Variant report

Variant	rs4351033
Chromosome Location	chr4:130248604-130248605
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:130243320..130247146-chr4:130247624..130250769,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10002933	0.83[ASN][1000 genomes]
rs10018742	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11939768	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11939883	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28459462	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4130024	0.85[ASN][1000 genomes]
rs4246722	0.85[ASN][1000 genomes]
rs4246723	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4246725	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4324562	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4328927	0.85[ASN][1000 genomes]
rs4336241	0.86[ASN][1000 genomes]
rs4348109	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4356920	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4364276	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4522874	0.85[ASN][1000 genomes]
rs4525996	0.97[ASN][1000 genomes]
rs4604071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4608824	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975210	0.85[ASN][1000 genomes]
rs4975211	0.85[ASN][1000 genomes]
rs4975213	0.85[ASN][1000 genomes]
rs4975217	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5019103	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5019104	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62317265	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6534723	0.85[ASN][1000 genomes]
rs6534724	0.85[ASN][1000 genomes]
rs6534725	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534727	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6814634	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818545	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6819060	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6820523	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6820852	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6821513	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6842148	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7656960	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994470	0.92[AFR][1000 genomes];0.98[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	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv830058	chr4:130136025-130315471	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv879932	chr4:130167642-130264517	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4351033	C4orf33	cis	cerebellum	SCAN
rs4351033	LOC132321	cis	multi-tissue	Pritchard

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130246000-130251000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:130247400-130248800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr4:130247800-130248800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:130247800-130248800	Enhancers	Fetal Muscle Leg	muscle
5	chr4:130248000-130248800	Enhancers	Adipose Nuclei	Adipose
6	chr4:130248000-130249000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr4:130248000-130249000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr4:130248200-130248800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr4:130248400-130249600	Enhancers	Primary hematopoietic stem cells	blood
10	chr4:130248600-130249800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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