Variant report

Variant	rs4627822
Chromosome Location	chr4:90024739-90024740
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	chr4:90023640..90025754-chr4:90032265..90034270,2	K562	blood:
2	chr4:90023640..90028371-chr4:90029997..90034270,7	K562	blood:

Variant related genes	Relation type
ENSG00000138640	Chromatin interaction
ENSG00000271359	Chromatin interaction
ENSG00000180346	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10004795	0.93[ASN][1000 genomes]
rs10015415	0.81[CHB][hapmap]
rs10433949	0.89[CHD][hapmap];0.88[JPT][hapmap]
rs10470936	0.82[JPT][hapmap]
rs11097216	0.88[JPT][hapmap];0.82[AMR][1000 genomes]
rs11725938	0.85[ASN][1000 genomes]
rs11726708	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs12502070	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12505696	0.86[CHD][hapmap];0.88[JPT][hapmap]
rs12507131	0.88[JPT][hapmap]
rs12508524	0.86[CHD][hapmap];0.88[JPT][hapmap]
rs12509305	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1398942	0.86[CHD][hapmap];0.88[JPT][hapmap]
rs1533292	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1533293	0.88[JPT][hapmap]
rs1795739	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs4367140	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs59799062	0.92[ASN][1000 genomes]
rs60770708	0.84[ASN][1000 genomes]
rs62304448	0.94[ASN][1000 genomes]
rs67706608	0.94[ASN][1000 genomes]
rs6817766	0.89[CHD][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.81[AMR][1000 genomes]
rs6825998	0.94[ASN][1000 genomes]
rs6828137	0.86[CHD][hapmap]
rs6838424	0.82[JPT][hapmap]
rs6849143	0.87[CHD][hapmap]
rs6849540	0.94[ASN][1000 genomes]
rs6852928	0.87[CHD][hapmap]
rs72877639	0.94[ASN][1000 genomes]
rs9994655	0.88[JPT][hapmap];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4627822	FAM190A	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90017200-90031600	Weak transcription	Right Atrium	heart
2	chr4:90021000-90029800	Weak transcription	Primary T cells from cord blood	blood
3	chr4:90023200-90026400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:90024200-90031800	Weak transcription	Aorta	Aorta

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