Variant report

Variant	rs4499695
Chromosome Location	chr4:21003535-21003536
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	chr4:21002667..21005415-chr4:21005443..21008347,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10516368	1.00[JPT][hapmap]
rs10516372	1.00[JPT][hapmap]
rs10516373	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs10938820	1.00[JPT][hapmap]
rs11735132	0.83[AMR][1000 genomes]
rs11931507	1.00[JPT][hapmap]
rs11946257	1.00[JPT][hapmap]
rs12639782	1.00[JPT][hapmap]
rs12640610	0.88[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12642219	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs12643593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12645600	1.00[JPT][hapmap]
rs12647136	1.00[JPT][hapmap]
rs12647761	1.00[JPT][hapmap]
rs12648562	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs12649754	1.00[JPT][hapmap]
rs12650955	1.00[JPT][hapmap]
rs13143622	1.00[JPT][hapmap]
rs1434954	1.00[JPT][hapmap]
rs1434955	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs1491371	1.00[JPT][hapmap]
rs16870186	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs16870225	1.00[JPT][hapmap]
rs16870226	1.00[JPT][hapmap]
rs16870239	1.00[JPT][hapmap]
rs16870246	1.00[JPT][hapmap]
rs1988092	1.00[JPT][hapmap]
rs41389548	1.00[JPT][hapmap]
rs4235287	1.00[JPT][hapmap]
rs56271214	0.83[AMR][1000 genomes]
rs6834010	1.00[JPT][hapmap]
rs6834492	1.00[JPT][hapmap]
rs6836818	1.00[JPT][hapmap]
rs6856054	1.00[JPT][hapmap]
rs7340882	1.00[JPT][hapmap]
rs7660907	1.00[JPT][hapmap]
rs7675477	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7676308	1.00[JPT][hapmap]
rs7676475	1.00[JPT][hapmap]
rs7678620	1.00[JPT][hapmap]
rs920019	1.00[CHB][hapmap]
rs971472	0.86[TSI][hapmap]

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	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv829878	chr4:20966047-21138626	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4499695	FUBP3	trans	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20988800-21004600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:21002800-21004000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:21003000-21004200	Enhancers	Primary hematopoietic stem cells	blood
4	chr4:21003000-21005000	Enhancers	Fetal Brain Male	brain
5	chr4:21003200-21003600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:21003200-21003600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr4:21003200-21004400	Enhancers	Fetal Brain Female	brain
8	chr4:21003200-21005000	Enhancers	HUES6 Cell Line	embryonic stem cell

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