Variant report

Variant	rs2850394
Chromosome Location	chr4:102958744-102958745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:102958722-102958968	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:102958729-102958881	A549	lung:	n/a	n/a
3	CEBPB	chr4:102958713-102958975	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000251309	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11097767	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11729100	0.85[EUR][1000 genomes]
rs1395306	0.86[EUR][1000 genomes]
rs17031982	0.84[CEU][hapmap];0.86[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs1872701	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1872702	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1906081	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2129292	0.83[EUR][1000 genomes]
rs2129294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510445	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631262	0.91[EUR][1000 genomes]
rs2658534	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2658535	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2850390	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2850392	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2850395	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2850396	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2850397	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133077	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3133078	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448604	0.99[ASN][1000 genomes]
rs4698987	0.84[CEU][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs6816285	0.82[EUR][1000 genomes]
rs7675363	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869164	chr4:102483189-103213842	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2757945	chr4:102662699-103008940	Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2759269	chr4:102662699-103008940	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1011180	chr4:102685236-102985945	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv537202	chr4:102685236-102985945	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv879682	chr4:102859835-103088491	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv461596	chr4:102935902-103008712	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv594955	chr4:102935902-103008712	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102948400-102965400	Strong transcription	Primary B cells from cord blood	blood
2	chr4:102951800-102979200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr4:102957600-102958800	Enhancers	HSMM	muscle
4	chr4:102957800-102959000	Enhancers	HSMMtube	muscle
5	chr4:102958400-102959000	Active TSS	Liver	Liver
6	chr4:102958400-102959000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr4:102958400-102983600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:102958600-102958800	Active TSS	Monocytes-CD14+_RO01746	blood
9	chr4:102958600-102959000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:102958600-102959000	Active TSS	GM12878-XiMat	blood

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