EUR][1000 genomes]
rs17358860	0.81[EUR][1000 genomes]
rs2389868	0.92[EUR][1000 genomes]
rs2389870	0.81[EUR][1000 genomes]
rs2389893	0.81[ASN][1000 genomes]
rs2892870	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2953295	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34601943	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34676199	0.92[EUR][1000 genomes]
rs35850447	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35967840	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35999787	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3756155	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3775846	0.87[EUR][1000 genomes]
rs4146267	0.81[ASN][1000 genomes]
rs4833620	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4834782	0.89[EUR][1000 genomes]
rs4834788	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4834789	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4834790	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4834796	0.81[ASN][1000 genomes]
rs4834801	0.81[ASN][1000 genomes]
rs62319606	0.88[EUR][1000 genomes]
rs62319612	0.89[EUR][1000 genomes]
rs62319647	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62319657	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62319658	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62321168	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6817975	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7441168	0.81[ASN][1000 genomes]
rs7676589	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1802546	chr4:120558608-120675026	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35581370	LOC645513	Cis_1M	lymphoblastoid	RTeQTL
rs35581370	RP11-33B1.1	cis	Thyroid	GTEx
rs35581370	USP53	cis	Whole Blood	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120568200-120573600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:120568200-120573600	Weak transcription	NH-A	brain
3	chr4:120568400-120573600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:120568400-120577400	Weak transcription	Psoas Muscle	Psoas
5	chr4:120568600-120582200	Weak transcription	Fetal Brain Male	brain
6	chr4:120568800-120573200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:120568800-120573200	Weak transcription	NHLF	lung
8	chr4:120568800-120573600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:120569000-120573200	Weak transcription	Osteobl	bone
10	chr4:120569200-120573600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:120569800-120571800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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