Variant report

Variant	rs4975217
Chromosome Location	chr4:130267046-130267047
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10002933	0.90[ASN][1000 genomes]
rs10018742	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11939768	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11939883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28459462	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4130024	0.91[ASN][1000 genomes]
rs4246722	0.91[ASN][1000 genomes]
rs4246723	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4246725	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4324562	0.84[ASN][1000 genomes]
rs4328927	0.91[ASN][1000 genomes]
rs4336241	0.93[ASN][1000 genomes]
rs4348109	0.84[ASN][1000 genomes]
rs4351033	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4356920	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4364276	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4522874	0.91[ASN][1000 genomes]
rs4525996	0.83[ASN][1000 genomes]
rs4604071	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4608824	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4975210	0.91[ASN][1000 genomes]
rs4975211	0.91[ASN][1000 genomes]
rs4975212	0.81[ASN][1000 genomes]
rs4975213	0.91[ASN][1000 genomes]
rs5019103	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5019104	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62317265	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6534723	0.91[ASN][1000 genomes]
rs6534724	0.91[ASN][1000 genomes]
rs6534725	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6534727	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6814634	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6818545	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6819060	0.90[EUR][1000 genomes]
rs6820523	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6820852	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6821513	0.84[ASN][1000 genomes]
rs6842148	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7656960	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9994470	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4975217	C4orf33	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130258400-130267600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr4:130264000-130268000	Weak transcription	Fetal Kidney	kidney
3	chr4:130264200-130268000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr4:130265200-130267400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:130265200-130268200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr4:130265400-130267400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:130265600-130267200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:130265600-130267200	Weak transcription	Fetal Intestine Large	intestine
9	chr4:130265600-130268200	Enhancers	Fetal Brain Male	brain
10	chr4:130266000-130272000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:130266800-130267200	Enhancers	Brain Germinal Matrix	brain
12	chr4:130267000-130271200	Weak transcription	Fetal Lung	lung

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