Variant report

Variant	rs34278750
Chromosome Location	chr4:120571136-120571137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10009566	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10012252	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10022185	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098534	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12499377	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12504773	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12505735	0.81[EUR][1000 genomes]
rs12512646	0.84[EUR][1000 genomes]
rs12642411	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13122709	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13136462	0.82[EUR][1000 genomes]
rs17051352	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17051356	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2389880	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2389882	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2389885	0.82[EUR][1000 genomes]
rs2389886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28394116	0.81[EUR][1000 genomes]
rs28535956	0.81[EUR][1000 genomes]
rs28578366	0.81[EUR][1000 genomes]
rs28787668	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28850368	0.88[ASN][1000 genomes]
rs34835603	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3756156	0.81[EUR][1000 genomes]
rs3806808	0.84[ASN][1000 genomes]
rs4504231	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4833624	0.84[EUR][1000 genomes]
rs7664440	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671096	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7676296	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7680914	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7695292	0.88[EUR][1000 genomes];0.91[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs34278750	LOC645513	Cis_1M	lymphoblastoid	RTeQTL
rs34278750	RP11-33B1.1	cis	lung	GTEx
rs34278750	RP11-33B1.1	cis	Heart Left Ventricle	GTEx
rs34278750	RP11-33B1.1	cis	Esophagus Mucosa	GTEx
rs34278750	RP11-33B1.4	cis	Whole Blood	GTEx
rs34278750	RP11-33B1.1	cis	Whole Blood	GTEx
rs34278750	FLJ14186///LOC284701///LOC441124///LOC728624	Cis_chr	lymphoblastoid	RTeQTL

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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